Uyazazi i-Alport Syndrome? Ake sixoxe ngayo!

Wake waphawula ukuthi kunegazi elincane emchameni wakho? Noma ngezinye izikhathi uzizwa sengathi ukuzwa kwakho kuphansi kancane, noma ukubona kwakho kuhlukile kancane? Lezi yizinto ngezinye izikhathi esingazinaki kakhulu ekuphileni kwethu kwansuku zonke. Kodwa-ke, ngezinye izikhathi ngemuva kwalezi zimpawu ezincane kungase kube nesimo esidinga ukunakwa, njenge- Alport Syndrome . Ngakho-ke namuhla sizokhuluma ngalokhu ngendlela elula ongayiqonda.

Iyini i-Alport Syndrome?

Kalula nje, i-Alport syndrome yisimo sofuzo lapho izinso zakho zingakwazi ukukhiqiza amaprotheni e-collagen ohlobo lwe-IV ngendlela evamile.

Cabanga ngakho, le "Collagen yohlobo lwe-IV" yakhiwe ngamaketanga amathathu e-collagen (amaketanga e-alpha) asontekile ndawonye njengentambo. La maketanga abizwa ngokuthi i-alpha 3, i-alpha 4, kanye ne-alpha 5. Manje, uma umzimba wakho ungakhiqizi noma yiliphi lala maketanga, amanye amabili awakwazi ukuhlangana. Yilapho kuvela khona izimpawu ezimbi kakhulu ze-Alport syndrome.

Ngezinye izikhathi, zonke lezi zibopho zakhiwa emzimbeni wakho, kodwa uma enye yazo ingakhiwa kahle, ngezinye izikhathi izibopho azikwazi ukuhlangana, noma noma zihlangana, azisebenzi kahle. Kulezi zimo, izimpawu zingase zinciphe kancane.

Le phrotheni, ebizwa ngokuthi ``i-Type IV collagen'', ibaluleke kakhulu ekuhlungeni ulwelwesi ezinso zakho, ``i-glomerular basement membranes noma i-GBM''. Le ``(GBM)'' yiyo ehlunga igazi lakho, ihlukanise ubuthi nezinye izinto umzimba ongazidingi futhi isize ekwenzeni umchamo. Iphinde isize ukugcina izinto ezifana namaseli egazi namaprotheni egazini esikhundleni sokungena emchameni.

Manje, uma lokhu `(GBM)` kungasebenzi kahle, igazi noma iphrotheni kungavuza emchameni wakho. Ngokuhamba kwesikhathi, ikhono lezinso zakho lokuhlunga umchamo nalo liyancipha. Lokhu kwandisa ingozi yokwehluleka kwezinso.

Kodwa lokhu akugcini nje ngokuthinta izinso. Le "collagen yohlobo lwe-IV" itholakala nasezindlebeni nasemahlweni akho. Ngakho-ke, ngaphezu kwezinkinga zezinso, umuntu one-Alport syndrome angaba nezinkinga zokubona nokuzwa.

Sizuza kanjani lokhu njengefa?

Kunezinhlobo ezintathu eziyinhloko ze-Alport syndrome. Ake sibheke ukuthi ziyini.

I-X-linked Alport syndrome (XLAS)

Lokhu kuhlobene ne-chromosome yakho ye-X. I-chromosome ye-X ingenye yama-chromosome akho amabili ocansi (u-X no-Y). Iqukethe i-gene eyenza uchungechunge lwe-alpha 5 `(COL4A5)`.

Manje, bheka, owesilisa une-chromosome eyodwa engu-X kanye ne-chromosome eyodwa engu-Y. Owesifazane unama-chromosome amabili angu-X. Ngenxa yokuthi abesilisa bane-chromosome eyodwa engu-X enephutha, banamathuba amaningi okuba nezimpawu ezimbi kakhulu. Ngenxa yokuthi abesifazane bane-chromosome eyodwa engu-X enephutha kanye ne-chromosome eyodwa engu-X enempilo, izimpawu zabo zivame ukuba zincane.

Indoda idlulisela i-chromosome yayo engu-Y emadodaneni ayo. Ngakho-ke, abakwazi ukudlulisela i-`(XLAS)` emadodaneni abo. Kodwa-ke, indoda idlulisela i-chromosome yayo engu-X kuwo wonke amadodakazi ayo. Ngakho-ke, wonke amadodakazi ayo angaba ne-Alport syndrome.

