Department of Pediatrics, Lady Hardinge Medical College and associated Kalawati Saran Children's Hospital, New Delhi, 110001, India.
Indian J Pediatr. 2010 Dec;77(12):1429-31. doi: 10.1007/s12098-010-0215-x. Epub 2010 Oct 2.
The authors describe a 14-yr-old boy who presented with non-ketotic hyperglycemia, elevated serum creatinine levels and deranged liver function. There was no microalbuminuria or proteinuria. He also had mild mental retardation with learning difficulties. Ultrasonography of the abdomen revealed multiple renal cysts of varying sizes in both the kidneys. Dosage analysis of the hepatocyte nuclear factor (HNF)-1β gene by multiplex ligation-dependent probe amplification (MLPA) detected a heterozygous whole gene deletion (p.Met1_Trp557del). This finding is consistent with the diagnosis of renal cysts and diabetes (RCAD) syndrome. This is the first case of the RCAD syndrome reported in an Indian patient. Pediatricians need to be aware of this entity whenever renal disease is seen in a diabetic child in the absence of microalbuminuria or proteinuria.
作者描述了一名 14 岁男孩，其表现为非酮症高血糖、血清肌酐水平升高和肝功能异常。无微量白蛋白尿或蛋白尿。他还有轻度智力障碍和学习困难。腹部超声显示双侧肾脏有多个大小不一的肾囊肿。通过多重连接依赖性探针扩增（MLPA）对肝细胞核因子（HNF）-1β 基因进行剂量分析，发现杂合子全基因缺失（p.Met1_Trp557del）。这一发现与肾囊肿和糖尿病（RCAD）综合征的诊断一致。这是首例在印度患者中报告的 RCAD 综合征病例。儿科医生在遇到无微量白蛋白尿或蛋白尿的糖尿病儿童出现肾脏疾病时，需要意识到这一疾病实体。
