Alström syndrome

Alström syndrome o se faamaʻi seasea lava. E pasi mai i aiga (tofi). O lenei faʻamaʻi e mafai ona tauaso, tutuli, maʻi suka, ma le puta tele.

Alström syndrome e maua i se autosomal recessive faiga. O lona uiga e tatau i ou matua uma ona pasi se kopi o le le atoatoa gene (ALMS1) ina ia mafai ai ona maua oe i lenei maʻi.

E leʻo iloa pe faʻapefea ona tupu ai le faʻamaʻi i le gafa le atoatoa.

E seasea tupu le tulaga.

Faʻailoga masani o lenei tulaga o:

• Tauaso pe ogaoga le vaʻai vaʻaiga a o pepe
• Paʻu pogisa o le paʻu (acanthosis nigricans)
• Tutuli
• Le lelei fatu gaioiga (cardiomyopathy), lea e ono taitai atu ai i le fatu toilalo
• Puta tele
• Alualu i luma fatugaʻo
• Tuputupu lemu
• Faʻailoga o le tamaititi-amata poʻo le ituaiga 2 suka

Mai lea taimi i lea taimi, o mea nei e mafai foi ona tupu:

• Suauʻu gastrointestinal
• Hypothyroidism
• Le afaina le ate
• Laʻitiiti

O le fomaʻi mata (ophthalmologist) o le a suʻesuʻeina mata. Atonu ua faʻaitiitia le vaʻai a le tagata.

E mafai ona faia suʻega e siaki ai:

• Toto suka tulaga (e faʻamaonia hyperglycemia)
• Faʻalogo
• Gaioiga fatu
• Gaioiga o le thyroid
• Triglyceride tulaga

E leai se faʻapitoa togafitiga mo lenei faʻamai. Togafitiga mo auga e mafai ona aofia ai:

• Fomaʻi suka
• Fesoasoani faʻalogo
• Loto togafitiga
• Suia homone hormon

Alström Syndrome Faʻavaomalo - www.alstrom.org

O mea nei atonu e atiaʻe:

• Tutuli
• Tauaso tumau
• Ituaiga 2 suka

Fatugao ma le ate toilalo ono atili ai le leaga.

Faʻafitauli mafai o:

• Faʻafitauli mai le maʻi suka
• Faʻamaʻi o le alatoto toto (mai suka ma maualuga kolisi)
• Le lelava ma le manava puʻupuʻu (pe a fai e le togafitia le leaga o le fatu galue)

Valaʻau lau fomaʻi pe a fai o oe poʻo lou alo o loʻo i ai faʻailoga o le maʻisuka. Faʻailoga masani o le maʻisuka o le faʻateleina le galala ma urination. Saili loa se togafitiga faʻafomaʻi pe a e manatu o lau tama e le mafai ona vaʻai pe faʻalogo masani.

Farooqi IS, O'Rahilly S. Genetic syndromes e fesoʻotaʻi ma le puta tele. I totonu: Jameson JL, De Groot LJ, de Kretser DM, et al, eds. Endocrinology: Matutua ma Tamaiti. 7th ed. Filatelefaia, PA: Elsevier Saunders; 2016: mata 28.

Freund KB, Sarraf D, Mieler WF, Yannuzzzi LA. Teteʻe chorioretinal dystrophies. I: Freund KB, Sarraf D, Mieler WF, Yannuzzi LA, eds. Le Retinal Atlas. 2nd ed. Filatelefia, PA: Elsevier; 2017: mata 2

Torres VE, Harris PC. Faamaʻi Cystic o le fatugaʻo. I: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, eds. Brenner ma Rector's Le Fatugaʻo. 11th lomiga. Filatelefia, PA: Elsevier; 2020: chap 45.