胱氨酸病婴儿型(肾病型)1例报告并文献复习  

Infantile cystinosis(nephropathy):a case report and literature review

作　　者：崔洁媛[1] 葛兰兰[1] 张东风[1] 刘玲[1] 韩佩桐 袁晓颖[1] CUI Jieyuan;GE Lanlan;ZHANG Dongfeng;LIU Ling;HAN Peitong;YUAN Xiaoying(Department of Nephrology and Immunology,Children’s Hospital of Hebei Province,Shijiazhuang 050031,Hebei,China)

机构地区：[1]河北省儿童医院肾脏免疫科,河北石家庄050031

出　　处：《临床儿科杂志》2021年第12期909-911,共3页Journal of Clinical Pediatrics

摘　　要：目的总结1例婴儿型胱氨酸病的临床特点,以提高临床医师对该病的认识。方法回顾性分析1例婴儿型胱氨酸病的临床特点。结果患儿,男,2岁。因身高增长缓慢1年余,双下肢无力3个月收治入院。患儿临床主要表现为体格发育落后、双下肢无力、佝偻病,辅助检查示代谢性酸中毒、低磷血症、糖尿、酮症、泛氨基酸尿、小分子蛋白尿及高钙尿症,临床诊断为范可尼综合征,基因变异分析示CTNS基因复合杂合变异,一个为剪接变异c.140+1G>C(父源),另一为错义变异c.969C>G(p.N 323K,母源),明确诊断胱氨酸病(婴儿型)。结论胱氨酸病以婴儿型多见,临床首发表现主要为体格发育落后和尿检查异常,临床多诊断为范可尼综合征。Objective To summarize the clinical characteristics of a case of infantile cystinosis in order to improve clinicians'understanding of the disease.Method The clinical features of one case of infantile cystinosis were retrospectively analyzed.Results A 2-year-old boy was admitted to hospital due to growth retardation in height for more than 1 year and weakness of lower extremities for 3 months.The boy presented with physical development retardation,lower extremities weakness,rickets,metabolic acidosis,hypophosphatemia,glycosuria,ketonuria,aminoaciduria,low-molecular-weight proteinuria and hypercalciuria.Genetic variation analysis showed complex heterozygous variation of CTNS gene.One was a splicing variation of c.140+1G>C from the father,and the other was a missense variation of c.969C>G(p.N323K)from the mother,and the child was diagnosed as cystinosis(infantile type).Conclusions Infantile cystinosis is more common in infant,and the first clinical manifestations are mainly physical retardation and abnormal urine examination.Clinically,it was often misdiagnosed as Fanconi syndrome.

关 键 词：胱氨酸病 肾病 婴儿型 

分 类 号：R726.9[医药卫生—儿科]