Owesifazane udlulisela enye yama-chromosome akhe amabili e-X enganeni yakhe, kungakhathaliseki ukuthi ingane ingumfana noma intombazane. Ngakho-ke, unethuba elingu-50% lokudlulisela i-`(XLAS)` kunoma yimuphi umntwana.

Lolu hlobo lwe-`(XLAS)` luwuhlobo oluvame kakhulu lwe-Alport syndrome. Phakathi kuka-60% no-80% wabo bonke abaguli be-Alport syndrome bangabalolu hlobo.

I-Autosomal recessive Alport syndrome (ARAS)

Igama elithi "Autosomal" libhekisela ezibhangqweni ezingu-23 zezakhi zofuzo ze-autosomal. Igama elithi "Autosomal recessive" libhekisela ephethini yefa. Uma umzali oyedwa enesici se-autosomal recessive, ngeke abonise izimpawu. Ukuze sidluliselwe ezinganeni zabo, bobabili abazali kumele babe nalesi sici. Kodwa-ke, ngoba abanazo izimpawu, abazi nokuthi banaso.

Ku-Alport syndrome, izakhi zofuzo ezifaka amaprotheni e-alpha 3 (COL4A3) kanye ne-alpha 4 (COL4A4) zitholakala ku-chromosome 2. I-"Recessive" isho ukuthi izinguquko kuzo zombili izakhi zofuzo zebhangqa lezakhi zofuzo ziyadingeka ukuze lesi sifo senzeke.

Ngakho-ke, ku-`(ARAS)`, kukhona ukuguquka kwezakhi zofuzo ezifaka amaprotheni e-alpha 3 noma e-alpha 4 ku-chromosome 2. `(ARAS)` akuxhomekile kubulili, ngakho-ke ufuzo kanye nobukhali bezimpawu kuyafana kuwo wonke umuntu.

Uma une-`(ARAS)`, izingane zakho zinethuba elingu-50% lokudlulisela elinye lala ma-gene anephutha. Lokhu ngokuvamile akubanga i-Alport syndrome. Kodwa-ke, kunethuba elingu-25% lokudlulisela womabili ama-gene anephutha ezinganeni zakho. Uma lokhu kwenzeka, ingane yakho izoba ne-`(ARAS)`.

(ARAS) ihlanganisa cishe u-15% weziguli ezine-Alport syndrome.

I-Autosomal dominant Alport syndrome (ADAS)

"Okunamandla" kusho ukuthi isifo singabangelwa ukuguquka kwezakhi zofuzo esisodwa kuphela ezizakhi zofuzo ezimbili. Ku-ADAS, kukhona ukuguquka kwenye yezakhi zofuzo ezifaka iphrotheni i-COL4A3 noma i-COL4A4 ku-chromosome 2.

I-ADAS ayixhomekile kubulili, ngakho-ke ufuzo kanye nobukhali bezimpawu kuyafana kuwo wonke umuntu.

Uma une-ADAS, kunethuba elingu-50% lokuthi izingane zakho zizodlulisela lesi sakhi sofuzo esingasebenzi kahle futhi zithuthukise i-ADAS.

(ADAS) ihlanganisa phakathi kuka-25% no-35% weziguli ezine-Alport syndrome.

Lokhu kuthinta bani? Kuvamile kangakanani?

I-Alport syndrome ingathinta noma ubani. Kuyisimo esizuzwe njengefa, okusho ukuthi oyedwa noma bobabili abazali basidlulisela enganeni yabo. Kodwa-ke, cishe ezimweni eziyi-15%, singakhula ngisho noma bobabili abazali bengenalo i-gene eguquliwe.

Odokotela bacabanga ukuthi i-Alport syndrome iyisimo esingavamile.Abacwaningi bathi bangaphansi kuka-200,000 abantu e-United States abanaso. Emhlabeni wonke, ukusabalala kwaso cishe kungumuntu oyedwa kwabangu-50,000 abazalwa bephila. Kodwa-ke, njengoba abacwaningi beqhubeka nokutadisha lokhu, bathola abantu abanezimpawu ezimbalwa. Ngakho-ke i-Alport syndrome ingase ivame kakhulu kunalokho okwaziwayo njengamanje.

I-Alport syndrome ibangela kanjani ukwehluleka kwezinso?

