Isifo seAlström

Isifo seAlström sisifo esinqabileyo. Iyadluliselwa kwiintsapho (njengelifa). Esi sifo singakhokelela kubumfama, ukungeva, isifo seswekile kunye nokutyeba kakhulu.

Isifo iAlström syndrome sizuzwa njengelifa ngendlela ephindaphindayo. Oku kuthetha ukuba bobabini abazali bakho kufuneka badlulise ikopi yesakhi esineziphene (ALMS1) ukuze ube nesi sifo.

Akukaziwa ukuba ufuzo olungalunganga lubangela njani ukuphazamiseka.

Imeko inqabile kakhulu.

Iimpawu eziqhelekileyo zale meko zezi:

• Ubumfama okanye ukungaboni kakuhle ebusaneni
• Amabala amnyama esikhumba (acanthosis nigricans)
• Izithulu
• Umsebenzi wentliziyo ongasebenzi kakuhle (i-cardiomyopathy), enokuthi ikhokelele kukusilela kwentliziyo
• Ukutyeba kakhulu
• Ukuqhubela phambili kwezintso
• Ukukhula kancinci
• Iimpawu zokuqala komntwana okanye udidi lwesibini lweswekile

Ngamaxesha athile, oku kulandelayo kunokwenzeka:

• I-Reflux yesisu
• IHypothyroidism
• Ukungasebenzi kwesibindi
• Ipenisi encinci

Ugqirha wamehlo (ophthalmologist) uya kuvavanya amehlo. Umntu unokuba nenciphiso kwimbono.

Uvavanyo lunokwenziwa ukujonga:

• Amanqanaba eswekile yegazi (ukufumanisa isifo sehyperglycemia)
• Ukuva
• Umsebenzi wentliziyo
• Umsebenzi we-thyroid
• Amanqanaba e-Triglyceride

Akukho lonyango oluthile lwesi sifo. Unyango lweempawu zinokubandakanya:

• Iyeza leswekile
• Izinto zokuncedisa ukuva
• Iyeza lentliziyo
• Ukutshintshwa kwehomoni yedlala lengqele

IAlström Syndrome yaMazwe ngaMazwe- www.alstrom.org

Oku kulandelayo kunokwenzeka ukukhula:

• Izithulu
• Ubumfama obungapheliyo
• Uhlobo lwe-2 yeswekile

Ukungaphumeleli kwezintso kunye nesibindi kunokuba nzima.

Iingxaki ezinokubakho zezi:

• Iingxaki zesifo seswekile
• Imithambo yegazi (evela kwisifo seswekile kunye neecholesterol ephezulu)
• Ukudinwa kunye nokuphefumla (ukuba intliziyo ayisebenzi).

Fowunela umboneleli wakho wezempilo ukuba wena okanye umntwana wakho uneempawu zesifo seswekile. Iimpawu eziqhelekileyo zeswekile ziyanda ukoma kunye nokuchama. Funa unyango ngokukhawuleza ukuba ucinga ukuba umntwana wakho akakwazi kubona okanye ukuva ngendlela eqhelekileyo.

UFarooqi IS, u-O'Rahilly S. Syndromes yemfuza enxulunyaniswa nokutyeba kakhulu. Ku: Jameson JL, De Groot LJ, de Kretser DM, et al, ii-eds. Endocrinology: Abantu abadala kunye nabantwana. Umhla wesi-7. IPhiladelphia, PA: Elsevier Saunders; I-2016: isahluko 28.

Freund KB, Sarraf D, Mieler WF, Yannuzzzi LA. Ilifa lemichiza elenzelweyo. Ku: Freund KB, Sarraf D, Mieler WF, Yannuzzi LA, ii-eds. Iiatlasi zeRetinal. Ngomhla wesi-2. IPhiladelphia, PA: Elsevier; I-2017: isahluko 2.

I-Torres VE, i-PC yeHarris. Izifo ze-cystic zezintso. 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 45.