Cudurka 'Alström syndrome'

Alström syndrome waa cudur aad dhif u ah. Waxaa loo sii gudbiyaa qoysaska (dhaxal). Cudurkani wuxuu u horseedi karaa indho la’aan, dhago la’aan, macaan, iyo cayilnaan.

Cudurka 'Alström Syndrome' waxaa loo dhaxlaa si habsami ah autosomal recessive. Tan macnaheedu waxa weeye in labadaada waalidba ay u sii gudbiyaan nuqul hidde-wade cilladaysan (ALMS1) si aad cudurkan u qaaddid.

Lama oga sida hiddo-wadaha cilladaysan uu u sababo cilladda.

Xaaladda ayaa aad u yar.

Calaamadaha caadiga ah ee xaaladan waa:

• Indhoole ama aragga oo aad u liita yaraantiis
• Maqaarka maqaarka madow (acanthosis nigricans)
• Dhago la'aan
• Shaqada wadnaha oo daciif ah (cardiomyopathy), taas oo u horseedi karta wadno istaag
• Cayilka
• Kelyaha oo shaqeynaya
• Koritaanka oo gaabis ah
• Calaamadaha lagu garto carruurnimada-bilawga ama nooca 2aad ee sonkorowga

Mararka qaarkood, kuwan soo socda ayaa sidoo kale dhici kara:

• Reflux-ka caloosha iyo mindhicirka
• Hypothyroidism-ka
• Ciladda beerka
• Guska yar

Dhakhtarka indhaha (dhakhtarka indhaha) ayaa baari doona indhaha. Qofka waxaa laga yaabaa inuu aragga yareeyay.

Tijaabooyinka waxaa loo samayn karaa si loo hubiyo:

• Heerarka sonkorta dhiigga (si loo ogaado hyperglycemia)
• Maqalka
• Shaqada wadnaha
• Waxqabadka qanjirka 'thyroid'
• Heerarka Triglyceride

Ma jiro daaweyn gaar ah oo loogu talagalay cilladan cilladdan. Daaweynta astaamaha waxaa ka mid noqon kara:

• Dawada sonkorowga
• Qalabka gargaarka maqalka
• Daawada wadnaha
• Beddelka hormoonka tayroodhka

Alström Syndrome International - www.alstrom.org

Kuwa soo socda ayaa laga yaabaa inay soo baxaan:

• Dhago la'aan
• Indho la’aan joogto ah
• Nooca 2aad ee sonkorowga

Kelyaha iyo beerka oo hawlgab noqdaa way ka sii dari karaan.

Dhibaatooyinka suuragalka ah waa:

• Dhibaatooyinka ka yimaada cudurka macaanka
• Cudurka halbowlayaasha wadnaha (laga bilaabo sonkorowga iyo kolestaroolka sare)
• Daal iyo neef-qabad (haddii wadnaha oo aan fiicnayn la daweeyo)

Wac bixiyaha xanaanada caafimaadkaaga hadii adiga ama cunugaaga aad isku aragtaan astaamaha cudurka macaanka. Calaamadaha lagu garto cudurka macaanka ayaa ah harraad iyo kaadida oo kordha. Raadso daryeel caafimaad isla markiiba haddii aad u malaynayso in ilmahaagu aanu wax arki karin ama wax maqli karin.

Farooqi IS, O’Rahilly S. Cilladaha hidde-wadaha ee la xiriira buurnida. Gudaha: Jameson JL, De Groot LJ, de Kretser DM, et al, eds. Endocrinology: Dadka waaweyn iyo carruurta. 7aad ed. Philadelphia, PA: Elsevier Saunders; 2016: cutubka 28.

Freund KB, Sarraf D, Mieler WF, Yannuzzzi LA. Waxyaabaha la iska dhaxlo ee chorioretinal dystrophies. Gudaha: Freund KB, Sarraf D, Mieler WF, Yannuzzi LA, eds. Atlaska Retinal. 2aad ed. Philadelphia, PA: Elsevier; 2017: cutubka 2.

Torres VE, Harris PC. Cudurada ku dhaca kilyaha. Gudaha: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, eds. Brenner iyo Raktarka kilyaha. 11aad. Philadelphia, PA: Elsevier; 2020: cutubka 45.