Uma une-Alport syndrome, ama-glomerular basement membranes engikhulume ngawo ekuqaleni awahlungi kahle. Ngakho igazi namaprotheni ayavuza emchameni. Akukhona lokho kuphela, kodwa namaseli asohlangothini ngalunye lwalawo ma-membrane awatholi ukwesekwa okufanele. Bese lawo maseli ayacasuka futhi avuvuke . Lawa maseli abizwa ngokuthi ama-podocytes enza i-GBM. Lapho amaseli azungezile evuvukala, lawa ma-podocytes azama ukufaka i-collagen yohlobo lwe-IV eningi ku-GBM. Uma lokho kwenzeka, i-GBM iyaqina futhi ingahleleki. Yilokhu okubangela ukuthi amaprotheni avuvuke emchameni (proteinuria).

Ngokuhamba kwesikhathi, njengoba amaprotheni amaningi edlula emchameni, i-GBM iyaqina, futhi izicubu zesibazi (i-fibrosis) zingakheka. Ngenxa yalokho, izinso zakho ziqala ukulahlekelwa amandla azo okuhlanza igazi lakho. Lokhu kubizwa ngokuthi isifo sezinso esingamahlalakhona (i-CKD). Njengoba izicubu zesibazi eziningi zanda, ukusebenza kwezinso kuya kuba kubi, futhi ekugcineni izinso ziyayeka ukusebenza (ukwehluleka kwezinso).

Yiziphi izimpawu eziyinhloko ze-Alport syndrome?

Izimpawu zingahluka kuye ngohlobo onalo. Izimpawu eziyinhloko yilezi:

• Igazi emchameni ongeke ulibone (i-microscopic hematuria).
• Ukuba khona kweprotheyini emchameni (i-proteinuria).
• Isifo sezinso esingamahlalakhona (CKD) noma ukwehluleka kwezinso.
• Ukulahlekelwa ukuzwa.
• Izinkinga zamehlo.

Uphawu lokuqala lwe-Alport syndrome yi-microscopic hematuria. Lokhu kusho ukuthi i-GBM yakho enesici ibangela ukuthi amangqamuzana abomvu egazi avuza emchameni wakho. Lokhu akubonakali ngeso lenyama, kodwa kungabonakala kuphela ngaphansi kwe-microscope. Abesilisa abane-XLAS nanoma ubani one-ARAS bangaba ne-microscopic hematuria kusukela ekuzalweni. Abesifazane abaningi abane-XLAS bahlakulela i-microscopic hematuria ngokuhamba kwesikhathi. Akubona bonke abane-ADAS abathuthukisa i-microscopic hematuria.

Isifo sezinso esingamahlalakhona (i-CKD) siqala lapho ukusebenza kwezinso kuqala ukwehla. Abantu abaningi ababonisi izimpawu ze-CKD kuze kube yilapho izinso zabo zingasasebenzi kahle.

Izimpawu zokwehluleka kwezinso:

• Ukuvuvukala (i-edema), ikakhulukazi eduze kwezandla noma amaqakala.
• Ukukhathala okukhulu.
• Isicanucanu nokuhlanza.
• Ukuqaqamba kwemisipha.

Ukulahlekelwa ukuzwa kuvame kakhulu kwabesilisa abane-XLAS ne-ARAS. Kodwa kungenzeka kunoma ubani one-Alport syndrome. Ukulahlekelwa ukuzwa kwenzeka kancane kancane. Abantu abaningi abakuboni kuze kube sekwephuzile. Abantu abaningi banenkinga yokuzwa imisindo ephezulu, kanti abanye bangagcina belahlekelwe ukuzwa konke. Ekugcineni kungadingeka usebenzise izinsiza zokuzwa. Ezimweni ezimbi kakhulu, ungase ulahlekelwe ukuzwa kwakho ngokuphelele (ubuthulu).

Kukhona nezinkinga ezahlukahlukene ngamehlo. Abanye abantu banamathuba amaningi okuba nemihuzuko ye-cornea, okuthatha isikhathi eside ukuphola. Lokhu kungabangela amehlo anamanzi nobuhlungu, kodwa ngokuvamile akubangeli ukulahlekelwa umbono. Abanye abantu banezinkinga ngengxenye ecacile yeso, ilensi, esiza ekugxiliseni umbono, futhi ekugcineni bangahlakulela i-cataract.

