Ngaba uyayazi i-Alport Syndrome? Makhe sithethe ngayo!

Ngaba wakha waphawula ukuba kukho igazi elincinci kumchamo wakho? Okanye ngamanye amaxesha uziva ngathi ukuva kwakho kuphantsi kancinci, okanye umbono wakho wahlukile kancinci? Ezi zizinto ngamanye amaxesha esingazinaki kangako kubomi bethu bemihla ngemihla. Nangona kunjalo, ngamanye amaxesha emva kwezi mpawu zincinci kunokubakho imeko efuna ingqalelo ethile, njenge -Alport Syndrome . Ngoko ke namhlanje siza kuthetha ngale nto ngendlela elula onokuyiqonda.

Yintoni i-Alport Syndrome?

Ngamafutshane, i-Alport syndrome yimeko yemfuza apho izintso zakho zingakwazi ukuvelisa iiproteni ze-collagen zohlobo lwe-IV ngokuqhelekileyo.

Cinga ngayo, le "Type IV collagen" yenziwe ngamatyathanga amathathu e-collagen (iityathanga ze-alpha) ezijijeke ndawonye njengentambo. La matyathanga abizwa ngokuba yi-alpha 3, i-alpha 4, kunye ne-alpha 5. Ngoku, ukuba umzimba wakho awuvelisi naliphi na kula matyathanga, amanye amabini awakwazi ukudibana. Kulapho ke kuvela khona iimpawu ezinzima kakhulu ze-Alport syndrome.

Ngamanye amaxesha, zonke ezi ntambo ziyakhiwa emzimbeni wakho, kodwa ukuba enye yazo ayibumbeki kakuhle, ngamanye amaxesha intambo azikwazi ukudibana, okanye nokuba ziyadibana, azisebenzi kakuhle. Kwezi meko, iimpawu zinokuncipha kancinci.

Le protein, ebizwa ngokuba yi-"Type IV collagen", ibaluleke kakhulu ekuhluzeni ii-membranes kwizintso zakho, "ii-glomerular basement membranes okanye i-GBM". Le `(GBM)'' yiyo ehluza igazi lakho, yahlula iityhefu nezinye izinto ezingafunwa ngumzimba kwaye inceda ekwenzeni umchamo. Ikwanceda ukugcina izinto ezifana neeseli zegazi kunye neeproteni egazini endaweni yokungena kumchamo.

Ngoku, xa le `(GBM)` ingasebenzi kakuhle, igazi okanye iproteni inokuvuza kumchamo wakho. Ngokuhamba kwexesha, amandla ezintso zakho okucoca umchamo nawo ayancipha. Oku kwandisa umngcipheko wokungasebenzi kakuhle kwezintso.

Kodwa oku akuchaphazeli izintso kuphela. Le "Collagen yohlobo lwe-IV" ikwafumaneka ezindlebeni nasemehlweni akho. Ngoko ke, ukongeza kwiingxaki zezintso, umntu one-Alport syndrome unokuba neengxaki zokubona nokuva.

Sizuza njani oku njengelifa?

Kukho iintlobo ezintathu eziphambili ze-Alport syndrome. Makhe sijonge ukuba zeziphi.

I-X-linked Alport syndrome (XLAS)

Oku kunxulumene ne-chromosome yakho ye-X. I-chromosome ye-X yenye yee-chromosomes zakho zesini ezimbini (u-X no-Y). Iqulethe i-gene eyenza i-alpha 5 chain `(COL4A5)`.

Ngoku, khangela, indoda ine-chromosome enye ye-X kunye ne-chromosome enye ye-Y. Ibhinqa line-chromosome ezimbini ze-X. Ngenxa yokuba amadoda ane-chromosome enye ye-X enesiphene, kunokwenzeka ukuba abe neempawu eziqatha. Ngenxa yokuba amabhinqa ane-chromosome enye ye-X enesiphene kunye ne-chromosome enye ye-X ephilileyo, iimpawu zawo zihlala zincinci.

Indoda idlulisela i-chromosome yayo engu-Y koonyana bayo. Ngenxa yoko, abanakudlulisela i-`(XLAS)` koonyana babo. Nangona kunjalo, indoda idlulisela i-chromosome yayo engu-X kuzo zonke iintombi zayo. Ngenxa yoko, zonke iintombi zayo zinokuba ne-Alport syndrome.

