肾病型胱氨酸病一例报告并文献复习

Nephrotic Cystine Disease: A Case Report And Literature Review

目的 回顾性分析1例确诊肾病型胱氨酸病(nephrotic cystine disease)患儿的诊疗过程以及随访情况,提高临床医师对该病的认识,减少漏诊及误诊。方法结合文献分析2022年1月新疆石河子大学第一附属医院儿科收治的1例肾病型胱氨酸病患儿的临床资料。结果患儿,男,1岁8月,以肾小管性酸中毒为首发表现,基于家系的外显子组基因检测发现基因CTNS杂合变异:c.329+2T>C,c.582C>G(p.Tyr194Ter),并通过一代测序验证。基于ACMG指南该变异可被判定为可能致病(likely pathogenic)。结论对于肾小管酸中毒并伴有生长发育落后的患儿,应尽早行CTNS基因检测以明确诊断。

Objective To retrospectively analyze the diagnosis,treatment,and follow-up of a confirmed child with nephrotic cystine disease,in order to improve clinical physicians'understanding of the disease and reduce missed diagnosis and misdiagnosis.Method Based on literature analysis,the clinical data of a child with nephrotic cystine disease admitted to the Pediatric Department of the First Affiliated Hospital of Xinjiang Shihezi University in January 2022 were analyzed.Result The patient,male,aged 1 year and 8 months,presented with renal tubular acidosis as the initial manifestation.Based on the exome gene testing of the family,a heterozygous variation in the gene CTNS was found:c.329+2T>C,c.582C>G(p.Tyr194Ter),which was confirmed through first-generation sequencing.Based on the ACMG guidelines,this mutation can be determined as potentially pathogenic.Conclusion For children with renal tubular acidosis accompanied by delayed growth and development,CTNS gene testing should be performed as early as possible to clarify the diagnosis.