Wolfram sendromu tanısı alan iki kardeş olgunun retrospektif incelemesi

Davutoğlu M; Karabiber H; Güler E; Çıtırık D; Özbek A

EN TR

Retrospective analysis of two brothers with the diagnosis of Wolfram syndrome

Abstract

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.

Keywords

Early diagnosis, inheritance, Wolfram syndrome

Details

Primary Language

Turkish

Subjects

-

Journal Section

-

Authors

Davutoğlu M

Karabiber H

Güler E

Çıtırık D

Özbek A

Publication Date

June 1, 2008

Submission Date

June 1, 2008

Acceptance Date

-

Published in Issue

Year 2008 Volume: 47 Number: 2

IZ

https://izlik.org/JA62YG62US

Cite

RIS / Bibtex

Vancouver

1.Davutoğlu M, Karabiber H, Güler E, Çıtırık D, Özbek A. Wolfram sendromu tanısı alan iki kardeş olgunun retrospektif incelemesi. EJM [Internet]. 2008 Jun. 1;47(2):139-41. Available from: https://izlik.org/JA62YG62US

Retrospective analysis of two brothers with the diagnosis of Wolfram syndrome

Abstract

Keywords