I taksa cell chhungah cystine a awm em? Hei hi cystinosis an ti a!

Ngaihtuah teh, kan taksa chhunga cell te tak te chhungah hian `(cystine)` (cysteine) an tih amino acid a lo awm khawm tan a nih chuan eng nge thleng ang? Chu chu `(Cystinosis) an tih dinhmun chu a ni. Hei hi genetic disease hmuh tur awm lo tak a ni a, mahse a pawimawh em em anga ngaih tur a ni. `(cystine)` chu cell chhungah a khawlkhawm tam lutuk chuan chu cell te chu a chhe thei a ni. A dik zawka sawi chuan he `(cystine)` hian cell chhungah crystal te te a siam a, a pungkhawm chuan kan taksa peng hrang hrang leh tissue hrang hrangte tan harsatna a thlen thin. He `(Cystinosis)` chungchang hi vawiin hian chipchiar tak leh awlsam takin han sawi ila, okay?

Cystinosis hi eng nge ni? I hrethiam ang u!

A awlsam zawngin, cystinosis hi genetic condition a ni . Hemi a thil thleng chu kan cell chhungah amino acid `(cystine)` (cysteine) a awm khawm a ni. I hria em, amino acid hi kan taksa tan a pawimawh hle. Amaherawhchu, he `(cystine)` hi cell-ah a tam lutuk chuan cell tan a pawi hle. Hetianga `(cystine)` tam lutuk avang hian cell chhungah hian thil ang chi crystal te te a lo awm thin . Heng crystal te hi zawi zawiin an pungkhawm a, kan taksa peng hrang hrang leh tissue hrang hrangte chu an tichhe tan thin.

Cystinosis hian kal leh mit a nghawng tam ber . Mahse, thluak, ruh, thin, thyroid, pancreas, leh mipaah ​​chuan testicles te a tichhe thei bawk.

Hei hi a tlem hle a, mi sangkhat zinga pakhat vel a nghawng tihna a ni. Mahse, natna khirh tak, dam chhung zawnga natna a ni . Mahse, a hmaa hriatchhuah a nih a, uluk taka enkawl a nih chuan natna zual zel leh zual zel dan chu a tam zawkah chuan thunun theih a ni. Mahse, mi tam tak chuan a tawpah chuan end-stage kidney disease an nei a, kidney transplant an mamawh a ni.

Cystinosis chi hrang hrang a awm em?

Ni e, cystinosis hi chi thum a awm a. Heng chi hrang hrangte hi natna lan chhuah hmasak ber kum (i.e. natna a lo chhuah tirh) leh a lan chhuah nasat dan a zirin an thliar hrang thin.

1. Nephropathic cystinosis (nausen chi hrang hrang) .

Hei hi a tam ber chi a ni . Cystinosis vei zinga 95% velin he chi hi an nei a ni. Tin , a na ber chi a ni bawk . Infantile cystinosis an ti bawk.

Hetiang `(Nephropathic cystinosis)` vei naute hian natna bik an nei a, chu chuan kal a tichhe thin . Chu chu `(renal Fanconi syndrome)` an ti a. Hetiang dinhmunah hian kan taksa mamawh mineral leh nutrient dangte chu thisenah a lut tha lo va, zunah a chhuak thin. Chutianga naupang tê tak tê taksain a mamawh thilte a hloh hian, .Naute thanna a tlahniam a, ruh a chak lo a, a ben thei bawk (hei hi ``rickets'' an ti bawk), harsatna dang tam tak a awm thei bawk.

A tlangpuiin, kum hnih an tlin chuan naupang mit mitmeng (cornea)-ah cystine crystals a lo awm tan thin. Heng crystal te hi an pung khawm a, hun kal zelah mit chu êng lakah a sensitive ta (photophobia). Hei hian mit na tak leh nuam lo tak a thlen thei a ni . Ni ênga kan hmuh chuan mit a sen vek ang mai a ni.

Hetiang `(Nephropathic cystinosis)` nei naupangte hian kal thlak an mamawh tak zet a ni. Enkawl loh chuan kum 10 an tlin chuan kal (kidney) chu a thawk tha lo vek thei a, mahse, uluk taka enkawl a nih chuan heng naupangte hi nunphung tha tak nen puitling thlengin an nung thei a ni.

2. Intermediate cystinosis (naupang atanga lo awm tan chi) .

Hei hi adolescent emaw juvenile cystinosis emaw an ti bawk. Nausen cystinosis natna lan chhuah dan nen a inang a, mahse naupan lai emaw, tleirawl lai emaw hian a lan chhuah dan a lang . Symptoms hi a na lo thei a, hun kal zelah a na zual thei bawk.