Uma une-Alport syndrome futhi unenkinga yokuzwa noma yokubona, bona udokotela ngokushesha.

Yini ebangela i-Alport syndrome?

Kalula nje, lokhu kubangelwa izinguquko ezakhiweni zakho ze-collagen.

Ingabe lokhu kuyathelelana?

Cha, i-Alport syndrome ayisona isifo esithelelanayo. Ayidluliselwa kusuka komunye umuntu iye komunye ngokuxhumana okuseduze. Yisimo esizuzwe njengefa.

Ukubona kanjani lokhu?

Uma unesifo se-hematuria esincane noma isifo sezinso esingamahlalakhona, udokotela angase asole i-Alport syndrome. Uma othile emndenini wakho ene-Alport syndrome, ukuhlolwa kungayithola. Uma kungekho muntu emndenini wakho onayo, udokotela angakuthola ngokusekelwe emlandweni wakho wezokwelapha kanye nokuhlolwa okwengeziwe.

Udokotela uzohlola izimpawu zakho bese ebuza ngomlando wezokwelapha womndeni wakho. Ukuhlolwa okuhlukahlukene kungasiza ekuxilongeni lokhu. Lokhu kuhlolwa kufaka phakathi:

• Ukuhlolwa komchamo: Lokhu kuhlola ukubukeka, amakhemikhali, kanye nezakhiwo ezincane zomchamo wakho. Kungabona ukuthi kukhona igazi noma iphrotheni emchameni.
• Ukuhlolwa kwe-Creatinine clearance noma ukuhlolwa kwegazi kwe-cystatin C: Lokhu kuhlolwa kulinganisa amazinga e-creatinine kanye ne-cystatin C, umkhiqizo ongcolile, egazini lakho. Lokhu kungabonisa ukuthi izinso zakho zihlunga kahle kangakanani igazi lakho.
• Izinga lokuhlunga le-glomerular elilinganiselwe (i-eGFR): Leli inani udokotela alibala kusukela ku-creatinine noma ku-cystatin C. Lilinganisa ukuthi izinso zakho zihlanza kahle kangakanani igazi lakho.
• Ukuhlolwa kwezinso: Udokotela uthatha izingcezu ezimbalwa ezincane kakhulu zezicubu zezinso zakho azihlole ngaphansi kwe-microscope elebhu. Lawa masampula abonisa amaphethini ahlukene athinta izinso zakho. Ku-Alport syndrome, ama-GBM anephutha abonakala emancane, kodwa kungase kube nezindawo zokujiya. Uma lesi sifo sibi kakhulu, singabonisa izibazi zamayunithi okuhlunga kanye nezakhiwo ezisekelayo.
• Ukuhlolwa kwezakhi zofuzo: Lokhu kungabona izinguquko ezakhiweni zakho zezakhi zofuzo ze-collagen. Lokhu kuzodinga ukuvakashela umtholampilo okhethekile wezakhi zofuzo. Udokotela uzokwenza lokhu ngokuhlolwa kwegazi noma isampula yamathe.
• Ukuhlolwa kokuzwa (audiogram): Uma udokotela esola i-Alport syndrome, angayala ukuhlolwa kokuzwa. Noma ubani onesifo i-Alport syndrome kufanele enze lokhu kuhlolwa. Lokhu kuhlolwa kufanele kwenziwe njalo eminyakeni embalwa ukuze kubonakale ukuthi ukulahlekelwa ukuzwa kuyehla noma kuya kuba kubi kakhulu.
• Ukuhlolwa kwamehlo: Lokhu kuhlolwa kufanele kwenziwe uchwepheshe wamehlo ochwepheshe ekuxilongeni nasekwelapheni izifo zamehlo. Bazohlola umbono wakho futhi babheke ubuso belihlo lakho (i-cornea), ilensi, kanye nengemuva leso lakho (i-retina) ukuze babone ukuthi i-Alport syndrome ithinte yini umbono wakho. Bangase futhi benze ukuhlolwa kwezithombe okubizwa ngokuthi i-optical coherence tomography (OCT).

Ingabe i-Alport syndrome ingelapheka? Yiziphi izindlela zokwelapha?

