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Alport Syndrome hi i hria em? Kan sawi dawn nia!

Alport Syndrome hi i hria em? Kan sawi dawn nia!

I zun ah thisen tlem a awm tih i hmu ngai em? A nih loh leh, a chang chuan i hriatna a hniam deuh emaw, i mit a danglam deuh emaw ang maiin i inhria em? Hengte hi a chang chuan kan nitin nunah kan ngaih pawimawh vak loh thil a ni. Mahse, a châng chuan heng chhinchhiahna tenau tak takte hnung lamah hian ngaihven tûr engemaw zât ngai dinhmun a awm thei a, chu chu Alport Syndrome . Chuvangin vawiin hian he thu hi i hriatthiam theih tur awlsam takin kan sawi dawn a ni.

Alport Syndrome hi eng nge ni?

A awlsam zawngin sawi ila, Alport syndrome hi i kal (kidney)-in Type IV collagen proteins a siam chhuah dan pangngaia a siam chhuah theih lohna genetic condition a ni.

Ngaihtuah teh, he ``Type IV collagen'' hi collagen chain pathum (alpha chain) hrui ang maia inzawm khawm atanga siam a ni. Heng chain te hi alpha 3, alpha 4, leh alpha 5 an ti a, tunah chuan i taksain heng chain zinga pakhat mah a siam chhuah loh chuan a dang pahnih chu an inzawm khawm thei tawh lo. Chutih lai chuan Alport syndrome symptom na ber berte chu a lo lang ta a ni.

A châng chuan, heng chain zawng zawng hi i taksaah a lo awm vek a, mahse pakhat chu a lo insiam ṭhat loh chuan, a châng chuan chain chu a inzawm khawm thei lo va, a nih loh leh inzawm khawm pawh ni se, a thawk ṭha lo. Hetiang hunah hian symptoms te hi a tlahniam deuh thei a ni.

He protein hi ``Type IV collagen'' an tih hi i kal chhunga filtering membrane, ``glomerular basement membrane emaw GBM'' te tan a pawimawh hle. He ``(GBM)'' hian i thisen a filter a, taksain a mamawh loh toxin leh thil dang a thliar hrang a, zun siamna kawngah a pui bawk. Tin, thisen chhunga thisen cell leh protein ang chi thil te chu zun chhunga lut lovin thisenah a awm reng theih nan a pui bawk.

Tunah chuan he `(GBM)` hian hna a thawk tha lo a nih chuan thisen emaw protein emaw i zunah a leak thei a ni. Hun a kal zel a, i kal (kidney) hian zun a filter theihna pawh a tlahniam bawk. Hei hian kal (kidney failure) a tipung a ni.

Mahse hei hian kal (kidney) chauh a nghawng lo. He ``Type IV collagen'' hi i beng leh mit ah pawh a awm bawk. Chuvangin, kal lama harsatna bakah hian Alport syndrome vei chuan mit leh hriatna lama harsatna a nei thei bawk.

Engtin nge hei hi kan rochun ang?

Alport syndrome hi genetic type pathum a awm a. Eng nge an nih i han thlir teh ang.

X-linked Alport natna (XLAS) natna hi a awm lo.

Hei hi i X chromosome nen a inzawm tlat a ni. X chromosome hi i sex chromosome pahnih (X leh Y) zinga pakhat a ni. Alpha 5 chain `(COL4A5)` siamtu gene a awm a ni.

Tunah chuan en teh, mipa hian X chromosome pakhat leh Y chromosome pakhat a nei a. Hmeichhia chuan X chromosome pahnih a nei a. Mipa hian X chromosome chhia pakhat chauh an neih avangin symptom na tak tak an nei tam zawk. Hmeichhia hian X chromosome pakhat chhia leh X chromosome hrisel pakhat an neih avangin an natna lan chhuah dan hi a na zawk tlangpui.

Mipa pakhat chuan a Y chromosome chu a fapate hnenah a pe a. Chuvangin an fapate hnenah `(XLAS)` an pass thei lo. Mahse, mipa pakhat chuan a X chromosome chu a fanute zawng zawng hnenah a pass vek a ni. Chuvangin a fanute zawng zawng hian Alport syndrome an vei thei vek a ni.

Hmeichhia chuan a X chromosome pahnih zinga pakhat chu a fa hnenah a pe chhuak a, naupang chu mipa emaw hmeichhia emaw pawh nise. Chuvangin, naupang tu hnenah pawh `(XLAS)` a pek chhuah theihna chance 50% a nei a ni.

He `(XLAS)` hi Alport syndrome chi khat a ni ber. Alport syndrome vei zawng zawng zinga 60% leh 80% vel chu he chi hi an ni.

A rilru a buai em em a, a rilru a hah em em bawk a. Autosomal recessive Alport syndrome (ARAS) .

"Autosomal" tih hian autosomal gene pahnih 23 a kawk a ni. "Autosomal recessive" tih hian inheritance pattern a kawk a ni. Nu leh pa pakhatin autosomal recessive trait a neih chuan symptoms an nei lovang. An fate hnena a thlen theih nan chuan nu leh pa pahnih hian chu mizia chu an keng tel tur a ni. Mahse, symptom an neih loh avangin an nei tih pawh an hre lo.

Alport syndrome-ah chuan alpha 3 (COL4A3) leh alpha 4 (COL4A4) protein encode tu gene te chu chromosome 2-ah an awm a, "Recessive" tih awmzia chu natna lo awm tur chuan gene pair pakhata gene pahniha mutations a ngai tihna a ni.

Chuvangin, `(ARAS)`-ah hian chromosome 2-a alpha 3 emaw alpha 4 emaw protein encode tu gene-ah mutation a awm a, `(ARAS)` hi mipa leh hmeichhiaah a innghat lo va, chuvangin inheritance leh symptoms nasat dan chu mi zawng zawng tan a inang vek a ni.

`(ARAS)` i neih chuan i fate hian heng gene dik lo zinga pakhat hi an pass theihna chance 50% an nei a ni. Hei hian Alport syndrome a thlen lo tlangpui. Mahse, i fate hnenah gene dik lo pahnih hi i pass theihna chance 25% a awm. Hetiang a nih chuan i fa hian `(ARAS)` a nei ang.

(ARAS) hi Alport syndrome vei zinga 15% vel a ni.

A rilru a buai em em a, a rilru a hah em em bawk a. Autosomal dominant Alport syndrome (ADAS) .

"Dominant" tih awmzia chu natna pakhat chu gene pahnih pakhata gene pakhat chauh a mutation vang a ni thei tihna a ni. ADAS-ah chuan chromosome 2-a protein COL4A3 emaw COL4A4 emaw encode tu gene pakhatah mutation a awm a.

ADAS hi mipa leh hmeichhiaah a innghat lo va, chuvangin heritability leh symptoms nasat dan hi mi zawng zawng tan a inang vek a ni.

