Lefu la Alström

Alström syndrome ke lefu le sa tloaelehang haholo. E fetisoa ka malapa (e futsitsoeng). Lefu lena le ka lebisa bofofu, ho se utloe, lefu la tsoekere le botenya.

Alström syndrome e futsitsoe ka mokhoa o fetelletseng oa boiketsetso. Sena se bolela hore batsoali ba hau ka bobeli ba tlameha ho fetisa kopi ea lefutso le nang le sekoli (ALMS1) molemong oa hore o be le lefu lena.

Ha ho tsejoe hore na lefutso le nang le sekoli le baka lefu lena joang.

Boemo bo sa tloaelehang haholo.

Matšoao a tloaelehileng a boemo bona ke:

• Bofofu kapa ho holofala ho matla boseeng
• Matlalo a lefifi (acanthosis nigricans)
• Ho se utloe litsebeng
• Ho se sebetse hantle ha pelo (cardiomyopathy), e ka lebisang ho hloleha ha pelo
• Botenya
• Tsoelo-pele ea liphio e tsoelang pele
• Khōlo e liehang
• Matšoao a ts'oaetso ea bongoana kapa mofuta oa 2 lefu la tsoekere

Nako le nako, tse latelang li ka hlaha hape:

• Reflux ea masapo
• Hypothyroidism
• Ho se sebetse ha sebete
• Pipi e nyane

Ngaka ea mahlo (ophthalmologist) e tla hlahloba mahlo. E ka 'na eaba motho eo o fokotse pono.

Liteko li ka etsoa ho hlahloba:

• Maemo a tsoekere ea mali (ho fumana hyperglycemia)
• Ho utloa
• Ts'ebetso ea pelo
• Mosebetsi oa qoqotho
• Maemo a Triglyceride

Ha ho na kalafo e khethehileng bakeng sa lefu lena. Kalafo ea matšoao e ka kenyelletsa:

• Meriana ea lefu la tsoekere
• Lithuso tsa kutlo
• Moriana oa pelo
• Phetolo ea lihomone tsa qoqotho

Alström Syndrome Machaba - www.alstrom.org

Tse latelang li kanna tsa hlaha:

• Ho se utloe litsebeng
• Bofofu bo sa feleng
• Mofuta oa 2 oa lefu la tsoekere

Ho hloleha ha liphio le sebete ho ka mpefala.

Mathata a ka bang teng ke:

• Mathata a lefu la tsoekere
• Lefu la methapo ea mali (le tsoang ho lefu la tsoekere le k'holeseterole e phahameng)
• Mokhathala le phefumoloho e khuts'oane (haeba pelo e sa sebetseng e sa alafuoe)

Bitsa mofani oa tlhokomelo ea bophelo haeba uena kapa ngoana oa hau a e-na le matšoao a lefu la tsoekere. Matšoao a tloaelehileng a lefu la tsoekere a eketsa lenyora le ho ntša metsi. Batla ngaka hang-hang haeba u nahana hore ngoana oa hao ha a bone kapa ho utloa hantle.

Farooqi IS, O'Rahilly S. Syndromes tsa lefutso tse amanang le botenya. Ka: Jameson JL, De Groot LJ, oa Kretser DM, et al, eds. Endocrinology: Batho ba baholo le bana. La 7th. Philadelphia, PA: Elsevier Saunders; 2016: khaolo ea 28.

Freund KB, Sarraf D, Mieler WF, Yannuzzzi LA. Liphatsa tsa lefutso tsa li-choreoretinal dystrophies. Ka: Freund KB, Sarraf D, Mieler WF, Yannuzzi LA, bahlophisi. Atlas ea Retina. Lekhetlo la bobeli. Philadelphia, PA: Elsevier; 2017: khaolo ea 2.

Torres VE, PC ea Harris. Mafu a cystic a liphio. Ka: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, li-eds. Brenner le Rector ea Liphio. 11th ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 45.