Akukho ukwelashwa kwe-Alport syndrome. Abacwaningi basebenza ekwelashweni kwezakhi zofuzo okulungisa izakhi zofuzo ezinephutha, kodwa azikaphumeleli. Ngisho noma ukwelashwa kwezakhi zofuzo okuphumelelayo kusungulwa, kuzothatha iminyaka ngaphambi kokuba sibe nakho. Kodwa-ke, kunezindlela zokwelapha ezinganciphisa ukwehla kokusebenza kwezinso futhi zilibazise ukwehluleka kwezinso.

Udokotela angase anikeze izinto ezifana nalezi:

• Ama-inhibitor e-Angiotensin-converting enzyme (ACE): Lawa anciphisa umfutho wegazi lakho, anciphise amaprotheni emchameni wakho, futhi asize ekuvikeleni izinso zakho. Amadoda ane-(XLAS) nanoma ubani one-(ARAS) kufanele aqale ukuthatha ama-inhibitor e-ACE ngemva kokuxilongwa. Abesifazane abane-(XLAS) noma (ADAS) kufanele baqale ukuthatha ama-inhibitor e-ACE ngokushesha nje lapho beqala ukubona amaprotheni emchameni wabo, noma ngesikhathi sokuxilongwa.
• Ama-Angiotensin II receptor blockers (ama-ARB): Ama-ARB afana nama-ACE inhibitors futhi anezinzuzo ezifanayo.
• Izithibi zohlobo 2 (SGLT-2) ezithuthwa yi-sodium-glucose: Uma une-CKD noma i-Alport syndrome, izithibi zohlobo lwe-SGLT-2 zingasiza ekunciphiseni ingozi yakho yokwehluleka kwezinso. Udokotela wakho angangeza lezi ku-ACE inhibitor yakho noma i-ARB. Akuwona wonke ama-SGLT-2 inhibitors avunyelwe ukwelapha i-CKD. Udokotela wakho angase angakuniki lezi uma i-eGFR yakho iphansi kakhulu.
• Ukudla okulawulwa yi-sodium: Ukunciphisa inani likasawoti kanye ne-sodium ekudleni kwakho kungasiza ekwehliseni umfutho wegazi futhi kulondoloze impilo yezinso kanye nenhliziyo.

Ingabe ukufakelwa izinso kungayelapha i-Alport syndrome?

Yebo futhi cha. Ngokufakelwa izinso, uthola izinso ezine-"Type IV collagen" evamile kanye ne-filtration membranes. Ngakho-ke, i-Alport syndrome ngeke ibuye enso entsha.

Kodwa-ke, ukufakelwa izinso ngeke kusize ngezinye izimpawu, njengokulahlekelwa ukuzwa nezinkinga zamehlo.

Singakuvimbela kanjani lokhu?

I-Alport syndrome ayinakuvinjelwa. Kodwa-ke, ukwazi umlando womndeni wakho kungakusiza ukuthi uwubone kusenesikhathi. Kungakusiza futhi ukuvimbela izingane zakho ukuthi zingawudluliseli.

Ukuxilongwa kusenesikhathi kwe-Alport syndrome kanye nokuqala ukwelashwa ngama-ACE inhibitors/ARBs kanye nama-SGLT-2 inhibitors kuyindlela engcono kakhulu yokulibazisa ukwehluleka kwezinso.

Uma udokotela ethi unegazi emchameni wakho, kungumqondo omuhle ukuthola izivivinyo ezengeziwe ze-Alport syndrome, ikakhulukazi uma unezinkinga zokuzwa noma ukusebenza kwezinso okunciphayo.

Uma othile emndenini wakho enomlando wegazi emchameni (i-hematuria), udokotela kufanele ahlole umchamo wakho ukuze abone igazi futhi enze ukuhlolwa kwegazi ukuze ahlole ukusebenza kwezinso zakho.

Impilo yami izohlala kanjani uma ngine-Alport syndrome?

Amadoda ane-`(XLAS)` kanye nanoma ubani one-`(ARAS)` avame ukuba nokwehluleka kwezinso kanye nokulahlekelwa ukuzwa ngaphambi kokuba abe neminyaka engu-30.

Abesifazane abane-XLAS bavame ukuba nesikhathi sokuphila esijwayelekile. Ungase ube ne-microscopic hematuria, i-proteinuria, i-CKD, noma ukwehluleka kwezinso kanye nokulahlekelwa ukuzwa. Wonke umuntu usabela ngendlela ehlukile. Kodwa abesifazane abangu-16% bazoba nokwehluleka kwezinso lapho beneminyaka engu-60, kanti abangu-20% bazoba nokwehluleka kwezinso lapho beneminyaka engu-80.