ADAS i neih chuan i fate hian he gene chhia hi an pass a, ADAS an neih theihna chance 50% a awm.

(ADAS) hi Alport syndrome vei zinga 25% leh 35% inkar a ni.

Hei hian tute nge nghawng a neih? Engtiang chiahin nge a hluar?

Alport syndrome hian tu pawh a nghawng thei. Inherited condition a ni a, chu chu nu leh pa pakhat emaw, pahnih emaw chuan an fa hnenah an pe chhuak tihna a ni. Mahse, 15% vel chu nu leh pa pahnihin mutated gene an neih loh pawhin a lo awm thei a ni.

Doctor-te chuan Alport syndrome hi thil awm lo tak niin an ngai.Zirchiangtute chuan United States-ah hian mi 200,000 aia tlem loin an nei niin an sawi. Khawvel pumah nau piang nung 50,000 zinga pakhat vel a ni. Mahse, zirchiangtute chuan he thil hi an zirchian zel avangin symptom nei tlem zawk mi an hmuchhuak ta a ni. Chuvangin tuna kan hriat aiin Alport syndrome hi a tam zawk mai thei.

Engtin nge Alport syndrome hian kidney failure a thlen?

Alport syndrome i neih chuan a hmaa ka sawi tawh glomerular basement membrane te hi a filter tha lo. Chuvangin thisen leh protein te chu zun chhungah a leak lut thin. Chu mai pawh ni lovin, chu membrane sir lehlama cell te chuan support dik tak an hmu lo. Tichuan chu cell te chu an thinrim a , an inflamed ta a ni . Heng cell podocyte an tih te hian GBM hi an siam thin. A chhehvel cell te chu an inflamed chuan heng podocytes te hian GBM ah hian type IV collagen tam zawk dah an tum thin. Chutiang a nih chuan GBM chu a thick a, a disorganized ta a ni. Hei vang hian protein chu zun (proteinuria) ah a leak lut thin.

Hun a kal zel a, zun chhunga protein tam zawk a kal chuan GBM chu a thim a, scar tissue (fibrosis) a lo awm thei bawk. Chuvang chuan i kal (kidney) te chuan i thisen tihfai theihna an hloh tan ta a ni. Hei hi chronic kidney disease (CKD) an ti a. Scar tissue tam zawk a lo pun zel chuan kidney function a chhe zual a, a tawpah chuan kidney hian hna a thawk tawh lo (kidney failure).

Alport syndrome natna lan chhuah dan ber berte chu engte nge ni?

I neih chi hrang hrang a zirin symptoms a inang lo thei. A lan chhuah dan ber chu:

  • Zun chhunga thisen i hmuh theih loh (microscopic hematuria).
  • Zun chhunga protein awm (proteinuria).
  • Chronic kidney disease (CKD) emaw kal tha lo emaw.
  • Hriatna hloh.
  • Mit lama harsatna nei.

Alport syndrome chhinchhiahna hmasa ber chu microscopic hematuria a ni. Chumi awmzia chu i GBM chhia chuan i zun chhungah thisen sen (red blood cells) a luang lut tihna a ni. Hei hi mitin hmuh theih a ni lova, microscope hmanga hmuh theih chauh a ni. XLAS vei mipa leh ARAS vei tu pawhin an pian tirh atangin microscopic hematuria an nei thei. XLAS vei hmeichhe tam tak chuan hun kal zelah microscopic hematuria an nei thin. ADAS vei zawng zawng hian microscopic hematuria an nei vek lo.

Chronic kidney disease (CKD) hi kal hnathawh a tlahniam tan chuan a lo awm thin. Mi tam tak chuan an kal (kidney) chu operation theih loh a nih hma chuan CKD symptoms an nei lo.

Kidney failure chhinchhiahna: 1.1.

  • Swelling (edema), a bik takin kut emaw ke ruh vel emaw.
  • Chauhna nasa tak a awm.
  • Nausea leh luak chhuak.
  • Muscle a ti na hle.

XLAS leh ARAS nei mipaah ​​hian hriatna hloh hi a tam zawk. Mahse Alport syndrome nei apiangah a thleng thei. Hriatna hloh hi a thleng zauh zauh thin. Mi tam tak chuan a tlai lutuk hma loh chuan an hre lo. Mi tam tak chuan ri sang tak hriat harsa an ti a, ṭhenkhat chuan a tâwpah chuan an hriatna zawng zawng an hloh thei bawk. A tawpah chuan hriatna hmanrua i hman a ngai mai thei. A nasat chuan i hriatna pawh i hloh vek thei (bengchheng).

Mit lamah harsatna chi hrang hrang a awm bawk. Mi thenkhat chuan mit (corneal abrasions) an nei tam zawk a, chu chu a dam rei zawk. Hei hian mit tui a thlen thei a, a na thei a, mahse a tlangpuiin mit a tichhe lo. Mi thenkhat chuan mit hmun thianghlim, lens, mit hmuhna (focus vision)-ah harsatna an nei a, a tawpah chuan mitdelna (cataract) an nei thei bawk.

Alport syndrome i vei a, hriatna emaw mit lama harsatna i neih chuan doctor pan nghal tur a ni.

Eng thilin nge Alport syndrome hi a thlen?

A awlsam zawngin, hei hi i collagen genes-a mutations avanga lo awm a ni.

Hei hi hri kai theih a ni em?

Ni lo, Alport syndrome hi natna hrik kai theih a ni lo. Mi pakhat atanga midang hnenah hnai taka inbiakpawhna hmanga kai a ni lo. Inherited condition a ni.

Engtin nge hei hi i hriat chian?

Microscopic hematuria emaw chronic kidney disease emaw i neih chuan doctor chuan Alport syndrome a ringhlel mai thei. I chhungkuaa mi pakhatin Alport syndrome a neih chuan test hmangin a hriat theih a ni. I chhungkuaa tumahin an nei lo a nih chuan doctor chuan i medical history leh test dang a neih dan a zirin a hre thei che a ni.