Ibhinqa lidlulisela enye yeekromosomu zakhe ezimbini ze-X kumntwana walo, nokuba umntwana yinkwenkwe okanye yintombazana. Ngenxa yoko, linethuba elingama-50% lokudlulisela i-`(XLAS)` kuye nawuphi na umntwana.

Olu `(XLAS)` lolona hlobo luqhelekileyo lwe-Alport syndrome. Phakathi kwama-60% nama-80% abo bonke abaguli be-Alport syndrome balolu hlobo.

I-Autosomal recessive Alport syndrome (ARAS)

Igama elithi "Autosomal" libhekisa kwiimbini ezingama-23 ze-autosomal genes. Igama elithi "Autosomal recessive" libhekisa kwindlela yofuzo. Ukuba omnye umzali une-autosomal recessive character, akayi kubonisa zimpawu. Ukuze idluliselwe ebantwaneni babo, bobabini abazali kufuneka babe naloo mpawu. Nangona kunjalo, kuba bengenazo iimpawu, abazi nokuba banazo.

Kwi-Alport syndrome, ii-genes ezifaka iiproteni ze-alpha 3 (COL4A3) kunye ne-alpha 4 (COL4A4) zifumaneka kwi-chromosome 2. I-"Recessive" ithetha ukuba utshintsho kuzo zombini ii-genes zesibini se-gene luyafuneka ukuze isifo senzeke.

Ngoko ke, kwi-`(ARAS)`, kukho utshintsho kwiijini ezifaka iiproteni ze-alpha 3 okanye ze-alpha 4 kwi-chromosome 2. `(ARAS)` ayixhomekekanga kwisini, ngoko ke ilifa kunye nobunzima beempawu ziyafana kuye wonke umntu.

Ukuba une-`(ARAS)`, abantwana bakho banethuba elingama-50% lokudlulisela enye yezi gene zineempazamo. Oku akusoloko kubangela i-Alport syndrome. Nangona kunjalo, kukho ithuba elingama-25% lokudlulisela zombini ezi gene zineempazamo ebantwaneni bakho. Ukuba oku kuyenzeka, umntwana wakho uya kuba ne-`(ARAS)`.

(ARAS) imalunga ne-15% yezigulane ezine-Alport syndrome.

I-Autosomal dominant Alport syndrome (ADAS)

Igama elithi "Dominant" lithetha ukuba isifo sinokubangelwa kukuguquka kwejini enye kuphela kwiijini ezimbini. Kwi-ADAS, kukho ukuguqulwa kwenye yeejini ezifaka iproteni i-COL4A3 okanye i-COL4A4 kwi-chromosome 2.

I-ADAS ayixhomekekanga kwisini, ngoko ke ufuzo kunye nobukhali beempawu ziyafana kuye wonke umntu.

Ukuba une-ADAS, kukho amathuba angama-50% okuba abantwana bakho badlulisele esi sigulo sejini esinesiphene baze baphuhlise i-ADAS.

(ADAS) ibandakanya phakathi kwama-25% nama-35% ezigulane ezine-Alport syndrome.

Ichaphazela bani le nto? Ixhaphake kangakanani?

I-Alport syndrome inokuchaphazela nabani na. Yimeko ezuzwe njengelifa, nto leyo ethetha ukuba omnye okanye bobabini abazali bayidlulisela kumntwana wabo. Nangona kunjalo, malunga ne-15% yamatyala, inokukhula nokuba bobabini abazali abanayo i-gene eguquliweyo.

Oogqirha bacinga ukuba i-Alport syndrome yimeko engaqhelekanga.Abaphandi bathi bangaphantsi kwama-200,000 abantu eMelika abanaso. Ehlabathini lonke, ukuxhaphaka kumalunga nomntu omnye kwabangama-50,000 abazalwa bephila. Nangona kunjalo, njengoko abaphandi beqhubeka nokufunda oku, bafumana abantu abaneempawu ezimbalwa. Ngoko ke i-Alport syndrome isenokuba yinto eqhelekileyo kunokuba isaziwa ngoku.

I-Alport syndrome ibangela njani ukungasebenzi kakuhle kwezintso?

