Isifo seAlport

Isifo iAlport syndrome sisifo esizuzwe njengelifa esonakalisa imithambo yegazi encinci kwizintso. Ikwabangela ukulahleka kwendlebe kunye nengxaki yamehlo.

I-Alport syndrome luhlobo lwelifa lokudumba kwezintso (nephritis). Kubangelwa sisiphene (uguquko) kuhlobo lweprotein kwizihlunu ezihlanganayo, ezibizwa ngokuba yi-collagen.

Isifo sinqabile. Zintathu iintlobo zofuzo:

• I-X-linked Alport syndrome (XLAS) - Olu lolona hlobo luqhelekileyo. Esi sifo siqatha emadodeni kunakwabasetyhini.
• I-Autosomal recessive Alport syndrome (i-ARAS) -Amadoda nabasetyhini banesifo esibi ngokulinganayo.
• I-Autosomal ephezulu yeAlport syndrome (i-ADAS) -Olu lolona hlobo lunqabileyo. Amadoda nabasetyhini banesifo esibi ngokulinganayo.

IINTSHINTSHO

Ngazo zonke iintlobo zesifo seAlport izintso ezichaphazelekayo. Imithambo yegazi encinci kwi-glomeruli yezintso yonakele. Iglomeruli licoca igazi ukwenza umchamo kwaye lisuse inkunkuma egazini.

Ekuqaleni, akukho zimpawu. Ixesha elingaphezulu, njengoko ii-glomeruli zisiya zisonakala ngakumbi, ukusebenza kwezintso kuyalahleka kwaye iimveliso zenkunkuma kunye nolwelo luyakha emzimbeni. Imeko inokuqhubela phambili kwisigaba sokugqibela sesifo se-renal (ESRD) besebancinci, phakathi kwexesha lokufikisa kunye ne-40 yeminyaka. Ngeli nqanaba, kufuneka i-dialysis okanye ukufakelwa kwezintso.

Iimpawu zeengxaki zezintso zibandakanya:

• Umbala womchamo ongaqhelekanga
• Igazi kumchamo (onokuthi ube mandundu ngezifo zokuphefumla okanye umthambo)
• Intlungu yeflank
• Igazi elonyukayo
• Ukudumba emzimbeni wonke

IINDlebe

Ixesha elingaphezulu, isifo iAlport sikhokelela ekulahlekelweni kokuva. Ngabaselula abakwishumi elivisayo, kuyinto eqhelekileyo emadodeni ane-XLAS, nangona kwabasetyhini, ukuphulukana nokuva akufani kwaye kwenzeka xa sele bebadala. Nge-ARAS, amakhwenkwe namantombazana anengxaki yokuva ebuntwaneni. Nge-ADAS, kwenzeka kamva ebomini.

Ukuphulukana nokuva kuhlala kwenzeka ngaphambi kokusilela kwezintso.

AMEHLO

IAlport syndrome ikwakhokelela kwiingxaki zamehlo, kubandakanya:

• Ubume obungaqhelekanga beelensi (i-anterior lenticonus), enokuthi ikhokelele ekunciphiseni kancinci kombono kunye neekati.
• Ukhukuliseko lwe-Corneal apho kukho ilahleko yomaleko wangaphandle wokugqunywa kwamehlo, okukhokelela kwintlungu, ukurhawuzelela, okanye ukuba bomvu kwamehlo, okanye umbono ongacacanga.
• Umbala ongaqhelekanga we-retina, imeko ebizwa ngokuba yi-dot-and-fleck retinopathy. Ayibangeli iingxaki zombono, kodwa inokunceda ukufumanisa isifo seAlport.
• Umngxunya we-Macular apho kukho ukuncipha okanye ikhefu kwi-macula. I-macula yinxalenye ye-retina eyenza umbono ophakathi ubukhali kwaye ube neenkcukacha. Umngxunya we-macular ubangela umbono ophakathi okanye ophosakeleyo.

Umboneleli wezempilo uyakukuvavanya akubuze malunga neempawu zakho.

