摘要
收集分析1例Wolfram综合征患者的临床资料，并应用聚合酶链反应一脱氧核糖核酸直接测序对WFSl基因的8个外显子进行突变筛查。该患者为34岁女性，于2012年5月10日入院，入院前15年出现听力障碍，人院前8年出现口干、多饮、多食、多尿，抗谷氨酸脱羧酶抗体（GADA）和胰岛素自身抗体（IAA）检查阳性，诊断1型糖尿病，人院前1年出现视力下降，眼科检查考虑视神经萎缩，B超检查提示泌尿系损害，禁饮加压素检查排除尿崩症，测序发现WFSl基因外显子8第333位密码子发生错义突变（V333I），第611密码子也发生错义突变（A611V）。Wolfram综合征患者常以1型糖尿病为首发表现，但本例患者以听力障碍为始发症状，临床易误诊，因此对出现尿崩症、糖尿病、视神经萎缩和耳聋临床表现之一的患者应警惕Wolfram综合征。本研究发现的V333I突变点在人类基因突变数据库未收录，但该突变是否与疾病有关需进一步研究加以证实。
Clinical data of one patient with Wolfram syndrome were collected and eight exons of WFS1 gene were screened in this patient by using polymerase chain reaction （PCR）-DNA direct sequencing. A thirty-four aged female patient complained deafness for 15 years before admitted on May 10, 2012. Seven years after deafness, she found she had thirst, polydipsia, polyphagia and polyuria and the glutamic acid decarboxylase antibody （GADA）, anti-insulin antibody （IAA） were tested positive. She had impaired vision one year before admission and ophthalmic testing showed optic atrophy. Ultrasound revealed urinary tract injury. But this case didn＇t have diabetes insipidus at admission. Mutations of V333I and A61 IV, in the WFS1 gene were identified. The two homozygous mutation were in exon 8 of WFS1 gene in the patient. Wolfram syndrome usually presents type 1 diabetes as the first symptom. But the first symptom of this patient is deafness, which can easily lead to misdiagnosis. So if a patient have one of the symptoms of diabetes insipidus, type 1 diabetes, optic atrophy or deafness, wolfram syndrome should be considered. The mutation of WFS1 gene in this study is the first report of Wolfram syndrome with the mutation of V333I in the WFS1 ~ene in a Chinese patient, but it needs to be confirmed by further research.
出处
《中华糖尿病杂志》
CAS
CSCD
2014年第1期51-53,共3页
CHINESE JOURNAL OF DIABETES MELLITUS
基金
福建省卫生厅青年科研基金（2003-1-4）
