Table of Contents

HK J Paediatr (New Series)
Vol 20. No. 3, 2015

HK J Paediatr (New Series) 2015;20:172-175

Case Report

A Rare Genetic Disorder in Juvenile Diabetes: Wolfram Syndrome - Case Report
幼年糖尿病中一種罕見遺傳病:Wolfram綜合徵 - 病例報導

YH Liao, YL Ko, LP Tsai


Abstract

Wolfram syndrome is a hereditary autosomal recessive disease with an estimated prevalence of 1/550,000 in children. The mutations of the Wolfram syndrome 1 gene, which encodes Wolframin are responsible for the majority of cases of Wolfram syndrome. In this case report, a 16-year-old young man with a medical history of diabetes mellitus and bilateral blindness secondary to optic atrophy presented with severe hyperglycaemia without ketoacidosis. Polyuria secondary to partial neurologic diabetes insipidus, primary hypogonadism and bilateral sensorineural hearing loss were also identified. The genetic diagnosis of Wolfram syndrome was ultimately confirmed through genetic studies of patient and his mother. With the knowledge of Wolfram syndrome being a rare genetic disorder causing juvenile non-autoimmune diabetes, the early diagnosis is imperative to provide proper early managements. With genetic analysis of patient with suspected features, the early diagnosis becomes an achievable reality.

Wolfram綜合徵是一種常染色體隱性遺傳性疾病,兒童中發病率約為1/550,000。Wolfram綜合徵1基因突變是導致大多數病例的原因。在該病例報導中,一個具有糖尿病以及視神經萎縮,導致雙側視盲病史的16歲男性青少年,表現為嚴重高糖血症、不伴酮症酸中毒,以及神經性尿崩症所致多尿、原發性腺功能減退與雙側感音神經性聽力損失。通過對患兒及母親遺傳學檢查證實患兒具有該病。鑒於Wolfram綜合徵是一種導致幼年非免疫介導糖尿病的罕見遺傳性疾病,早期確診對於適時針對性治療是非常重要的。對具有可疑臨床特徵的患者進行遺傳學分析,將有助及早斷症。

Keyword : Juvenile diabetes; Optic atrophy; Wolfram syndrome

關鍵詞:幼年糖尿病、視神經萎縮、Wolfram綜合徵

 
 

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