Chandra Sudhish, Verma Rita
Neonatal Division, Rainbow Babies and Children Hospital, Case Western Reserve University, Cleveland, OH, USA.
J Perinatol. 2004 Mar;24(3):196-9. doi: 10.1038/sj.jp.7211026.
We describe a case of congenital nephrolithiasis, which presented with hematuria at birth. No etiopathological factor could be determined for renal stone formation despite extensive investigation. There was a family history of renal stones in both maternal and paternal grandparents and of microscopic hematuria in the mother. There was no associated urinary flow obstruction and the hematuria remitted spontaneously. The infant was treated conservatively. The follow-up studies revealed persistence of renal stone but no hematuria. This case can be considered as idiopathic, or an early presentation of one of the rare genetic disorders associated with renal stones. Congenital nonobstructive nephrolithiasis has not been reported previously and should be considered as a cause of hematuria during this age.
我们描述了一例先天性肾结石病例，该病例出生时即出现血尿。尽管进行了广泛检查，但仍无法确定肾结石形成的病因病理因素。患儿的外祖父和外祖母均有肾结石家族史，其母亲有镜下血尿病史。未发现相关的尿路梗阻，血尿自行缓解。该婴儿接受了保守治疗。随访研究显示肾结石持续存在，但无血尿。该病例可被视为特发性，或为与肾结石相关的罕见遗传疾病之一的早期表现。先天性非梗阻性肾结石此前未见报道，应被视为该年龄段血尿的一个病因。