Doctor chuan i symptoms te chu a enfiah ang a, i chhungkaw medical history a zawt ang. Test hrang hrang pawhin hei hi a hriat theih nan a pui thei bawk. Heng test hrang hrangte hi:

  • Urinalysis: Hei hian i zun hmel, chemistry leh microscopic property te a test thin. Zun chhungah thisen emaw protein emaw a awm leh awm loh a hre thei.
  • Creatinine clearance test emaw cystatin C blood test emaw: Heng test te hian i thisena creatinine leh bawlhhlawh cystatin C, bawlhhlawh awm zat a teh thin. Hei hian i kal (kidney) hian i thisen a filter that zia a tilang thei a ni.
  • Estimated glomerular filtration rate (eGFR): Hei hi doctor-in creatinine emaw cystatin C emaw atanga a chhut value a ni a, i kal (kidney)-in i thisen a tihfai that dan a chhut a ni.
  • Kidney biopsy: Doctor chuan i kidney tissue te tak te tlemte a la a, microscope hmangin lab-ah a enfiah thin. Heng sample te hian i kal (kidney) a nghawng dan hrang hrang a tarlang a ni. Alport syndrome-ah chuan GBM chhia te chu a hring angin a lang a, mahse a thimna hmun a awm thei bawk. Natna a nasat chuan filtering unit leh supporting structure-ah scarring a lantir thei.
  • Genetic testing: Hei hian i collagen genes-a mutation awmte a hriat theih. Hei hian specialized genetics clinic tlawh a ngai dawn a ni. Hei hi doctor chuan thisen test emaw, chi sample emaw hmangin a ti ang.
  • Hearing test (audiogram): Doctor-in Alport syndrome a rinhlelh chuan hearing test an ti thei a ni. Alport syndrome nei apiangin he test hi an nei tur a ni. He test hi kum engemaw zat danah tih thin tur a ni a, hriatna hloh a tlahniam em tih leh a na zual em tih enfiah thin tur a ni.
  • Mit enfiah: He test hi mit natna hriat leh enkawlna lama mithiam, mit lama mithiamte tih tur a ni. I mit an enfiah ang a, i mit chunglam (cornea), lens leh i mit hnunglam (retina) te chu an en ang a, Alport syndrome hian i mit a nghawng em tih an en ang. Tin, imaging test optical coherence tomography (OCT) tih pawh an ti thei bawk.

Alport syndrome hi tihdam theih a ni em? Enkawlnate chu engte nge ni?

Alport syndrome hi damdawi a la awm lo . Zirchiangtute chuan gene chhia siamthatna tur gene therapies an siam mek a, mahse an la hlawhtling lo. Gene therapy hlawhtling tak siam ni ta se, kan neih hma kum tam tak a la awm dawn a ni. Mahse, kal hnathawh tlahniam tikhawtlai thei leh kal chak lohna tikhawtlai thei enkawlna a awm.

Doctor chuan hetiang hi a pe thei a:

  • Angiotensin-converting enzyme (ACE) inhibitors: Hengte hian i thisen sang a tihniam a, i zun chhunga protein a tihtlem bakah i kal (kidney) venhimna kawngah a pui bawk. Mipa (XLAS) vei leh (ARAS) vei tu pawhin ACE inhibitor hi an hmuhchhuah hnuah an ei tan tur a ni. Hmeichhia (XLAS) emaw (ADAS) vei te chuan an zun-a protein an hmuh tan veleh emaw, an hmuhchhuah lai emaw ACE inhibitor hi an ei tan tur a ni.
  • Angiotensin II receptor blockers (ARBs): ARBs hi ACE inhibitor nen an inang a, hlawkna inang an nei bawk.
  • Sodium-glucose transported type 2 (SGLT-2) inhibitors: CKD emaw Alport syndrome emaw i neih chuan SGLT-2 inhibitors hian i kal (kidney failure) hlauhawmna a tihziaawm thei a ni. I doctor chuan hengte hi i ACE inhibitor emaw ARB emaw ah a dah belh thei bawk. SGLT-2 inhibitor zawng zawng hi CKD enkawlna atana pawm vek a ni lo. I eGFR a hniam lutuk chuan i doctor chuan hengte hi a pe lo mai thei.
  • Sodium-controlled diet: I ei leh in a chi leh sodium awm zat tihtlem hian thisen sang a tihniam bakah kal leh thinlung hriselna a vawng reng thei bawk.

Kidney transplant hian Alport syndrome hi a tidam thei ang em?

Ni e, ni lo. Kidney transplant i tih hian ``Type IV collagen'' pangngai leh filtration membrane nei kidney i hmu a. Chuvangin Alport syndrome hi kal tharah a lo kir leh tawh dawn lo.

Mahse, kal transplant hian symptom dang, hriatna hloh leh mit lama harsatna te chu a pui dawn lo.

Engtin nge hei hi kan ven theih ang?

Alport syndrome hi a veng thei lo. Mahse, i chhûngkaw chanchin hriat chian chuan a hmaa i hriat theih nân a ṭanpui thei che a ni. I fate’n an kai darh loh nan a pui thei bawk.

Alport syndrome hriat hmasak a, ACE inhibitor/ARBs leh SGLT-2 inhibitor hmanga enkawl tan hi kidney failure tihkhawtlai dan tha ber a ni.

Doctor-in i zun-ah thisen a awm a tih chuan Alport syndrome test dang neih belh a tha a, a bik takin hriatna lama harsatna i neih emaw, kal hnathawh a tlahniam emaw a nih chuan.

I chhungkuaa mi tu emaw chuan zun (hematuria) ah thisen a awm tawh a nih chuan doctor in i zun ah thisen a awm leh awm loh a enfiah tur a ni a, thisen test te pawh i kal (kidney) hnathawh dan enfiah turin a ti tur a ni.

Alport syndrome ka neih chuan ka dam rei zawng chu eng ang nge ni ang?

Mipa `(XLAS)` vei leh `(ARAS)` vei tu pawhin kum 30 an tlin hmain kal (kidney failure) leh hriatna lama harsatna an nei fo thin.

XLAS vei hmeichhiate hian dam chhung pangngai an nei tlangpui. Microscopic hematuria, proteinuria, CKD, emaw, kal tha lo leh hriatna lama harsatna i nei thei bawk. Mi zawng zawngin kan chhan dan a inang lo. Mahse hmeichhia 16% chuan kum 60 an tlin chuan kidney failure an nei ang a, 20% chuan kum 80 an tlin hunah an kal (kidney failure) an nei ang.

`(ADAS)` vei te hian chhanna hrang hrang an nei thei a, dam rei zawng pangngai an nei thei bawk. `(ADAS)` ah hian hriatna hloh leh kal tha lo hi a tam lo hle.

Chronic kidney disease (CKD) leh kidney failure hian Alport syndrome vei te dam chhung a ti tawi tlangpui. CKD hian lung natna leh stroke avanga thihna a tipung a ni. Kidney failure hi dialysis emaw kidney transplant emaw tel lo chuan thihna thlen thei a ni. Enkawlna hmang pawhin kal (kidney failure) hian thinlung natna, stroke leh infection avanga thihna a tipung a ni. Kidney transplant-in hna a thawh that dan azirin, kidney transplant hian nun pangngaia i hman theih nan a pui thei che a ni.

Engtin nge ka in enkawl ang?

Alport syndrome i neih chuan doctor chuan enkawlna tur ruahmanna tha ber siam turin a pui ang che. Hei hian damdawi leh nunphung thlak danglam pawh a huam thei.

