Wolfram (DIDMOAD) Syndrome: Case Report
Abstract
Abstract
Wolfram syndrome is autosomal recessive dysmorphogenetical disease and it is characterized with the association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Patients demonstrate neurological abnormalities, psychological disorders and urinary tract abnormalities. The mutations of the
Wolfram syndrome 1 gene, which encodes Wolframin are responsible for the majority of cases of Wolfram syndrome. With genetic analysis of patient with suspected features, the early diagnosis becomes an achievable reality. Early diagnosis and adequate hormonal supplementation can improve their quality of
life. We report here, a 28-year-old woman with a medical history of tip 1 diabetes mellitus and bilateral hydronephrosis and poliuria and diagnosed Wolfram syndrome.
Keywords
Diabetes insipidus , Urinary tract abnormalities , Wolfram syndrome
Kaynakça
- Wolfram DJ. Diabetes mellitus and simple optic atrophy among siblings: A report of four cases. Proc Mayo Clin 1938;13:715- 718.
- Barrett TG, Bundey SE. Wolfram (DIDMOAD) syndrome. J Med Genet 1997;34(10):838-841.
- Hilson JB, Merchant SN, Adams JC, Joseph JT. Wolfram syndrome: a clinicopathologic correlation. Acta Neuropathol. 2009 May 16. Epub ahead of print.
- Hofmann S, Philbrook C, Gerbitz KD, Bauer MF. Wolfram syndrome: Structural and functional analyses of mutant and wildtype wolframin, the WFS1 gene product. Hum Mol Genet 2003;12:2003-2012.
- Zmysłowska A, Borowiec M, Fendler W, Jarosz PS, Myśliwiec M, Szadkowska A et al. The prevalence of Wolfram syndrome in a paediatric population with diabetes. EndokrynologiaPolska 2014:65(4),295–297.
- Barrett T.G, Bundey, S.E, Macleod A.F. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome”, Lancet, 1995 2;346 (8988):1458-1463.
- Jayne AL, Lynne AR, Christopher R, Timothy GB. Wolfram Syndrome. Reviews End Met Dis 2003;4:53-59.
- Tekgul S, Oge O, Simsek E, Yordam N, Kendi S. Urological manifestations of the Wolfram syndrome: observations in 14 patients. J Urol 1999;161(2):616–617.
- Cremers CWR, Wijdeveld PGAB, Pinckers AJLG. Juvenile diabetes mellitus, optic atrophy, hearing loss, diabetes insipidus, atonia of the urinary tract and bladder and other abnormalities (Wolfram syndrome). Acta Paediatr Scand Suppl.1977;(264):1-16.
- Hattori H, Inada H, Tanaka K. Auditory brainstem responses (ABR) in patients with Wolfram syndrome. No To Hattatsu 1998;30(5):387-393.