Abantu abane-`(ADAS)` bangaba nezimpendulo ezihlukene, futhi bangaba nokuphila okuvamile. Ukulahlekelwa ukuzwa kanye nokwehluleka kwezinso akuvamile kakhulu ku-`(ADAS)`.

Isifo sezinso esingamahlalakhona (i-CKD) kanye nokwehluleka kwezinso kuvame ukufinyeza isikhathi sokuphila kwabantu abane-Alport syndrome. I-CKD yandisa ingozi yokufa ngenxa yesifo senhliziyo kanye nesifo sohlangothi. Ukwehluleka kwezinso kuyabulala ngaphandle kokuhlinzwa kwe-dialysis noma ukufakelwa kwezinso. Ngisho noma ukwelashwa, ukwehluleka kwezinso kwandisa ingozi yokufa ngenxa yesifo senhliziyo, isifo sohlangothi, kanye nokutheleleka. Kuye ngokuthi izinso ezifakwe kwenye indawo zisebenza kahle kangakanani, ukufakelwa kwezinso kungakusiza ukuthi uphile impilo evamile.

Ngizinakekela kanjani?

Uma une-Alport syndrome, udokotela uzokusiza ukuthi wakhe uhlelo lokwelapha olungcono kakhulu. Lokhu kungafaka phakathi imithi kanye nezinguquko endleleni yokuphila.

Ukwelashwa kwezokwelapha

• Thatha ama-ACE inhibitors, ama-ARB, noma ama-SGLT-2 inhibitors njengoba kunqunywe udokotela wakho.
• Gwema ukuthatha imithi yokubulala izinhlungu (imithi engeyona eye-steroidal elwa nokuvuvukala - ama-NSAID). Lokhu kungasheshisa ukwehluleka kwezinso uma unesifo sezinso esingajwayelekile noma i-Alport syndrome.
• Hlola ukuzwa kwakho.Uma unenkinga enkulu yokuzwa futhi udokotela wakho encoma izinsiza zokuzwa, kuwumqondo omuhle ukuzisebenzisa. Ngaphandle kwalokho, ungase ukuthole kunzima ukuxhumana nabanye, okukwenza uzizwe unesizungu futhi unesizungu. Le mizwa yokuzihlukanisa ingaholela ekucindezelekeni. Izinsiza zokuzwa zingathuthukisa ubudlelwano bakho nalabo abakuzungezile, zithuthukise imizwa yakho, futhi zikusize ulawule noma uvimbele ukucindezeleka.
• Nakekela impilo yakho yengqondo. Ukuba nesimo sofuzo kungaba yisizungu, futhi ukufunda ukuthi i-Alport syndrome ingabangela ukwehluleka kwezinso noma ukulahlekelwa ukuzwa kungandisa ingozi yakho yokucindezeleka. Kubalulekile ukukhuluma nodokotela wakho nganoma yiziphi izinkinga zempilo yengqondo onayo bese uthola ukwelashwa okudingayo. Buza udokotela wakho ukuthi akhona yini amaqembu okusekela abantu abane-Alport syndrome. Ukuhlangana nabantu abanjalo kungakusiza uzizwe ungedwa.

Izinguquko zendlela yokuphila

• Nciphisa inani likasawoti ekudleni kwakho.
• Uma une-CKD, kungadingeka ulandele ukudla okukhethekile. Lokhu kungafaka phakathi ukunciphisa ukudla kwakho amaprotheni ezilwane, ukushintshela ekudleni okusekelwe ezitshalweni, ukugwema ukudla okune-potassium eningi uma unamazinga aphezulu e-potassium egazini, kanye nokunciphisa ukudla amaprotheni uma une-phosphorus ephezulu egazini noma i-parathyroid hormone (PTH).
• Ukulandela indlela yokuphila enempilo yenhliziyo kungasiza ekunciphiseni ingozi yakho yesifo senhliziyo, isifo sikashukela, nezinye izimo ezingaholela ekuhlulekeni kwezinso. Ukuzivocavoca njengokuhamba ngokushesha, ukugijima, ukubhukuda, ukugibela ibhayisikili kanye nokugxuma intambo kuhle. Kuhle futhi ukugcina isisindo esinempilo esifanele wena.
• Gwema ukubhema neminye imikhiqizo kagwayi. Bona udokotela uma udinga usizo lokuyeka ukubhema.