Damdawi lam enkawlna

  • I doctor-in a tih angin ACE inhibitor, ARBs, emaw SGLT-2 inhibitor emaw ei thin ang che.
  • Painkiller (non-steroidal anti-inflammatory drugs - NSAIDs) ei loh tur a ni. Hengte hian kal hnathawh dan dik lo emaw Alport syndrome emaw i neih chuan kal chak lohna a ti chak thei a ni.
  • I hriatna chu enfiah rawh.Hriatna lama harsatna nasa tak i neih a, i doctor-in hearing aid a rawt a nih chuan hman a tha. Chutiang a nih loh chuan, mi dangte nêna inbiak pawh harsa i ti thei a, chu chuan mahni chauha awm leh inhlat taka inhriatna a siam thei a ni. Heng inhlat taka inhriatnate hian lungngaihna a thlen thei a ni. Hearing aid hian i chhehvela mite nena in inlaichînna a ti ṭha thei a, i rilru a ti ṭha thei a, lungngaihna i enkawl emaw, i pumpelh emaw theih nân a ṭanpui thei bawk.
  • I rilru hriselna kha uluk takin enkawl rawh. Genetic condition neih hi mahni chauha awm a ni thei a, Alport syndrome hian kal (kidney failure) emaw, hriatna hloh emaw a thlen thei tih i hriat chuan depression i neih theihna a tipung thei a ni. I rilru lam harsatna i neih apiang i doctor nen inbiakna neih a pawimawh a, i mamawh enkawlna i hmuh a pawimawh. Alport syndrome vei te tanpuitu pawl a awm leh awm loh i doctor zawt rawh. Chutiang mite nena inhmuhna chuan mahni chauha awm lo turin a pui thei che a ni.

Nunphung a inthlak danglam thin

  • I ei tur a chi (salt) awm zat tihtlem la.
  • CKD i neih chuan ei leh in bik i zawm a ngai mai thei. Hei hian rannung protein ei tlem te, thing leh mau atanga siam ei leh in lama inthlak te, thisen potassium level sang i neih chuan potassium tamna ei loh te, thisen phosphorus emaw parathyroid hormone (PTH) level sang i neih chuan protein ei tlem te a huam thei bawk.
  • Lung hrisel nunphung zawm hian thinlung natna, zunthlum leh kal chak lohna thlen thei thil dang i neih theihna a ti tlem thei a ni. Exercise te, brisk walking, jogging, swimming, cycling, leh jumping rope te hi a tha hle. Tin, i taksa rihna hrisel tak, i tana tha tur i neih reng a tha bawk.
  • Meizial zu leh zuk leh hmuam thil dang ei loh tur. Meizial zuk bânsan tura ṭanpuina i mamawh chuan doctor pan rawh.

Engtikah nge Doctor ka hmuh ang?

I zun-ah thisen a awm a, hriatna a hloh emaw, mit a tlakchham emaw a nih chuan doctor pan rawh. Hengte hi Alport syndrome chhinchhiahna a ni thei.

Alport syndrome i neih chuan i doctor hian kidney specialist (nephrologist) hnenah a refer ngei ngei tur a ni.

I chhungkuaa mi pakhatin Alport syndrome a neih chuan doctor pan la, nang pawhin i vei em tih en rawh.

Doctor hnenah eng zawhna nge ka zawh ang?

Alport syndrome i vei thei nia i ngaih chuan, emaw, i chhungte zinga mi pakhatin Alport syndrome a vei a nih chuan, i doctor hnenah heng zawhnate hi zawt la:

  • Alport syndrome hriat dan i hria em?
  • Alport syndrome hriat chian thiam specialist hnenah min refer thei ang em?
  • Ka zun ah thisen a awm em?
  • Ka kal hnathawh a tlahniam em?
  • Hearing test emaw, mit test emaw ka nei tur em ni?
  • Kidney biopsy ka neih tur em ni?
  • Genetic test ka nei tur em ni?

Alport syndrome i neih chuan doctor hnenah heng zawhnate hi zawt la:

  • Engtin nge Alport syndrome ka nei tih i hriat?
  • Engtikah nge Alport syndrome chungchang hre chiangtu kidney specialist (nephrologist) hnenah ka refer theih ang?
  • Eng ang Alport syndrome nge ka neih?
  • Alport syndrome hi ka fate hnenah ka pass dawn em ni?
  • Ka `(GFR)` hi eng nge ni?
  • Ka zun ah hian protein engzat nge awm?
  • Engtikah nge `(ACE inhibitor)` emaw `(ARB)` emaw i tan?
  • SGLT-2 inhibitor hi ka hlawkpui dawn em?
  • Eng damdawi dang nge i rawt?
  • Ka kal hriselna enfiah turin eng chen nge appointment ka ruahman ang?
  • Engzat nge ka hriatna test ka neih ang?
  • Ka mit enfiah turin mit lam doctor ka hmu tur em ni?
  • Alport syndrome vei te tan support group i rawt thei ang em?

Alport syndrome hi i kal chhunga thisen kalna kawng a tichhe thei a ni. I genes-a mutations hian i kidney hnathawh dan a nghawng a, i hriatna leh mit hmuhna pawh a nghawng thei bawk.

He natna hmuhchhuah leh Alport syndrome hian i nun a nghawng dan i hriat chian chuan rilru natna chi hrang hrang i nei thei a ni. I dinhmun leh enkawlna kawng hrang hrangte hriatthiamna hun leh hmun i pek a pawimawh. I duhthlanna leh i beisei tûr hriatna chuan i rilru put hmang chu i thunun thei a ni. I hriselna chungchanga thutlukna hnuhnung ber siamtu chu nangmah i ni a, i doctor pawhin thu leh hla leh kaihhruaina pe turin a awm reng a ni. Zawhna i neih chuan, tanpuina i mamawh a, thurawn i mamawh chuan sawipui rawh.

In lama hruai tur thuchah pawimawh ber

Alport syndrome hi natna khirh tak, dam chhung zawnga genetic condition ni mahse, a hmaa hriatchhuah leh enkawl dan dik chuan mite chu a tam zawk chu nun pangngaia nunpui turin a pui thei a ni.

I chhungkuaa mi tu emaw hian heng symptoms (a bik takin zun chhunga thisen, hriatna hloh), emaw, nangmah ngeiin i tawn a nih chuan doctor thurawn lak hi a tlai ngai lo. Test leh enkawlna dik tak i neih chuan kal chhiatna i tihtlem thei a, i nunphung pawh i vawng reng thei bawk. Nangmah chauh i ni lo tih hre reng la, doctor leh i hmangaih tak takte pawh tanpui turin an awm reng a ni.


` Alport syndrome, kal natna, thlah natna, collagen, zun chhunga thisen, hriatna hloh, mit natna

Frequently Asked Questions (FAQ)

Kidney transplant hian Alport syndrome hi a tidam thei ang em?

Ni e, ni lo. Kidney transplant i tih hian ``Type IV collagen'' pangngai leh filtration membrane nei kidney i hmu a. Chuvangin Alport syndrome hi kal tharah a lo kir leh tawh dawn lo.

⚠️ Important: The medical articles and information on Nirogi Lanka are for general awareness only, and are by no means a substitute for professional medical advice, diagnosis, or treatment. For any medical problem you have, consult a qualified physician immediately.

