目的　探讨儿童Lowe 综合征的临床特点和基因特征。方法　分析2例Lowe 综合征患儿的临床资料和OCRL基因检测结果，并复习相关文献。结果　2例患儿均为男性，均存在小分子蛋白尿、高钙尿症、佝偻病和肾结石。例2患儿还有轻度代谢性酸中毒、糖尿和隐睾症。例1患儿生后不久发现有视力异常和先天性白内障，并行手术治疗，同时存在精神运动发育落后，头颅磁共振成像（MRI）示胼胝体发育不良。例2患儿就诊时肾外症状不明显，但眼科检查发现有先天性白内障，头颅MRI示脑发育低下、脑白质髓鞘化延迟，且随访过程中逐渐出现智力发育落后。OCRL基因检测发现2个突变，例1为剪切位点突变NG 008638.1:g.46846-46848delTAA/insC，例2为缺失移码突变NM000276.3:c.321delC，两种突变以前文献均未报道。结论　Lowe 综合征的诊断主要通过临床表现和OCRL基因检测，对于有先天性白内障、肾小管病变的患儿需要与Lowe综合征鉴别。本研究发现2个OCRL基因的新突变。

Objective To study the clinical and genetic features of Lowe syndrome. Methods The clinical data and test results of OCRL gene from two children with Lowe syndrome were analyzed. The related literatures were reviewed. Results Two male patients all presented with low molecular proteinuria, hypercalciuria, rickets and nephrolithiasis. Patient 2 had renal tubular acidosis, glycosuria and cryptochism. Patient 1 was found to have abnormal vision and congenital cataract soon after birth and treated surgically. Patient 1 also had psychomotor retardation and the cranial magnetic resonance imaging (MRI) showed agenesis of the corpus callosum. Patient 2 did not have obviously extra-renal symptoms, but was found to have mild cataract by a meticulous ophthalmological examination. MRI showed cerebral hypoplasia and myelination delay and mental retardation was gradually appeared during follow-up. Two OCRL gene mutations were detected. A splice site mutation NG_008638.1:g.46846-46848delTAA/insC was found in patient 1 and a frame shift mutation NM_000276.3:c.321delC in exon 5 was found in patient 2. Both mutations were not reported previously. Conclusions The diagnosis of Lowe syndrome is mainly by clinical manifestations and test of OCRL gene. Lowe syndrome needs to be included in the differential diagnosis of a patient with congenital cataract and renal tubulopathy. Two novel mutations in the OCRL gene were identified.