儿童原发性Ⅰ型高草酸尿症2例报告及文献复习

Primary hyperoxaluria typeⅠin children:a report of two cases and literature review

目的探讨原发性Ⅰ型高草酸尿症(PH Ⅰ)的临床特点、诊断及治疗。方法回顾分析2例PH Ⅰ患儿的临床表现、实验室检查结果,并对家系成员进行全外显子测序。结果 2例患儿发病年龄分别为2个月和1岁5个月,均有肾衰竭,伴不同程度贫血、肾石症等。全外显子测序发现2例患儿分别为AGXT基因c.815816GA纯合变异及c.2526 insC、c.815816 insGA复合杂合变异。确诊为PH Ⅰ后给予肾脏替代联合对症治疗。结论 PH Ⅰ无特异性临床表现,部分患儿肾衰竭进展迅速。

Objective To explore the clinical characteristics,diagnosis,and treatment of primary hyperoxaluria typeⅠ(PHⅠ).Method The clinical manifestations and laboratory examination results of PHⅠin 2 children were retrospectively analyzed,and whole exon sequencing was performed in family members.Results The ages at onset of the 2 children were 2 months and 1 year and 5 months respectively.Both had renal failure,accompanied by different degrees of anemia and nephrolithiasis.The homozygous variant of c.815_816GA was found in a child and the compound heterozygous variants of c.25_26 insC and c.815_816 insGA were found in another child in AGXT gene by whole exon sequencing.Kidney replacement combined with symptomatic treatment was performed after diagnosis of PHⅠ.Conclusion PHⅠhas no specific clinical manifestations,and renal failure is developed rapidly in some children.