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Alport Syndrome hi i hria em? Kan sawi dawn nia!

Alport Syndrome hi i hria em? Kan sawi dawn nia!

I zun ah thisen tlem a awm tih i hmu ngai em? A nih loh leh, a chang chuan i hriatna a hniam deuh emaw, i mit a danglam deuh emaw ang maiin i inhria em? Hengte hi a chang chuan kan nitin nunah kan ngaih pawimawh vak loh thil a ni. Mahse, a châng chuan heng chhinchhiahna tenau tak takte hnung lamah hian ngaihven tûr engemaw zât ngai dinhmun a awm thei a, chu chu Alport Syndrome . Chuvangin vawiin hian he thu hi i hriatthiam theih tur awlsam takin kan sawi dawn a ni.

Alport Syndrome hi eng nge ni?

A awlsam zawngin sawi ila, Alport syndrome hi i kal (kidney)-in Type IV collagen proteins a siam chhuah dan pangngaia a siam chhuah theih lohna genetic condition a ni.

Ngaihtuah teh, he ``Type IV collagen'' hi collagen chain pathum (alpha chain) hrui ang maia inzawm khawm atanga siam a ni. Heng chain te hi alpha 3, alpha 4, leh alpha 5 an ti a, tunah chuan i taksain heng chain zinga pakhat mah a siam chhuah loh chuan a dang pahnih chu an inzawm khawm thei tawh lo. Chutih lai chuan Alport syndrome symptom na ber berte chu a lo lang ta a ni.

A châng chuan, heng chain zawng zawng hi i taksaah a lo awm vek a, mahse pakhat chu a lo insiam ṭhat loh chuan, a châng chuan chain chu a inzawm khawm thei lo va, a nih loh leh inzawm khawm pawh ni se, a thawk ṭha lo. Hetiang hunah hian symptoms te hi a tlahniam deuh thei a ni.

He protein hi ``Type IV collagen'' an tih hi i kal chhunga filtering membrane, ``glomerular basement membrane emaw GBM'' te tan a pawimawh hle. He ``(GBM)'' hian i thisen a filter a, taksain a mamawh loh toxin leh thil dang a thliar hrang a, zun siamna kawngah a pui bawk. Tin, thisen chhunga thisen cell leh protein ang chi thil te chu zun chhunga lut lovin thisenah a awm reng theih nan a pui bawk.

Tunah chuan he `(GBM)` hian hna a thawk tha lo a nih chuan thisen emaw protein emaw i zunah a leak thei a ni. Hun a kal zel a, i kal (kidney) hian zun a filter theihna pawh a tlahniam bawk. Hei hian kal (kidney failure) a tipung a ni.

Mahse hei hian kal (kidney) chauh a nghawng lo. He ``Type IV collagen'' hi i beng leh mit ah pawh a awm bawk. Chuvangin, kal lama harsatna bakah hian Alport syndrome vei chuan mit leh hriatna lama harsatna a nei thei bawk.

Engtin nge hei hi kan rochun ang?

Alport syndrome hi genetic type pathum a awm a. Eng nge an nih i han thlir teh ang.

X-linked Alport natna (XLAS) natna hi a awm lo.

Hei hi i X chromosome nen a inzawm tlat a ni. X chromosome hi i sex chromosome pahnih (X leh Y) zinga pakhat a ni. Alpha 5 chain `(COL4A5)` siamtu gene a awm a ni.

Tunah chuan en teh, mipa hian X chromosome pakhat leh Y chromosome pakhat a nei a. Hmeichhia chuan X chromosome pahnih a nei a. Mipa hian X chromosome chhia pakhat chauh an neih avangin symptom na tak tak an nei tam zawk. Hmeichhia hian X chromosome pakhat chhia leh X chromosome hrisel pakhat an neih avangin an natna lan chhuah dan hi a na zawk tlangpui.

Mipa pakhat chuan a Y chromosome chu a fapate hnenah a pe a. Chuvangin an fapate hnenah `(XLAS)` an pass thei lo. Mahse, mipa pakhat chuan a X chromosome chu a fanute zawng zawng hnenah a pass vek a ni. Chuvangin a fanute zawng zawng hian Alport syndrome an vei thei vek a ni.

Hmeichhia chuan a X chromosome pahnih zinga pakhat chu a fa hnenah a pe chhuak a, naupang chu mipa emaw hmeichhia emaw pawh nise. Chuvangin, naupang tu hnenah pawh `(XLAS)` a pek chhuah theihna chance 50% a nei a ni.

He `(XLAS)` hi Alport syndrome chi khat a ni ber. Alport syndrome vei zawng zawng zinga 60% leh 80% vel chu he chi hi an ni.

A rilru a buai em em a, a rilru a hah em em bawk a. Autosomal recessive Alport syndrome (ARAS) .

"Autosomal" tih hian autosomal gene pahnih 23 a kawk a ni. "Autosomal recessive" tih hian inheritance pattern a kawk a ni. Nu leh pa pakhatin autosomal recessive trait a neih chuan symptoms an nei lovang. An fate hnena a thlen theih nan chuan nu leh pa pahnih hian chu mizia chu an keng tel tur a ni. Mahse, symptom an neih loh avangin an nei tih pawh an hre lo.

Alport syndrome-ah chuan alpha 3 (COL4A3) leh alpha 4 (COL4A4) protein encode tu gene te chu chromosome 2-ah an awm a, "Recessive" tih awmzia chu natna lo awm tur chuan gene pair pakhata gene pahniha mutations a ngai tihna a ni.

Chuvangin, `(ARAS)`-ah hian chromosome 2-a alpha 3 emaw alpha 4 emaw protein encode tu gene-ah mutation a awm a, `(ARAS)` hi mipa leh hmeichhiaah a innghat lo va, chuvangin inheritance leh symptoms nasat dan chu mi zawng zawng tan a inang vek a ni.

`(ARAS)` i neih chuan i fate hian heng gene dik lo zinga pakhat hi an pass theihna chance 50% an nei a ni. Hei hian Alport syndrome a thlen lo tlangpui. Mahse, i fate hnenah gene dik lo pahnih hi i pass theihna chance 25% a awm. Hetiang a nih chuan i fa hian `(ARAS)` a nei ang.

(ARAS) hi Alport syndrome vei zinga 15% vel a ni.

A rilru a buai em em a, a rilru a hah em em bawk a. Autosomal dominant Alport syndrome (ADAS) .

"Dominant" tih awmzia chu natna pakhat chu gene pahnih pakhata gene pakhat chauh a mutation vang a ni thei tihna a ni. ADAS-ah chuan chromosome 2-a protein COL4A3 emaw COL4A4 emaw encode tu gene pakhatah mutation a awm a.

ADAS hi mipa leh hmeichhiaah a innghat lo va, chuvangin heritability leh symptoms nasat dan hi mi zawng zawng tan a inang vek a ni.