Ukuba une-Alport syndrome, ii-glomerular basement membranes endizikhankanyileyo ngaphambili azihluzi kakuhle. Ngoko ke igazi kunye neeproteni ziyavuza kumchamo. Akupheleli apho, kodwa neeseli ezikumacala omabini ezo membrane azifumani nkxaso ifanelekileyo. Emva koko ezo seli ziyacaphuka kwaye ziyavuvukala . Ezi seli zibizwa ngokuba zii-podocytes zenza i-GBM. Xa iiseli ezijikelezileyo zivuvukala, ezi podocytes zizama ukufaka i-collagen yohlobo lwe-IV engaphezulu kwi-GBM. Xa oko kusenzeka, i-GBM iyaqina kwaye ayilungelelani. Yile nto ibangela ukuba iiproteni zivuvuke kumchamo (proteinuria).

Ekuhambeni kwexesha, njengoko iiproteni ezininzi zingena emchameni, i-GBM iyaqina, kwaye izicubu zesilonda (i-fibrosis) zinokwakheka. Ngenxa yoko, izintso zakho ziqala ukulahlekelwa ngamandla azo okucoca igazi lakho. Oku kubizwa ngokuba sisifo sezintso esingapheliyo (CKD). Njengoko izicubu zesilonda ezininzi ziqokelelana, ukusebenza kwezintso kuya kuba mandundu, kwaye ekugqibeleni izintso ziyayeka ukusebenza (ukungasebenzi kakuhle kwezintso).

Ziziphi iimpawu eziphambili ze-Alport syndrome?

Iimpawu zinokwahluka ngokuxhomekeke kuhlobo onalo. Iimpawu eziphambili zezi:

• Igazi kumchamo ongenakulibona (i-microscopic hematuria).
• Ukubakho kweproteni kumchamo (i-proteinuria).
• Isifo sezintso esinganyangekiyo (CKD) okanye ukungasebenzi kakuhle kwezintso.
• Ukulahlekelwa kukuva.
• Iingxaki zamehlo.

Uphawu lokuqala lwe-Alport syndrome yi-microscopic hematuria. Oku kuthetha ukuba i-GBM yakho enesiphene ibangela ukuba iiseli ezibomvu zegazi zivuze kumchamo wakho. Oku akubonakali emehlweni, kodwa kunokubonwa kuphela phantsi kwe-microscope. Amadoda ane-XLAS kunye nabani na one-ARAS banokuba ne-microscopic hematuria kwasekuzalweni. Abafazi abaninzi abane-XLAS bahlakulela i-microscopic hematuria ngokuhamba kwexesha. Ayinguye wonke umntu one-ADAS ovelisa i-microscopic hematuria.

Isifo sezintso esinganyangekiyo (CKD) siqala xa ukusebenza kwezintso kuqala ukwehla. Abantu abaninzi ababonisi zimpawu zeCKD de izintso zabo zingasebenzi.

Iimpawu zokungasebenzi kakuhle kwezintso:

• Ukudumba (ukudumba), ingakumbi ezijikeleze izandla okanye amaqatha.
• Ukudinwa kakhulu.
• Isicaphucaphu nokuhlanza.
• Ukuqaqamba kwemisipha.

Ukulahlekelwa kukuva kuxhaphake kakhulu kumadoda ane-XLAS kunye ne-ARAS. Kodwa kunokwenzeka nakubani na one-Alport syndrome. Ukulahlekelwa kukuva kwenzeka kancinci kancinci. Abantu abaninzi abayiqapheli loo nto de kube sebusuku kakhulu. Abantu abaninzi banobunzima bokuva izandi eziphezulu, kwaye abanye banokuphelelwa kukuva konke ekugqibeleni. Ekugqibeleni usenokufuna ukusebenzisa izixhobo zokuva. Kwiimeko ezinzima, usenokulahlekelwa kukuva kwakho ngokupheleleyo (ukungeva).

Kukwakho neengxaki ezahlukeneyo ngamehlo. Abanye abantu banamathuba amaninzi okuba nemivumbo ye-cornea, ethatha ixesha elide ukuphola. Oku kunokubangela amehlo anamanzi kunye nentlungu, kodwa ngokuqhelekileyo akubangeli ukulahleka kokubona. Abanye abantu baneengxaki ngenxalenye ecacileyo yeliso, ilensi, enceda ekugxileni umbono, kwaye ekugqibeleni banokufumana i-cataracts.

Ukuba une-Alport syndrome kwaye uneengxaki zokuva okanye ukubona, bonana nogqirha ngokukhawuleza.

Yintoni ebangela i-Alport syndrome?

