Isifo se-Alström

I-Alström syndrome yisifo esingajwayelekile kakhulu. Idluliselwa emindenini (ezuzwe njengefa). Lesi sifo singaholela ekubeni yimpumputhe, ukungezwa, isifo sikashukela nokukhuluphala ngokweqile.

Isifo i-Alström syndrome sizuzwa njengefa ngendlela eguquguqukayo ye-autosomal. Lokhu kusho ukuthi bobabili abazali bakho kumele badlulise ikhophi yesakhi sofuzo esingalungile (ALMS1) ukuze ube nalesi sifo.

Akukaziwa ukuthi isakhi sofuzo esingalungile sidala kanjani lesi sifo.

Isimo asivamile kakhulu.

Izimpawu ezijwayelekile zalesi simo yilezi:

• Ubumpumputhe noma ukukhubazeka okukhulu kwamehlo ebuntwaneni
• Izikhumba ezimnyama zesikhumba (i-acanthosis nigricans)
• Izithulu
• Ukukhubazeka kwenhliziyo ukusebenza (i-cardiomyopathy), okungaholela ekuhlulekeni kwenhliziyo
• Ukukhuluphala ngokweqile
• Ukuhluleka kwezinso okuqhubekayo
• Ukukhula okuhamba kancane
• Izimpawu zokuqala kwengane noma uthayiphe isifo sikashukela sesi-2

Ngezikhathi ezithile, okulandelayo kungenzeka futhi:

• I-reflux yesisu
• I-Hypothyroidism
• Ukungasebenzi kwesibindi
• Umthondo omncane

Udokotela wamehlo (ophthalmologist) uzohlola amehlo. Umuntu kungenzeka ukuthi unciphise ukubona.

Ukuhlolwa kungenziwa ukubheka:

• Amazinga kashukela egazini (ukuxilonga i-hyperglycemia)
• Ukuzwa
• Umsebenzi wenhliziyo
• Umsebenzi wegilo
• Amazinga e-Triglyceride

Akukho ukwelashwa okuqondile kwalesi sifo. Ukwelashwa kwezimpawu kungafaka:

• Umuthi wesifo sikashukela
• Izinsiza-kuzwa
• Umuthi wenhliziyo
• Ukushintshwa kwehomoni yegilo

I-Alström Syndrome International - www.alstrom.org

Okulandelayo kungenzeka kuthuthuke:

• Izithulu
• Ubumpumputhe obungapheli
• Thayipha 2 sikashukela

Ukwehluleka kwezinso nesibindi kungahle kube kubi kakhulu.

Izinkinga ezingaba khona yilezi:

• Izinkinga zesifo sikashukela
• Isifo semithambo yegazi (esivela kushukela kanye ne-cholesterol ephezulu)
• Ukukhathala nokuphefumula okuncane (uma kungasebenzi kahle kwenhliziyo)

Shayela umhlinzeki wakho wezokunakekelwa kwezempilo uma wena noma ingane yakho unezimpawu zesifo sikashukela. Izimpawu ezivamile zesifo sikashukela ukwanda kokoma nokuchama. Funa usizo lwezempilo ngokushesha uma ucabanga ukuthi ingane yakho ayikwazi ukubona noma ukuzwa ngendlela ejwayelekile.

I-Farooqi IS, i-O'Rahilly S. Syndromes yezakhi zofuzo ehlotshaniswa nokukhuluphala. Ku: Jameson JL, De Groot LJ, de Kretser DM, et al, abahleli. I-Endocrinology: Eyabantu Abadala Neyengane. Umhla wesi-7. IPhiladelphia, PA: Elsevier Saunders; 2016: isahluko 28.

I-Freund KB, uSarraf D, uMieler WF, uYannuzzzi LA. Ama-dystrophies we-Hereditary chorioretinal. Ku: Freund KB, Sarraf D, Mieler WF, Yannuzzi LA, eds. I-Retina Atlas. Okwesibili. IPhiladelphia, PA: Elsevier; I-2017: isahluko 2.

ITorres VE, iHarris PC. Izifo ze-cystic zezinso. Ku: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, ama-eds. IBrenner neRector's The Kidney. Umhla ka-11. IPhiladelphia, PA: Elsevier; 2020: isahluko 45.