ADAS i neih chuan i fate hian he gene chhia hi an pass a, ADAS an neih theihna chance 50% a awm.

(ADAS) hi Alport syndrome vei zinga 25% leh 35% inkar a ni.

Hei hian tute nge nghawng a neih? Engtiang chiahin nge a hluar?

Alport syndrome hian tu pawh a nghawng thei. Inherited condition a ni a, chu chu nu leh pa pakhat emaw, pahnih emaw chuan an fa hnenah an pe chhuak tihna a ni. Mahse, 15% vel chu nu leh pa pahnihin mutated gene an neih loh pawhin a lo awm thei a ni.

Doctor-te chuan Alport syndrome hi thil awm lo tak niin an ngai.Zirchiangtute chuan United States-ah hian mi 200,000 aia tlem loin an nei niin an sawi. Khawvel pumah nau piang nung 50,000 zinga pakhat vel a ni. Mahse, zirchiangtute chuan he thil hi an zirchian zel avangin symptom nei tlem zawk mi an hmuchhuak ta a ni. Chuvangin tuna kan hriat aiin Alport syndrome hi a tam zawk mai thei.

Engtin nge Alport syndrome hian kidney failure a thlen?

Alport syndrome i neih chuan a hmaa ka sawi tawh glomerular basement membrane te hi a filter tha lo. Chuvangin thisen leh protein te chu zun chhungah a leak lut thin. Chu mai pawh ni lovin, chu membrane sir lehlama cell te chuan support dik tak an hmu lo. Tichuan chu cell te chu an thinrim a , an inflamed ta a ni . Heng cell podocyte an tih te hian GBM hi an siam thin. A chhehvel cell te chu an inflamed chuan heng podocytes te hian GBM ah hian type IV collagen tam zawk dah an tum thin. Chutiang a nih chuan GBM chu a thick a, a disorganized ta a ni. Hei vang hian protein chu zun (proteinuria) ah a leak lut thin.

Hun a kal zel a, zun chhunga protein tam zawk a kal chuan GBM chu a thim a, scar tissue (fibrosis) a lo awm thei bawk. Chuvang chuan i kal (kidney) te chuan i thisen tihfai theihna an hloh tan ta a ni. Hei hi chronic kidney disease (CKD) an ti a. Scar tissue tam zawk a lo pun zel chuan kidney function a chhe zual a, a tawpah chuan kidney hian hna a thawk tawh lo (kidney failure).

Alport syndrome natna lan chhuah dan ber berte chu engte nge ni?

I neih chi hrang hrang a zirin symptoms a inang lo thei. A lan chhuah dan ber chu:

  • Zun chhunga thisen i hmuh theih loh (microscopic hematuria).
  • Zun chhunga protein awm (proteinuria).
  • Chronic kidney disease (CKD) emaw kal tha lo emaw.
  • Hriatna hloh.
  • Mit lama harsatna nei.

Alport syndrome chhinchhiahna hmasa ber chu microscopic hematuria a ni. Chumi awmzia chu i GBM chhia chuan i zun chhungah thisen sen (red blood cells) a luang lut tihna a ni. Hei hi mitin hmuh theih a ni lova, microscope hmanga hmuh theih chauh a ni. XLAS vei mipa leh ARAS vei tu pawhin an pian tirh atangin microscopic hematuria an nei thei. XLAS vei hmeichhe tam tak chuan hun kal zelah microscopic hematuria an nei thin. ADAS vei zawng zawng hian microscopic hematuria an nei vek lo.

Chronic kidney disease (CKD) hi kal hnathawh a tlahniam tan chuan a lo awm thin. Mi tam tak chuan an kal (kidney) chu operation theih loh a nih hma chuan CKD symptoms an nei lo.

Kidney failure chhinchhiahna: 1.1.

  • Swelling (edema), a bik takin kut emaw ke ruh vel emaw.
  • Chauhna nasa tak a awm.
  • Nausea leh luak chhuak.
  • Muscle a ti na hle.

XLAS leh ARAS nei mipaah ​​hian hriatna hloh hi a tam zawk. Mahse Alport syndrome nei apiangah a thleng thei. Hriatna hloh hi a thleng zauh zauh thin. Mi tam tak chuan a tlai lutuk hma loh chuan an hre lo. Mi tam tak chuan ri sang tak hriat harsa an ti a, ṭhenkhat chuan a tâwpah chuan an hriatna zawng zawng an hloh thei bawk. A tawpah chuan hriatna hmanrua i hman a ngai mai thei. A nasat chuan i hriatna pawh i hloh vek thei (bengchheng).

Mit lamah harsatna chi hrang hrang a awm bawk. Mi thenkhat chuan mit (corneal abrasions) an nei tam zawk a, chu chu a dam rei zawk. Hei hian mit tui a thlen thei a, a na thei a, mahse a tlangpuiin mit a tichhe lo. Mi thenkhat chuan mit hmun thianghlim, lens, mit hmuhna (focus vision)-ah harsatna an nei a, a tawpah chuan mitdelna (cataract) an nei thei bawk.

Alport syndrome i vei a, hriatna emaw mit lama harsatna i neih chuan doctor pan nghal tur a ni.

Eng thilin nge Alport syndrome hi a thlen?

A awlsam zawngin, hei hi i collagen genes-a mutations avanga lo awm a ni.

Hei hi hri kai theih a ni em?

Ni lo, Alport syndrome hi natna hrik kai theih a ni lo. Mi pakhat atanga midang hnenah hnai taka inbiakpawhna hmanga kai a ni lo. Inherited condition a ni.

Engtin nge hei hi i hriat chian?

Microscopic hematuria emaw chronic kidney disease emaw i neih chuan doctor chuan Alport syndrome a ringhlel mai thei. I chhungkuaa mi pakhatin Alport syndrome a neih chuan test hmangin a hriat theih a ni. I chhungkuaa tumahin an nei lo a nih chuan doctor chuan i medical history leh test dang a neih dan a zirin a hre thei che a ni.