Ngamafutshane, oku kubangelwa kukuguquka kwezakhi zofuzo ze-collagen.

Ingaba oku kuyasulela?

Hayi, i-Alport syndrome ayisosifo esosulelayo. Ayidluliselwa ukusuka komnye umntu ukuya komnye ngokusondelana. Yimeko ezuzwe njengelifa.

Uyibona njani le nto?

Ukuba unesifo segazi esincinci okanye isifo sezintso esinganyangekiyo, ugqirha unokurhanela ukuba une-Alport syndrome. Ukuba kukho umntu kusapho lwakho one-Alport syndrome, uvavanyo lunokuyifumanisa. Ukuba akukho mntu kusapho lwakho onaso, ugqirha unokukuxilonga ngokusekelwe kwimbali yakho yezonyango kunye novavanyo olongezelelweyo.

Ugqirha uza kuhlola iimpawu zakho aze akubuze ngembali yempilo yosapho lwakho. Uvavanyo olwahlukeneyo lunokunceda ekuxilongeni oku. Olu vavanyo luquka:

• Uhlalutyo lomchamo: Oku kuvavanya inkangeleko, ikhemikhali, kunye neempawu ezincinci zomchamo wakho. Kunokufumanisa ukuba kukho igazi okanye iproteni emchameni.
• Uvavanyo lwe-creatinine clearance okanye uvavanyo lwegazi lwe-cystatin C: Olu vavanyo lulinganisa amanqanaba e-creatinine kunye ne-cystatin C, imveliso engcolileyo, egazini lakho. Oku kunokubonisa indlela izintso zakho ezihluza ngayo igazi lakho.
• Izinga lokuhluza eliqikelelweyo le-glomerular (eGFR): Eli lixabiso elibalwa ngugqirha kwi-creatinine okanye kwi-cystatin C. Liqikelela ukuba izintso zakho zihlambulula igazi lakho kakuhle kangakanani.
• I-biopsy yezintso: Ugqirha uthatha iziqwenga ezimbalwa ezincinci zezicubu zezintso zakho aze azihlole phantsi kwe-microscope kwilebhu. Ezi sampuli zibonisa iipatheni ezahlukeneyo ezichaphazela izintso zakho. Kwi-Alport syndrome, ii-GBM ezineempazamo zibonakala zincinci, kodwa kunokubakho neendawo ezityebileyo. Ukuba isifo sibi kakhulu, sinokubonisa amanxeba kwiiyunithi zokucoca kunye nezakhiwo ezixhasayo.
• Uvavanyo lwemfuza: Oku kunokuchonga utshintsho kwiijini zakho ze-collagen. Oku kuya kufuna utyelelo kwikliniki ekhethekileyo yemfuza. Ugqirha uya kwenza oku ngovavanyo lwegazi okanye isampuli yamathe.
• Uvavanyo lokuva (audiogram): Ukuba ugqirha urhanela ukuba i-Alport syndrome, angayalela uvavanyo lokuva. Nabani na onesifo se-Alport syndrome kufuneka enze olu vavanyo. Olu vavanyo kufuneka lwenziwe rhoqo emva kweminyaka embalwa ukuze kubonwe ukuba ukulahlekelwa kukuva kuyehla okanye kuya kuba mandundu.
• Uvavanyo lwamehlo: Olu vavanyo kufuneka lwenziwe yingcali yamehlo egxile ekuxilongeni nasekunyangeni izifo zamehlo. Baza kuhlola umbono wakho baze bajonge umphezulu weliso lakho (i-cornea), ilensi, kunye nomva weliso lakho (i-retina) ukuze babone ukuba i-Alport syndrome ayichaphazelekanga na umbono wakho. Banokwenza uvavanyo lwemifanekiso olubizwa ngokuba yi-optical coherence tomography (OCT).

Ngaba i-Alport syndrome inganyangeka? Zithini iindlela zonyango?

Akukho nyango lwe-Alport syndrome. Abaphandi basebenza kunyango lwe-gene olulungisa ii-genes ezineengxaki, kodwa azikaphumeleli. Nokuba unyango lwe-gene oluphumelelayo luphuhlisiwe, kuya kuthatha iminyaka ngaphambi kokuba sibe nalo. Nangona kunjalo, kukho unyango olunokuthi lucothise ukwehla kokusebenza kwezintso kwaye lulibazise ukungasebenzi kakuhle kwezintso.