Hetiang cystinosis vei te hian a tawpah chuan kidney transplant an mamawh dawn a ni. Enkawl loh chuan kum 15-25 chhungin kal hi a thawk tha lo vek thei a ni .

3. Non-nephropathic cystinosis (mit chauh khawih chi) .

Hei hi benign cystinosis, emaw ocular cystinosis emaw an ti bawk. Hetiang chi hian mit chauh a nghawng a ni . Mit cornea-ah cystine crystals a lo awm a, chu chuan photophobia a thlen thin. Mahse, hetiang chi vei tam zawk hian kal (kidney) tihchhiat emaw, natna dang emaw an nei lo .

He natna hi a hriat theih kum (Non-nephropathic cystinosis) hi a inang lo thei a, a lan chhuah dan a tlem avangin. Mahse, puitling kum chanve vel a nghawng tlangpui.

Tute nge cystinosis vei?

Cystinosis hi genetic condition a ni a , tu pawh a nghawng thei . He natna hi autosomal recessive pattern-a rochun a ni. Hei hian nu leh pa pahnih hian natna atana mutated gene an keng tel tur a ni tihna a ni . Nu leh pa pahnih hi mutated gene kengtu an nih chuan (a awmzia chu symptoms nei lo, mahse gene nei) an nih chuan cystinosis nei fa neih theihna chance 25% (pali zinga pakhat) an nei a ni.

He natna hi engtiang chiahin nge a hluar?

Cystinosis hi natna hmuh tur awm lo tak a ni . Khawvel pumah nau piang 100,000 atanga 200,000 zinga pakhat chauh a nghawng a ni.

Engtin nge cystinosis hian kan taksa a nghawng?

Cystinosis hi natna chi khat `(lysosomal storage disorder)` an tih zingah a tel ve a ni. Ngaihtuah teh, kan cell chhungah hian organelle te tak te `(lysosomes)` tih te a awm a . Chungte chu cell chhunga bawlhhlawh bawm ang mai an ni. Carbohydrates, proteins, leh fats te ang chi nutrients te an ti chhe vek a ni. Protein thenkhat chuan `(enzyme)` angin hna an thawk a, heng nutrients te hi taksain a hip lut thei a ni. Protein dang thenkhat chu `(transporter)` angin an thawk a. Chu chu, heng transporter-te hian chu thil chhe tawh atanga `(cystine)` la awm chu lysosomes atangin an la chhuak tihna a ni.

Tunah chuan chutiang transport protein pakhat i hloh chuan `(cystine)` chu lysosomes atangin a chhuak thei lo va, cell chhungah a pung khawm tan ta a ni. Chutah chuan `(cystine)` hian cluster a siam a, chu chuan taksa peng hrang hrang a tichhia a ni.

Cystinosis natna lan chhuahna chu engte nge ni?

Natna intan kum leh a hriat chhuah dan azirin a natna lan chhuah dan leh a nasat dan a inang lo.

Nephropathic cystinosis (infantile form) symptoms hi thla 6 leh 18 inkarah a lang tan tlangpui , chu chu kal a chhiat hunah a ni. Hengte hi a lan chhuah dan berte chu an ni:

• Tuihal lutuk (polydipsia).
• Zun tam lutuk (polyuria).
• Taksa chhunga electrolyte inthlauhna .
• Luak chhuak.
• Tui tlakchhamna (dehydration).
• Khawsik.

A lan chhuah dan dangte chu:

• Ruh chak lo, rickets.
• Hlawhtlin lohna .
• Mit mitmeng (cornea) a hliam emaw, a hring emaw a awm.
• Eng laka hriatna (photophobia).
• Mitdelna a awm.
• Chaw ei harsa (dysphagia).

Intermediate cystinosis (juvenile form) symptoms hi nausen form nen a inang tlangpui. Mahse, naupan lai emaw, tleirawl lai emaw a\angin an lo lang \an \hin. Tin, a natna lan chhuah dan pawh a na lo zawk thei bawk. Hetiang form-a symptom dang hmuh theihte chu:

• Chauhna, hahna.
• Muscle chak lohna .
• Taksa natna `(myopathy)` (myopathy) tih a ni.
• A sei zawng tawi.
• Puberty hun sawn hlat.
• Nau pai theih lohna.

Ocular cystinosis (non-nephropathic cystinosis) hian mit mit (cornea) chauh a nghawng a ni. Photophobia hi a symptom awmchhun a ni tlangpui . Kidney nena inzawm symptoms a awm lo.

Cystinosis hi engte nge ni?

Hei hi CTNS an tih gene-a genetic mutations vang a ni.. He `(CTNS)` gene hian kan taksa chu `(cystinosin)` tih protein siam turin a hrilh a. `(Cystinosin)` hi a hmaa kan sawi tawh angin transporter protein a ni. Chu chu a hnathawh chu lysosomes atanga amino acid `(cystine)` lak chhuah a ni tihna a ni.