Doctor chuan i symptoms te chu a enfiah ang a, i chhungkaw medical history a zawt ang. Test hrang hrang pawhin hei hi a hriat theih nan a pui thei bawk. Heng test hrang hrangte hi:

  • Urinalysis: Hei hian i zun hmel, chemistry leh microscopic property te a test thin. Zun chhungah thisen emaw protein emaw a awm leh awm loh a hre thei.
  • Creatinine clearance test emaw cystatin C blood test emaw: Heng test te hian i thisena creatinine leh bawlhhlawh cystatin C, bawlhhlawh awm zat a teh thin. Hei hian i kal (kidney) hian i thisen a filter that zia a tilang thei a ni.
  • Estimated glomerular filtration rate (eGFR): Hei hi doctor-in creatinine emaw cystatin C emaw atanga a chhut value a ni a, i kal (kidney)-in i thisen a tihfai that dan a chhut a ni.
  • Kidney biopsy: Doctor chuan i kidney tissue te tak te tlemte a la a, microscope hmangin lab-ah a enfiah thin. Heng sample te hian i kal (kidney) a nghawng dan hrang hrang a tarlang a ni. Alport syndrome-ah chuan GBM chhia te chu a hring angin a lang a, mahse a thimna hmun a awm thei bawk. Natna a nasat chuan filtering unit leh supporting structure-ah scarring a lantir thei.
  • Genetic testing: Hei hian i collagen genes-a mutation awmte a hriat theih. Hei hian specialized genetics clinic tlawh a ngai dawn a ni. Hei hi doctor chuan thisen test emaw, chi sample emaw hmangin a ti ang.
  • Hearing test (audiogram): Doctor-in Alport syndrome a rinhlelh chuan hearing test an ti thei a ni. Alport syndrome nei apiangin he test hi an nei tur a ni. He test hi kum engemaw zat danah tih thin tur a ni a, hriatna hloh a tlahniam em tih leh a na zual em tih enfiah thin tur a ni.
  • Mit enfiah: He test hi mit natna hriat leh enkawlna lama mithiam, mit lama mithiamte tih tur a ni. I mit an enfiah ang a, i mit chunglam (cornea), lens leh i mit hnunglam (retina) te chu an en ang a, Alport syndrome hian i mit a nghawng em tih an en ang. Tin, imaging test optical coherence tomography (OCT) tih pawh an ti thei bawk.

Alport syndrome hi tihdam theih a ni em? Enkawlnate chu engte nge ni?

Alport syndrome hi damdawi a la awm lo . Zirchiangtute chuan gene chhia siamthatna tur gene therapies an siam mek a, mahse an la hlawhtling lo. Gene therapy hlawhtling tak siam ni ta se, kan neih hma kum tam tak a la awm dawn a ni. Mahse, kal hnathawh tlahniam tikhawtlai thei leh kal chak lohna tikhawtlai thei enkawlna a awm.

Doctor chuan hetiang hi a pe thei a:

  • Angiotensin-converting enzyme (ACE) inhibitors: Hengte hian i thisen sang a tihniam a, i zun chhunga protein a tihtlem bakah i kal (kidney) venhimna kawngah a pui bawk. Mipa (XLAS) vei leh (ARAS) vei tu pawhin ACE inhibitor hi an hmuhchhuah hnuah an ei tan tur a ni. Hmeichhia (XLAS) emaw (ADAS) vei te chuan an zun-a protein an hmuh tan veleh emaw, an hmuhchhuah lai emaw ACE inhibitor hi an ei tan tur a ni.
  • Angiotensin II receptor blockers (ARBs): ARBs hi ACE inhibitor nen an inang a, hlawkna inang an nei bawk.
  • Sodium-glucose transported type 2 (SGLT-2) inhibitors: CKD emaw Alport syndrome emaw i neih chuan SGLT-2 inhibitors hian i kal (kidney failure) hlauhawmna a tihziaawm thei a ni. I doctor chuan hengte hi i ACE inhibitor emaw ARB emaw ah a dah belh thei bawk. SGLT-2 inhibitor zawng zawng hi CKD enkawlna atana pawm vek a ni lo. I eGFR a hniam lutuk chuan i doctor chuan hengte hi a pe lo mai thei.
  • Sodium-controlled diet: I ei leh in a chi leh sodium awm zat tihtlem hian thisen sang a tihniam bakah kal leh thinlung hriselna a vawng reng thei bawk.

Kidney transplant hian Alport syndrome hi a tidam thei ang em?

Ni e, ni lo. Kidney transplant i tih hian ``Type IV collagen'' pangngai leh filtration membrane nei kidney i hmu a. Chuvangin Alport syndrome hi kal tharah a lo kir leh tawh dawn lo.

Mahse, kal transplant hian symptom dang, hriatna hloh leh mit lama harsatna te chu a pui dawn lo.

Engtin nge hei hi kan ven theih ang?

Alport syndrome hi a veng thei lo. Mahse, i chhûngkaw chanchin hriat chian chuan a hmaa i hriat theih nân a ṭanpui thei che a ni. I fate’n an kai darh loh nan a pui thei bawk.

Alport syndrome hriat hmasak a, ACE inhibitor/ARBs leh SGLT-2 inhibitor hmanga enkawl tan hi kidney failure tihkhawtlai dan tha ber a ni.

Doctor-in i zun-ah thisen a awm a tih chuan Alport syndrome test dang neih belh a tha a, a bik takin hriatna lama harsatna i neih emaw, kal hnathawh a tlahniam emaw a nih chuan.

I chhungkuaa mi tu emaw chuan zun (hematuria) ah thisen a awm tawh a nih chuan doctor in i zun ah thisen a awm leh awm loh a enfiah tur a ni a, thisen test te pawh i kal (kidney) hnathawh dan enfiah turin a ti tur a ni.

Alport syndrome ka neih chuan ka dam rei zawng chu eng ang nge ni ang?

Mipa `(XLAS)` vei leh `(ARAS)` vei tu pawhin kum 30 an tlin hmain kal (kidney failure) leh hriatna lama harsatna an nei fo thin.

XLAS vei hmeichhiate hian dam chhung pangngai an nei tlangpui. Microscopic hematuria, proteinuria, CKD, emaw, kal tha lo leh hriatna lama harsatna i nei thei bawk. Mi zawng zawngin kan chhan dan a inang lo. Mahse hmeichhia 16% chuan kum 60 an tlin chuan kidney failure an nei ang a, 20% chuan kum 80 an tlin hunah an kal (kidney failure) an nei ang.

`(ADAS)` vei te hian chhanna hrang hrang an nei thei a, dam rei zawng pangngai an nei thei bawk. `(ADAS)` ah hian hriatna hloh leh kal tha lo hi a tam lo hle.

Chronic kidney disease (CKD) leh kidney failure hian Alport syndrome vei te dam chhung a ti tawi tlangpui. CKD hian lung natna leh stroke avanga thihna a tipung a ni. Kidney failure hi dialysis emaw kidney transplant emaw tel lo chuan thihna thlen thei a ni. Enkawlna hmang pawhin kal (kidney failure) hian thinlung natna, stroke leh infection avanga thihna a tipung a ni. Kidney transplant-in hna a thawh that dan azirin, kidney transplant hian nun pangngaia i hman theih nan a pui thei che a ni.

Engtin nge ka in enkawl ang?

Alport syndrome i neih chuan doctor chuan enkawlna tur ruahmanna tha ber siam turin a pui ang che. Hei hian damdawi leh nunphung thlak danglam pawh a huam thei.

