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Journals / Kahramanmaraş Sütçü İmam Üniversitesi Tıp Fakültesi Dergisi / 2022 / Cilt: 17 - Sayı: 2

Wolfram (DIDMOAD) Syndrome: Case Report

Wolfram (DIDMOAD) Sendromu: Olgu Sunumu

Eda ALTUN
Saime PAYDAS
Bülent KAYA
İbrahim KARAYAYLALI
Pages
232–235
Publication Date
2022-07-15
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

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.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Abstract Wolfram syndrome is autosomal recessive dysmorphogenetical disease and it is characterized with the association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness.
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Key Findings & Data:Patients demonstrate neurological abnormalities, psychological disorders and urinary tract abnormalities.
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Conclusion & Impact: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.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Diabetes insipidus · Üriner sistem anomalileri · Wolfram sendromu

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.

Özet

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.

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Cite This Article

ALTUN, E., PAYDAS, S., KAYA, B., KARAYAYLALI, İ. (2022). Wolfram (DIDMOAD) Syndrome: Case Report. Kahramanmaraş Sütçü İmam Üniversitesi Tıp Fakültesi Dergisi, Cilt: 17 - Sayı: 2, 232–235. https://ajindex.com/articles/783147

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