Chuvangin, `(CTNS)` gene-a mutation a awm chuan `(cystinosin)` protein-ah hian chhiatna a awm a ni. Tichuan, `(cystine)` chu lysosomes atangin a chhuak thei lo va, a pungkhawm tan ta a ni. Chu chu cyst te hian an siam a, taksa peng hrang hranga cell te an tichhia a ni.

Hei hi ``autosomal recessive pattern''-a rochun a ni tih hi hun rei tak atang khan sawi a ni tawh. Hei hian nu leh pa pahnih hi he mutated gene kengtu an ni tur a ni (symptoms an nei lo) . Nu leh pa pahnihin he mutated gene hi an rochun chauhvin naupang hian he natna hi a nei ang.

Engtin nge Cystinosis hi an hriat theih?

I doctor chuan i symptoms leh chhungkaw medical history te a zawt ang che. Chumi hnuah chuan taksa enfiahna a nei ang a, a natna hriat theihna turin test eng emaw zat a ti ang.

Hemi atan hian eng test nge tih a nih?

Doctor chuan heng test te hi a ti thei ang:

• Thisen test: I thisen sample lak a ni a, thisen var chhunga cystine awm zat enfiah a ni.
• Genetic testing: Geneticist chuan i CTNS gene-a mutation awm leh awm loh a enfiah ang.
• Urinalysis: Zun sample lak a, mineral, nutrient, salt leh amino acid tam lutuk a awm leh awm loh enfiah a ni.
• Mit enfiah: Mit lam doctor chuan microscope bik (slit lamp) hmangin i mitmeng (cornea)-a cystine crystal awmte chu a zawng ang.

I naupai a, i chhungkuaa mi tu emaw chuan cystinosis a vei a, nang leh i kawppui pahnih hi carrier in ni tih hmuhchhuah a nih chuan, i naute hian natna a vei em tih hriat nan prenatal test, amniocentesis ang chi te hi tih theih a ni Hei hian naute chhehvel amniotic fluid atanga cell sample lak a, cystine level enfiah a huam a ni.

Test dang ``chorionic villus sampling`` tih pawh hman theih a ni. Hei hian nausen chhunga cell awmte chu a test thin.

Cystinosis enkawlna tur engte nge ni?

Damdawi Cysteamine an tih chu

Cystinosis enkawlna ber chu damdawi cysteamine an tih hi a ni . Hei hi cystine tichhe thei thil a ni. Hei hian i cell-a cystine level a tihhniam tihna a ni.

He damdawi `(cysteamine)` hi tan hmasak a nih chuan kal chhiatna hi a tam zawkin control theih a ni a, a tlai thei bawk.. He damdawi hian kal thlak ngai tihkhawtlai a pui hle. Naupang thenkhat chuan kidney transplantation hi an puitlin thlengin an tikhawtlai thei a ni. Tin, he damdawi hian natna vei naupangte thanlenna a titha bawk.

`(Cysteamine)` hi chi hnih a awm a, chungte chu `(CystagonTM)` leh `(ProcysbiTM)` (hengte hi brand hming a ni). `(CystagonTM)` hi darkar ruk danah ei tur a ni. `(ProcysbiTM)` (kum 6 chunglam tan) hian coating bik a nei a, chuvangin darkar 12 danah ei theih a ni.

Damdawi hman thin `(cysteamine)` hian mit cornea-a `(cystine)` crystal awmte chu a tidam lo. Hei atan hian US Food and Drug Administration `(FDA)-in a pawmpui `(cysteamine)` eye drop chi hnih a awm a, chungte chu `(CystaranTM)` leh `(CystadropsTM)` te an ni. Heng drop te hi darkar khatah vawi khat vel i harh laiin hnawih tur a ni. Cornea-a crystal awmte chu an tithianghlim a, êng laka sensitivity an tihziaawm bawk.

Enkawlna dang

Naupang cystinosis vei te hian enkawlna dang an mamawh thei a, chu chu an natna lan chhuah dan azirin a ni. Fanconi syndrome enkawlna hrang hrangte chu:

• Tui leh electrolyte (taksa atanga tui hloh lutuk tur ven nan) tam tak in thin ang che.
• Taksa chi balance vawng reng tura damdawi.
• Kidney-in phosphate a lakluh dan dik lo siamthatna tur damdawi.

Cystinosis enkawlna dangte chu:

• Growth hormone hmanga enkawl a ni.
• Insulin-dependent diabetes i neih chuan insulin i mamawh a ni.
• Testosterone hi mipa hypogonadism nei tan a ni.
• Thusawi leh tawng hmanga enkawlna.
• Genetic counseling pek a ni.

