TY  - JOUR
T1  - Wolfram (DIDMOAD) Sendromu: Olgu Sunumu
TT  - Wolfram (DIDMOAD) Syndrome: Case Report
AU  - Altun, Eda
AU  - Paydas, Saime
AU  - Kaya, Bülent
AU  - Karayaylalı, İbrahim
PY  - 2022
DA  - July
Y2  - 2021
DO  - 10.17517/ksutfd.878579
JF  - Kahramanmaraş Sütçü İmam Üniversitesi Tıp Fakültesi Dergisi
JO  - KSU Medical Journal
PB  - Kahramanmaras Sutcu Imam University
WT  - DergiPark
SN  - 1303-6610
SP  - 232
EP  - 235
VL  - 17
IS  - 2
LA  - tr
AB  - ÖzetWolfram 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 kodlayanWolfram 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 veWolfram sendromu tanısı alan 28 yaşında kadın vakayı sunduk.
KW  - Diabetes insipidus
KW  - Üriner sistem anomalileri
KW  - Wolfram sendromu
N2  - AbstractWolfram 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 theWolfram 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 oflife. 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.
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UR  - https://doi.org/10.17517/ksutfd.878579
L1  - https://dergipark.org.tr/en/download/article-file/1571113
ER  -