Mehmet DAVUTOĞLU, H. KARABİBER, E. GÜLER, D. ÇITIRIK, A. ÖZBEK

Wolfram sendromu tanısı alan iki kardeş olgunun retrospektif incelemesi

Wolfram sendromu 1/770000 oranında görülen patogenezi tam olarak bilinmeyen otozomal resesif kalıtımlı, dismorfogenetik bir hastalıktır. DİDMOAD sendromu olarak da adlandırılır. Başlıca diabetes mellitus, diabetes insipitus, optik atrofi ve sağırlıkla karakterizedir. Bu yazıda, Wolfram sendromu tanısı konulup takip edilen 8 ve 14 yaşlarındaki iki erkek kardeş sunuldu. On dört yaşındaki olgu 7 yıldır tip 1 diabetes mellitus tanısıyla izlenmekte iken, yapılan muayene ve laboratuar tetkiklerinde nörojen mesane ve işitme kaybının eşlik ettiği tespit edildi. Sekiz yaşında olan olguda ise 3 yıldır tip 1 diabetes mellitus, yaklaşık 2 yıldır diabetes insipitus tanılarıyla takip ediliyordu. Ayrıca işitme ve görmede azalma ile nörojen mesane varlığı söz konusuydu. Wolfram sendromu otozomal resesif geçiş gösterdiğinden, erken tanı için ailenin diğer fertlerinde bu hastalık olabileceği göz önünde bulundurularak, aile taraması yapılması gerekliliği vurgulandı.

Retrospective analysis of two brothers with the diagnosis of Wolfram syndrome

Wolfram syndrome, seen in 1/770000 of the population is an autosomal recessive dysmorphogenetical disease with unknown pathogenesis. It is characterized with the association of diabetes mellitus, diabetes insipidus, optic atrophy and deafness, and also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness). We present two brothers aged 8 and 14 years followed-up with the diagnosis of Wolfram syndrome in this article. Physical and laboratory exam revealed neurogenic bladder and deafness in the 14-year-old one who had been followed-up with juvenile-onset diabetes mellitus for 7 years. The other brother had been followed-up with the diagnosis of juvenile diabetes mellitus and diabetes insipidus for 3 and 2 years, respectively. He also had deafness, optic defect and neurogenic bladder. We emphasize the importance of family screening regarding the early diagnosis of Wolfram syndrome in the other individuals of the family since the disease shows an autosomal recessive inheritance.

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