Olu vavanyo lulandelayo lunokwenziwa:

• I-BUN kunye ne-serum creatinine
• Gcwalisa ubalo lwegazi
• I-biopsy yezintso
• Uhlalutyo lomchamo

Ukuba umboneleli wakho ukrokrela ukuba une-Alport syndrome, uya kuba nembono kunye novavanyo lokuva.

Iinjongo zonyango zibandakanya ukubeka esweni nokulawula isifo kunye nokunyanga iimpawu.

Umboneleli wakho unokucebisa nakuphi na oku kulandelayo:

• Ukutya okuthintela ityuwa, ulwelo kunye ne potassium
• Amayeza okulawula uxinzelelo lwegazi

Isifo sezintso silawulwa ngu:

• Ukuthatha amayeza ukunciphisa ukusebenza kwezintso
• Ukutya okuthintela ityuwa, ulwelo kunye neprotein

Ukuphulukana nendlebe kunokulawulwa ngoncedo lokuva. Iingxaki zamehlo ziphathwa njengoko kufuneka. Umzekelo, ilensi engaqhelekanga ngenxa yelensi okanye ikhathakhatha inokubuyiselwa.

Ingcebiso ngemfuzo inokucetyiswa ngenxa yokuba ukuphazamiseka kuzuzwe njengelifa.

Ezi zixhobo zibonelela ngolwazi oluthe kratya kwi-Alport syndrome:

• Isiseko seAlport Syndrome-www.alportsyndrome.org/about-alport-syndrome
• Isiseko seNtso kuZwelonke- www.kidney.org/atoz/content/alport
• Umbutho weSizwe weengxaki zoRare- rarediseases.org/rare-diseases/alport-syndrome

Abasetyhini bahlala benobomi obuqhelekileyo ngaphandle kweempawu zesifo ngaphandle kwegazi kumchamo. Kwiimeko ezinqabileyo, abasetyhini banexinzelelo oluphezulu lwegazi, ukudumba, kunye nokungeva nge-nerve njengengxaki yokukhulelwa.

Emadodeni, ukungeva, iingxaki zombono, kunye nesifo sokugqibela sesifo sezintso kunokwenzeka ukuba babe neminyaka engama-50.

Njengoko izintso zingaphumeleli, idialysis okanye ukufakelwa kuya kufuneka.

Biza ixesha lokubonana nomboneleli wakho ukuba:

• Unempawu zesifo iAlport
• Unembali yosapho ye-Alport syndrome kwaye ucwangcisa ukuba nabantwana
• Iziphumo zokuchama kwakho ziyancipha okanye ziyeke okanye ubone igazi kumchamo wakho (oku kunokuba luphawu lwesifo sezintso ezingapheliyo)

Ukuqaqanjiswa kwemiba yomngcipheko, enje ngembali yosapho yesifo, kunokuvumela imeko ukuba ibonwe kwangethuba.

Nephritis ilifa; Hematuria - nephropathy - ukungeva; I-nephritis yosapho eyophayo; Ilifa lokungeva kunye nephropathy

• I-anatomy yezintso

UGregory MC. Isifo seAlport kunye nokuphazamiseka okunxulumene noko. Ku: Gilbert SJ, Weiner DE, ii-eds. Isiseko seZintso seSizwe seZintso. Umhla wesi-7. IPhiladelphia, PA: Elsevier; I-2018: isahluko 42.

URadhakrishnan J, iAppel GB, iD'Agati VD. Isifo se-glomerular sesibini. Ku: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, ii-eds. Brenner kunye noMphathi weZintso. Ngomhla we-11. IPhiladelphia, PA: Elsevier; 2020: isahluko 32.

IRheault MN, iKashtan CE. IAlport syndrome kunye namanye ama-syndromes osapho lwe-glomerular. Ku: Feehally J, Floege J, Tonelli M, Johnson RJ, ii-eds. I-Clinical Nephrology epheleleyo. Umhla wesi-6. IPhiladelphia, PA: Elsevier; I-2019: isahluko 46.