Ugqirha angakunika izinto ezifana nezi:

• Izithinteli ze-enzyme eziguqula i-Angiotensin (ACE): Ezi zinciphisa uxinzelelo lwegazi, zinciphisa iiproteni kumchamo wakho, kwaye zinceda ekukhuseleni izintso zakho. Amadoda ane-(XLAS) kunye nabani na one-(ARAS) kufuneka aqale ukuthatha izithinteli ze-ACE emva kokuba exilongiwe. Abafazi abane-(XLAS) okanye (ADAS) kufuneka baqale ukuthatha izithinteli ze-ACE kwangoko nje ukuba baqale ukubona iiproteni kumchamo wabo, okanye ngexesha lokuxilongwa.
• Ii-Angiotensin II receptor blockers (ARBs): Ii-ARB zifana nee-ACE inhibitors kwaye zinezibonelelo ezifanayo.
• Izithinteli ze-Sodium-glucose transported type 2 (SGLT-2): Ukuba une-CKD okanye i-Alport syndrome, izithinteli ze-SGLT-2 zinokukunceda ukunciphisa umngcipheko wokungasebenzi kakuhle kwezintso. Ugqirha wakho unokongeza ezi kwi-ACE inhibitor yakho okanye kwi-ARB. Ayizizo zonke izithinteli ze-SGLT-2 ezivunyiweyo ukunyanga i-CKD. Ugqirha wakho usenokungakuniki ezi ukuba i-eGFR yakho iphantsi kakhulu.
• Ukutya okulawulwa yiSodium: Ukunciphisa ubungakanani betyuwa kunye nesodium ekutyeni kwakho kunokunceda ukunciphisa uxinzelelo lwegazi kunye nokugcina impilo yezintso kunye nentliziyo.

Ngaba ukufakelwa kwezintso kungayinyanga i-Alport syndrome?

Ewe kwaye hayi. Ngokufakelwa izintso, ufumana izintso ezine-"Type IV collagen" eqhelekileyo kunye ne-filtration membranes. Ke ngoko, i-Alport syndrome ayizukubuyela kwizintso ezintsha.

Nangona kunjalo, ukufakelwa izintso akuyi kunceda kwezinye iimpawu, ezinje ngokulahlekelwa kukuva neengxaki zamehlo.

Singakuthintela njani oku?

I-Alport syndrome ayinakuthintelwa. Nangona kunjalo, ukwazi imbali yosapho lwakho kunokukunceda uyichonge kwangethuba. Inokukunceda nokuba abantwana bakho bangayidluliseli kwabanye.

Ukuchongwa kwangoko kwe-Alport syndrome kunye nokuqaliswa konyango ngee-ACE inhibitors/ARBs kunye nee-SGLT-2 inhibitors yeyona ndlela ilungileyo yokulibazisa ukungasebenzi kakuhle kwezintso.

Ukuba ugqirha uthi unegazi kumchamo wakho, kungangcono ukuba ufumane uvavanyo olongezelelweyo lwe-Alport syndrome, ingakumbi ukuba uneengxaki zokuva okanye ukusebenza kwezintso okungasebenzi kakuhle.

Ukuba kukho umntu kusapho lwakho onembali yegazi kumchamo (hematuria), ugqirha kufuneka ahlole umchamo wakho ukuba unegazi na aze enze uvavanyo lwegazi ukujonga ukusebenza kwezintso zakho.

Liza kuba njani ixesha lam lobomi ukuba ndine-Alport syndrome?

Amadoda ane-`(XLAS)` kunye nabani na one-`(ARAS)` ahlala efumana ukungasebenzi kwezintso kunye nokulahlekelwa kukuva ngaphambi kokuba afikelele kwiminyaka engama-30.

Abafazi abane-XLAS badla ngokuba nobomi obuqhelekileyo. Usenokuba ne-microscopic hematuria, i-proteinuria, i-CKD, okanye ukusilela kwezintso kunye nokulahlekelwa kukuva. Wonke umntu usabela ngokwahlukileyo. Kodwa i-16% yabasetyhini baya kuba nokusilela kwezintso xa beneminyaka engama-60 ubudala, kwaye ama-20% aya kuba nokusilela kwezintso xa beneminyaka engama-80 ubudala.

Abantu abane-`(ADAS)` banokuba neempendulo ezahlukeneyo, kwaye banokuba nobomi obuqhelekileyo. Ukulahlekelwa kukuva kunye nokungasebenzi kakuhle kwezintso azixhaphakanga kakhulu kwi-`(ADAS)`.