Kufanele ngimbone nini udokotela?

Bona udokotela uma unegazi emchameni wakho, ulahlekelwe ukuzwa, noma ulahlekelwe ukubona. Lokhu kungaba izimpawu ze-Alport syndrome.

Uma une-Alport syndrome, qiniseka ukuthi udokotela wakho ukukudlulisela kuchwepheshe wezinso (udokotela wezinso).

Uma othile emndenini wakho ene-Alport syndrome, bona udokotela ukuze abone ukuthi nawe unayo yini.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Uma ucabanga ukuthi ungaba ne-Alport syndrome, noma uma othile emndenini wakho ene-Alport syndrome, buza udokotela wakho le mibuzo:

• Uyazi ukuthi ungayibona kanjani i-Alport syndrome?
• Ungangithumela kuchwepheshe owaziyo ukuthi angayithola kanjani i-Alport syndrome?
• Ingabe kukhona igazi emchameni wami?
• Ingabe ukusebenza kwezinso zami kuyehla?
• Ingabe kufanele ngihlolwe ukuzwa noma amehlo?
• Ingabe kufanele ngihlolwe i-biopsy yezinso?
• Ingabe kufanele ngihlolwe izakhi zofuzo?

Uma une-Alport syndrome, buza udokotela wakho le mibuzo:

• Wazi kanjani ukuthi ngine-Alport syndrome?
• Ngingathunyelwa nini kudokotela wezinso (udokotela wezinzwa) owaziyo nge-Alport syndrome?
• Uhlobo luni lwe-Alport syndrome enginalo?
• Ingabe ngizodlulisela i-Alport syndrome ezinganeni zami?
• Iyini i-`(GFR)` yami?
• Ingakanani iphrotheni etholakala emchameni wami?
• Uqala nini i-`(ACE inhibitor)` noma `(ARB)`?
• Ingabe ngizozuza nge-SGLT-2 inhibitor?
• Yimiphi eminye imithi oyincomayo?
• Kufanele ngihlele kangaki ama-aphoyintimenti ukuze ngihlole impilo yezinso zami?
• Kufanele ngihlolwe kangaki ukuzwa kwami?
• Ingabe kufanele ngibone udokotela wamehlo ukuze ahlole amehlo ami?
• Ungancoma amaqembu okusekela abantu abane-Alport syndrome?

I-Alport syndrome yisimo esonakalisa imithambo yegazi ezinso zakho. Ukuguquka kwezakhi zofuzo zakho kuthinta indlela izinso zakho ezisebenza ngayo, futhi kungathinta nokuzwa kwakho kanye nokubona.

Ungase ube nemizwa ehlukahlukene njengoba ubhekana nalesi sifo kanye nendlela i-Alport syndrome ethinta ngayo impilo yakho. Kubalulekile ukuzinika isikhathi nendawo yokuqonda isimo sakho kanye nezinketho zokwelashwa. Ukwazi izinketho zakho nokuthi yini ongayilindela kungakusiza ukuphatha imizwa yakho. Nguwe owenza izinqumo zokugcina mayelana nempilo yakho, futhi udokotela wakho ukhona ukukunikeza ulwazi nesiqondiso. Uma unemibuzo, udinga ukwesekwa, noma udinga iseluleko, khuluma naye.

Umyalezo obaluleke kakhulu okufanele uwuthathe uye nawo ekhaya

Nakuba i-Alport syndrome iyisifo esibucayi, esithinta izakhi zofuzo impilo yonke, ukutholakala kusenesikhathi kanye nokuphathwa okufanele kungasiza abantu baphile impilo evamile.

Uma othile emndenini wakho enalezi zimpawu (ikakhulukazi igazi emchameni, ukulahlekelwa ukuzwa), noma uma uzizwa wena ngokwakho, akukaze kube sekwephuzile ukufuna iseluleko sezokwelapha. Ngokuhlolwa nokwelashwa okufanele, unganciphisa ukulimala kwezinso futhi ulondoloze ikhwalithi yempilo yakho. Khumbula, awuwedwa, futhi odokotela nabathandekayo bakho bakhona ukukusiza.

I- Alport syndrome, isifo sezinso, izifo zofuzo, i-collagen, igazi emchameni, ukulahlekelwa ukuzwa, izifo zamehlo