Damdawi lam enkawlna

  • I doctor-in a tih angin ACE inhibitor, ARBs, emaw SGLT-2 inhibitor emaw ei thin ang che.
  • Painkiller (non-steroidal anti-inflammatory drugs - NSAIDs) ei loh tur a ni. Hengte hian kal hnathawh dan dik lo emaw Alport syndrome emaw i neih chuan kal chak lohna a ti chak thei a ni.
  • I hriatna chu enfiah rawh.Hriatna lama harsatna nasa tak i neih a, i doctor-in hearing aid a rawt a nih chuan hman a tha. Chutiang a nih loh chuan, mi dangte nêna inbiak pawh harsa i ti thei a, chu chuan mahni chauha awm leh inhlat taka inhriatna a siam thei a ni. Heng inhlat taka inhriatnate hian lungngaihna a thlen thei a ni. Hearing aid hian i chhehvela mite nena in inlaichînna a ti ṭha thei a, i rilru a ti ṭha thei a, lungngaihna i enkawl emaw, i pumpelh emaw theih nân a ṭanpui thei bawk.
  • I rilru hriselna kha uluk takin enkawl rawh. Genetic condition neih hi mahni chauha awm a ni thei a, Alport syndrome hian kal (kidney failure) emaw, hriatna hloh emaw a thlen thei tih i hriat chuan depression i neih theihna a tipung thei a ni. I rilru lam harsatna i neih apiang i doctor nen inbiakna neih a pawimawh a, i mamawh enkawlna i hmuh a pawimawh. Alport syndrome vei te tanpuitu pawl a awm leh awm loh i doctor zawt rawh. Chutiang mite nena inhmuhna chuan mahni chauha awm lo turin a pui thei che a ni.

Nunphung a inthlak danglam thin

  • I ei tur a chi (salt) awm zat tihtlem la.
  • CKD i neih chuan ei leh in bik i zawm a ngai mai thei. Hei hian rannung protein ei tlem te, thing leh mau atanga siam ei leh in lama inthlak te, thisen potassium level sang i neih chuan potassium tamna ei loh te, thisen phosphorus emaw parathyroid hormone (PTH) level sang i neih chuan protein ei tlem te a huam thei bawk.
  • Lung hrisel nunphung zawm hian thinlung natna, zunthlum leh kal chak lohna thlen thei thil dang i neih theihna a ti tlem thei a ni. Exercise te, brisk walking, jogging, swimming, cycling, leh jumping rope te hi a tha hle. Tin, i taksa rihna hrisel tak, i tana tha tur i neih reng a tha bawk.
  • Meizial zu leh zuk leh hmuam thil dang ei loh tur. Meizial zuk bânsan tura ṭanpuina i mamawh chuan doctor pan rawh.

Engtikah nge Doctor ka hmuh ang?

I zun-ah thisen a awm a, hriatna a hloh emaw, mit a tlakchham emaw a nih chuan doctor pan rawh. Hengte hi Alport syndrome chhinchhiahna a ni thei.

Alport syndrome i neih chuan i doctor hian kidney specialist (nephrologist) hnenah a refer ngei ngei tur a ni.

I chhungkuaa mi pakhatin Alport syndrome a neih chuan doctor pan la, nang pawhin i vei em tih en rawh.

Doctor hnenah eng zawhna nge ka zawh ang?

Alport syndrome i vei thei nia i ngaih chuan, emaw, i chhungte zinga mi pakhatin Alport syndrome a vei a nih chuan, i doctor hnenah heng zawhnate hi zawt la:

  • Alport syndrome hriat dan i hria em?
  • Alport syndrome hriat chian thiam specialist hnenah min refer thei ang em?
  • Ka zun ah thisen a awm em?
  • Ka kal hnathawh a tlahniam em?
  • Hearing test emaw, mit test emaw ka nei tur em ni?
  • Kidney biopsy ka neih tur em ni?
  • Genetic test ka nei tur em ni?

Alport syndrome i neih chuan doctor hnenah heng zawhnate hi zawt la:

  • Engtin nge Alport syndrome ka nei tih i hriat?
  • Engtikah nge Alport syndrome chungchang hre chiangtu kidney specialist (nephrologist) hnenah ka refer theih ang?
  • Eng ang Alport syndrome nge ka neih?
  • Alport syndrome hi ka fate hnenah ka pass dawn em ni?
  • Ka `(GFR)` hi eng nge ni?
  • Ka zun ah hian protein engzat nge awm?
  • Engtikah nge `(ACE inhibitor)` emaw `(ARB)` emaw i tan?
  • SGLT-2 inhibitor hi ka hlawkpui dawn em?
  • Eng damdawi dang nge i rawt?
  • Ka kal hriselna enfiah turin eng chen nge appointment ka ruahman ang?
  • Engzat nge ka hriatna test ka neih ang?
  • Ka mit enfiah turin mit lam doctor ka hmu tur em ni?
  • Alport syndrome vei te tan support group i rawt thei ang em?

Alport syndrome hi i kal chhunga thisen kalna kawng a tichhe thei a ni. I genes-a mutations hian i kidney hnathawh dan a nghawng a, i hriatna leh mit hmuhna pawh a nghawng thei bawk.

He natna hmuhchhuah leh Alport syndrome hian i nun a nghawng dan i hriat chian chuan rilru natna chi hrang hrang i nei thei a ni. I dinhmun leh enkawlna kawng hrang hrangte hriatthiamna hun leh hmun i pek a pawimawh. I duhthlanna leh i beisei tûr hriatna chuan i rilru put hmang chu i thunun thei a ni. I hriselna chungchanga thutlukna hnuhnung ber siamtu chu nangmah i ni a, i doctor pawhin thu leh hla leh kaihhruaina pe turin a awm reng a ni. Zawhna i neih chuan, tanpuina i mamawh a, thurawn i mamawh chuan sawipui rawh.

In lama hruai tur thuchah pawimawh ber

Alport syndrome hi natna khirh tak, dam chhung zawnga genetic condition ni mahse, a hmaa hriatchhuah leh enkawl dan dik chuan mite chu a tam zawk chu nun pangngaia nunpui turin a pui thei a ni.

I chhungkuaa mi tu emaw hian heng symptoms (a bik takin zun chhunga thisen, hriatna hloh), emaw, nangmah ngeiin i tawn a nih chuan doctor thurawn lak hi a tlai ngai lo. Test leh enkawlna dik tak i neih chuan kal chhiatna i tihtlem thei a, i nunphung pawh i vawng reng thei bawk. Nangmah chauh i ni lo tih hre reng la, doctor leh i hmangaih tak takte pawh tanpui turin an awm reng a ni.


` Alport syndrome, kal natna, thlah natna, collagen, zun chhunga thisen, hriatna hloh, mit natna

Frequently Asked Questions (FAQ)

Kidney transplant hian Alport syndrome hi a tidam thei ang em?

Ni e, ni lo. Kidney transplant i tih hian ``Type IV collagen'' pangngai leh filtration membrane nei kidney i hmu a. Chuvangin Alport syndrome hi kal tharah a lo kir leh tawh dawn lo.

⚠️ Important: The medical articles and information on Nirogi Lanka are for general awareness only, and are by no means a substitute for professional medical advice, diagnosis, or treatment. For any medical problem you have, consult a qualified physician immediately.

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