Isifo sezintso esinganyangekiyo (CKD) kunye nokusilela kwezintso kudla ngokufinyeza ubomi babantu abane-Alport syndrome. I-CKD inyusa umngcipheko wokufa ngenxa yesifo sentliziyo kunye nokubetha. Ukusilela kwezintso kuyabulala ngaphandle kokwenza i-dialysis okanye ukufakelwa kwezintso. Nokuba unyango lukhona, ukusilela kwezintso kwandisa umngcipheko wokufa ngenxa yesifo sentliziyo, i-stroke, kunye nosulelo. Kuxhomekeke ekubeni izintso ezifakelweyo zisebenza kakuhle kangakanani, ukufakelwa kwezintso kunokukunceda uphile ubomi obuqhelekileyo.

Ndingazinyamekela njani?

Ukuba une-Alport syndrome, ugqirha uya kukunceda uphuhlise isicwangciso sonyango esifanelekileyo. Oku kungabandakanya amayeza kunye notshintsho kwindlela yokuphila.

Unyango lwezonyango

• Thatha ii-ACE inhibitors, ii-ARB, okanye ii-SGLT-2 inhibitors njengoko ugqirha wakho ekuyalele.
• Kuphephe ukusebenzisa amayeza okudambisa iintlungu (amayeza angengo-steroidal alwa nokuvuvukala - ii-NSAID). La mayeza anokukhawulezisa ukungasebenzi kakuhle kwezintso ukuba unesifo sezintso esingaqhelekanga okanye i-Alport syndrome.
• Jonga ukuva kwakho.Ukuba unengxaki enkulu yokuva kwaye ugqirha wakho ucebisa izixhobo zokuncedisa ukuva, licebo elihle ukuzisebenzisa. Kungenjalo, unokufumana kunzima ukunxibelelana nabanye, okukwenza uzive unesizungu kwaye uzimele. Ezi mvakalelo zokuzihlukanisa zingakhokelela kuxinzelelo. Izixhobo zokuncedisa ukuva zingaphucula ubudlelwane bakho nabo bakungqongileyo, ziphucule indlela ovakalelwa ngayo, kwaye zikuncede ukulawula okanye ukuthintela uxinzelelo.
• Nyamekela impilo yakho yengqondo. Ukuba nesifo semfuza kunokuba ngumvandedwa, kwaye ukufunda ukuba i-Alport syndrome inokubangela ukungasebenzi kakuhle kwezintso okanye ukulahleka kokuva kunokunyusa umngcipheko wakho wokudakumba. Kubalulekile ukuthetha nogqirha wakho malunga nazo naziphi na iingxaki zempilo yengqondo onazo kwaye ufumane unyango olufunayo. Buza ugqirha wakho ukuba kukho amaqela enkxaso kubantu abane-Alport syndrome. Ukudibana nabantu abanjalo kunokukunceda uzive ungedwa.

Utshintsho kwindlela yokuphila

• Nciphisa ubungakanani betyuwa ekutyeni kwakho.
• Ukuba une-CKD, kunokufuneka ulandele ukutya okukhethekileyo. Oku kungabandakanya ukunciphisa ukutya kwakho iproteni yezilwanyana, ukutshintshela ekutyeni okusekwe kwizityalo, ukuphepha ukutya okune-potassium eninzi ukuba unamaqondo aphezulu e-potassium egazini, kunye nokunciphisa ukutya iproteni yakho ukuba unamaqondo aphezulu e-phosphorus egazini okanye i-parathyroid hormone (PTH).
• Ukulandela indlela yokuphila enempilo yentliziyo kunokunceda ukunciphisa umngcipheko wesifo sentliziyo, isifo seswekile, kunye nezinye iimeko ezinokubangela ukungasebenzi kakuhle kwezintso. Ukuzilolonga okufana nokuhamba ngokukhawuleza, ukubaleka, ukudada, ukukhwela ibhayisekile, kunye nokutsiba ngentambo kulungile. Kukwalungile nokugcina ubunzima obusempilweni obufanelekileyo kuwe.
• Kuphephe ukutshaya nezinye iimveliso zecuba. Bona ugqirha ukuba ufuna uncedo lokuyeka ukutshaya.

Ndifanele ndimbone nini ugqirha?

