Renal Failure in Two Patients with Wolfram Syndrome
Renal Failure in Two Patients with Wolfram Syndrome
复制标题
两名 Wolfram 综合征患者的肾衰竭
DOI：
10.1515/jpem.1997.10.6.645
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发表时间：
1997
影响因子：
1.4
通讯作者：
T. Laohapand
中科院分区：
文献类型：
--
作者：
A. Sumboonnanonda;A. Vongjirad;V. Suntornpoch;K. Angsusingha;P. Parichatikanond;T. Laohapand
我们描述了一个泰国家庭的三个孩子，其中两人提出与Wolfram综合征，这是一种罕见的综合征的特点是尿崩症，糖尿病，视神经萎缩，耳聋和尿路扩张。一个女孩和她的弟弟在11岁时患有胰岛素依赖型糖尿病，早期出现肾损害、蛋白尿和高血压。两例患者均表现为尿路扩张。肾活检符合糖尿病肾病。这两个孩子也有双侧感音神经性听力损失。女孩患有视神经萎缩伴严重视力丧失，其兄弟患有双侧白内障。两例患者均为HLA DR 2阳性。16岁时，肌酐清除率为16 ml/min/1.73 m2。她哥哥13岁时的肌酐清除率为25 ml/min/1.73 m2。我们的结论是，肾功能应评估患者的Wolfram综合征和肾功能衰竭的原因，这些患者可能是快速和严重的糖尿病肾病。
We describe a Thai family with three children, two of whom presented with Wolfram syndrome, which is a rare syndrome characterised by diabetes insipidus, diabetes mellitus, optic atrophy, deafness and urinary tract dilatation. A girl and her younger brother had insulin-dependent diabetes mellitus at 11 years old with early onset of renal impairment, proteinuria and hypertension. Urinary tract dilatation was demonstrated in both patients. Kidney biopsies were compatible with diabetic nephropathy. Both children also had bilateral sensorineural hearing loss. Optic atrophy with severe loss of vision was detected in the girl and bilateral cataract in her brother. Both patients were HLA DR2 positive. At 16 years old, her creatinine clearance was 16 ml/min/1.73 m2. Her brother's creatinine clearance was 25 ml/min/1.73 m2 at 13 years old. We conclude that renal function should be evaluated in patients with Wolfram syndrome and the cause of renal failure in these patients may be rapid and severe diabetic nephropathy.