Wolfram综合征的临床特征

Clinical characteristics of Wolfram syndrome

摘要:

目的：Wolfram综合征是一种罕见的常染色体隐性遗传病，临床表现多样。该文旨在通过探讨Wolfram综合征的主要临床特征，进一步加强对该病的认识。方法：用回顾性分析方法，将该科收治的1例患儿，结合国内报道的8例患儿从发病年龄、临床特征进行总结分析。结果：①9例患儿均以1型糖尿病为首发表现，发病年龄最早3.0岁，平均为5.0岁；其中8例合并视神经萎缩，7例合并尿崩症，7例合并耳聋。视神经萎缩、尿崩症、耳聋的平均发病年龄分别为8.5岁，8.5岁和9.8岁；②临床诊断分类：7例同时存在视神经萎缩、耳聋、尿崩症者诊断为完全性Wolfram综合征；1例仅合并视神经萎缩，诊断为不完全性Wolfram综合征，另1例发病年龄尚早，但其哥哥为完全性Wolfram综合征；③其他表现： 6例存在生长落后，4例伴有中度以上肾积水。结论：Wolfram综合征患儿以1型糖尿病为首发表现，常伴有视神经萎缩、耳聋、尿崩症等多种并发症，而且出现时间不等，加强多学科的联系，可提高对该病的认识，避免临床漏诊和误诊。［中国当代儿科杂志，2009，11（2）：113-115］

Abstract:

OBJECTIVE: Wolfram syndrome (WFS) is a rare, autosomal recessive inherited disease characterized by various clinical manifestations. The aim of this study was to investigate clinical characteristics of WFS. METHODS: One case of WFS was reported. Combined with the clinical data of 8 cases of WFS which had been reported in China between 1994 and 2007, the clinical characteristics of WFS were reviewed. RESULTS: Insulin-dependent diabetes mellitus as the earliest manifestation was found in all of the 9 patients, with a median onset age of 5.0 years. Optic atrophy occurred in 8 patients (onset age: 8.5 years), diabetes insipidus in 7 patients (onset age: 8.5 years) and deafness in 7 patients (onset age: 9.8 years). Short stature was found in 6 patients and hydroureteronephrosis in 4 patients. CONCLUSIONS: Insulin-dependent diabetes mellitus was the first presentation in children with WFS. Optic atrophy, diabetes insipidus and deafness were common complications, with a various onset age.［Chin J Contemp Pediatr, 2009, 11 (2):113-115］