Bona ugqirha ukuba unegazi kumchamo wakho, ulahlekelwe kukuva, okanye ulahlekelwe kukubona. Ezi zinokuba ziimpawu ze-Alport syndrome.

Ukuba une-Alport syndrome, qiniseka ukuba ugqirha wakho ukuthumele kwingcali yezintso (i-nephrologist).

Ukuba kukho umntu kusapho lwakho one-Alport syndrome, bonana nogqirha ukuze ubone ukuba nawe unayo.

Ndingayibuza yiphi imibuzo ugqirha wam?

Ukuba ucinga ukuba usenokuba ne-Alport syndrome, okanye ukuba kukho umntu kusapho lwakho one-Alport syndrome, buza ugqirha wakho le mibuzo:

• Ngaba uyazi ukuba ungayibona njani i-Alport syndrome?
• Ungandithumela kwingcali eyaziyo indlela yokuxilonga i-Alport syndrome?
• Ingaba kukho igazi kumchamo wam?
• Ingaba ukusebenza kwezintso zam kuyehla?
• Ngaba kufuneka ndivavanywe ukuva okanye amehlo?
• Ngaba kufuneka ndibe ne-biopsy yezintso?
• Ngaba kufuneka ndifumane uvavanyo lwemfuza?

Ukuba une-Alport syndrome, buza ugqirha wakho le mibuzo:

• Uyazi njani ukuba ndine-Alport syndrome?
• Ndingathunyelwa nini kwingcali yezintso (i-nephrologist) eyaziyo nge-Alport syndrome?
• Luhlobo luni lwe-Alport syndrome endinalo?
• Ngaba ndiza kuyidlulisela kubantwana bam i-Alport syndrome?
• Yintoni i-`(GFR)` yam?
• Ingakanani iproteni ekwimchamo wam?
• Uqala nini ukusebenzisa i-`(ACE inhibitor)` okanye `(ARB)`?
• Ngaba ndiza kuzuza kwi-SGLT-2 inhibitor?
• Ngawaphi amanye amayeza owacebisayo?
• Ndifanele ndicwangcise kangaphi amaxesha okujonga impilo yezintso zam?
• Ndifanele ndihlolwe kangaphi ukuva kwam?
• Ngaba kufuneka ndidibane nogqirha wamehlo ukuze andihlole amehlo?
• Ngaba ungacebisa amaqela enkxaso kubantu abane-Alport syndrome?

I-Alport syndrome yimeko eyonakalisa imithambo yegazi kwizintso zakho. Utshintsho kwizakhi zofuzo zakho luchaphazela indlela ezisebenza ngayo izintso zakho, kwaye lunokuchaphazela nokuva kwakho kunye nokubona kwakho.

Usenokuba neemvakalelo ezahlukeneyo njengoko uqhelana nolu xilongo kunye nendlela i-Alport syndrome echaphazela ngayo ubomi bakho. Kubalulekile ukuzinika ixesha kunye nendawo yokuqonda imeko yakho kunye neendlela zonyango. Ukwazi iindlela onokukhetha kuzo kunye noko ungakulindela kunokukunceda ulawule iimvakalelo zakho. Nguwe owenza izigqibo zokugqibela malunga nempilo yakho, kwaye ugqirha wakho ukhona ukukunika ulwazi kunye nesikhokelo. Ukuba unemibuzo, ufuna inkxaso, okanye ufuna ingcebiso, thetha naye.

Umyalezo obalulekileyo onokuwuthatha ekhaya

Nangona i-Alport syndrome iyinto enzima, eyenzeka ubomi bonke, ukufunyaniswa kwangoko kunye nolawulo olufanelekileyo kunokunceda abantu baphile ubomi obuqhelekileyo.

Ukuba kukho umntu kusapho lwakho onale mpawu (ingakumbi igazi kumchamo, ukulahlekelwa kukuva), okanye ukuba uzifumanisa ngokwakho, akukabi lixesha lokufuna ingcebiso kagqirha. Ngovavanyo olufanelekileyo kunye nonyango, unganciphisa umonakalo wezintso kwaye ugcine umgangatho wobomi bakho. Khumbula, awuwedwa, kwaye oogqirha kunye nabantu obathandayo bakhona ukukunceda.

I- Alport syndrome, isifo sezintso, izifo zemfuza, i-collagen, igazi kumchamo, ukulahleka kokuva, izifo zamehlo