Wolfram (DIDMOAD) Syndrome: Case Report

Yıl 2022, Cilt: 17 Sayı: 2, 232 - 235, 15.07.2022

Eda Altun , Saime Paydas , Bülent Kaya , İbrahim Karayaylalı

https://doi.org/10.17517/ksutfd.878579

Cited By: 1

Öz

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.

Anahtar Kelimeler

Diabetes insipidus, Urinary tract abnormalities, Wolfram syndrome

Wolfram (DIDMOAD) Sendromu: Olgu Sunumu

Öz

Özet
Wolfram sendromu, diyabetes mellitus, optik atrofi, diyabetes insipitus, işitme kaybı ile karakterize otozomal resesif geçiş gösteren genetik bir hastalıktır. Hastalarda nörolojik rahatsızlıklar, üriner sistem hastalıkları ve psikolojik rahatsızlıklarda izlenir. Vakaların büyük kısmında Wolframin proteinini kodlayan
Wolfram sendrom gen-1 deki mutasyonlar sorumludur. Şüpheli vakalarda genetik tanı ile erken tanı konularak, gerekli hormonal tedavinin başlanması ve yaşam kalitesinin artması mümkündür. Bu yazıda, tip 1 diyabetes mellitus tanısı ile takip edilirken bilateral hidronefroz ve poliüri nedeni ile tetkik edilen ve
Wolfram sendromu tanısı alan 28 yaşında kadın vakayı sunduk.

Anahtar Kelimeler

Diabetes insipidus, Üriner sistem anomalileri, Wolfram sendromu

Kaynakça

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