Rare case of Alstrom syndrome without obesity and with short stature, diagnosed in adulthood
Nephrology, cilt.11, sa.2, ss.81-84, 2006 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 11 Sayı: 2
- Basım Tarihi: 2006
- Doi Numarası: 10.1111/j.1440-1797.2006.00443.x
- Dergi Adı: Nephrology
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.81-84
- Anahtar Kelimeler: Alstrom syndrome, Blindness, Deafness, Normal body weight, Renal dysfunction, Short stature
- Yozgat Bozok Üniversitesi Adresli: Hayır
Özet
Alstrom syndrome is a rare autosomal recessive disorder characterized by retinal degeneration, sensorineural hearing loss, obesity, type 2 diabetes mellitus and chronic nephropathy. It may be associated with acanthosis nigricans, hypergonadotropic hypogonadism, hepatic dysfunction, hepatic steatosis, hyperlipidaemia, dilated cardiomyopathy and short stature. We report a patient with Alstrom syndrome who had hypergonadotropic hypogonadism, hepatic dysfunction, hepatic steatosis and short stature with normal body weight, all of which are seen infrequently with this syndrome. © 2006 Asian Pacific Society of Nephrology.