Naupang thenkhat ei harsatna nei te chu tube (gastronomy tube) hmanga chaw pek a ngai mai thei. He tube hi ei leh in tha tak pekna atan leh damdawi pekna atan hman a ni.

Mit chauh khawih thei Ocular cystinosis hi a hnuaia mi ang hian enkawl theih a ni bawk.

• Eng êng tak pumpelh.
• Sunglass vuah a ni.
• Mit a hnim reng.
• A tlem hle a, mit (corneal transplant) hi a ngai mai thei.

Kidney thlak a ni

A hmaa hmuhchhuah leh enkawl a nih pawhin nephropathic leh intermediate cystinosis vei te hian a tawpah chuan an kal (kidney failure) an nei thin. A tirah chuan i doctor chuan kidney failure chu dialysis hmangin a enkawl thei a. Dialysis hi machine a ni a, i kal (kidney) hnathawh thenkhat chu a la vek a ni. I thisen atanga bawlhhlawh a filter a, i taksaa chemical thenkhat awm zat dik tak a awm theih nan a pui bawk. Mahse, kal chak lohna chu tihdanglam theih a ni lo va, a tâwpah chuan kal thlak a ngai ta a ni .

Cystinosis vei tan chuan kal transplant hi a hlawhtling hle. Kidney donated hian cystine a khawlkhawm lo . Mahse, cystine hi i taksa peng dang ah a la awm khawm thei tho. Chuvangin, i dam chhung zawng damdawi i ei a ngai dawn a ni .

Enkawlna hian side effect a nei em?

Damdawi `(cysteamine)` hi a rimchhia deuh a, a thlum pawh a nuam lo hle . Chuvangin, mi thenkhat chuan he damdawi hi an ei hian luak chhuak, luak chhuak leh lungphun an nei thei a ni. `(cysteamine)` hian pum acid tam lutuk a siam thei bawk. Mi thenkhat chuan pum acid tihtlem nan `(proton pump inhibitors)` ang chi damdawi an ei thin. Hei hian an chaw kawng (gastrointestinal symptoms) a tihziaawm thei a ni. `(cysteamine)` hian rimchhia `(halitosis)` leh rimchhia a thlen thei bawk.

Cystinosis hi ven theih a ni em?

Cystinosis hi genetic condition a nih avangin ven theih a ni lo . Naupai emaw, naupai tum emaw i nih chuan i naute chu natna kai theihna a hlauhawm em tih hriat nan genetic test neih i ngaihtuah mai thei.

Cystinosis vei tan chuan eng nge a hmalam hun? / Eng chen nge an dam theih ang?

Hun khat chu nephropathic cystinosis natna hi naupang tê tête thihna thlentu a ni. Mahse tûn laiah chuan, damdawi cysteamine siam chhuah leh kal thlak danglamna a lo ṭhan chhoh tak avangin, cystinosis vei dam rei zawng chu puitlin thlengin a tizau ta a ni Mi thenkhat chu kum 50 aia upa thlengin an dam thin.

Cystinosis hi hriat hmasak a pawimawh. Inenkawlna mumal tak a awm chuan natna hi a thunun theih a ni. Enkawl loh chuan naupang cystinosis vei te hian kum 10 an tlin meuh chuan kal (kidney failure) an nei ang a, enkawl a nih pawhin naupang tam tak chuan an naupan lai emaw, an tleirawl lai emaw hian kal (kidney failure) an nei ang. Hei hian dialysis a ngai dawn a, a tawpah chuan kidney transplant a ngai dawn a ni.

Cysteamine i ei chuan dam chhung atan i ei chhunzawm zel a ngai a ni . Research atanga a lan dan chuan cystinosis natna tlai tak tak, kal nena inzawm lo tam tak a veng thei a ni.

A tawp berah chuan thil hriat reng tur

Cystinosis hi genetic condition a ni a, symptom hrang hrang a thlen thei a ni. A hmaa hmuhchhuah a nih a, enkawl vat a nih chuan natna zual zel chu a tam zawkah chuan thunun theih a ni . Tûn hmaa naupang tê tê tân thihna thlentu, tunah chuan he natna hi damdawi hmanga enkawl theih a ni tawh. Damdawi ei pawhin cystinosis vei te hian a tawpah chuan kal (kidney failure) an nei a, kal thlak (kidney transplant) an ngai thin. Mahse, tunah chuan he natna vei te hi puitling thlengin an dam tha hle.

Nangmah emaw, i hriat miin emaw heng symptoms te hi an neih chuan damdawi lam pan vat a pawimawh hle.Lungngai suh, mahse hetiang thil hi mi zawng zawng tan fimkhur a tha.

` cystinosis, cystine, kal natna, thlah natna, Fanconi syndrome, cysteamine, kal natna, thlah natna, naupang hriselna