Crumbs homolog 2 mutation in two siblings with steroid-resistant nephrotic syndrome:Two case reports  

作　　者：Jing Lu Yan-Nan Guo Li-Qun Dong 

机构地区：[1]Department of Pediatrics,West China Second University Hospital,Sichuan University,Chengdu 610041,Sichuan Province,China

出　　处：《World Journal of Clinical Cases》2021年第13期3056-3062,共7页世界临床病例杂志

摘　　要：BACKGROUND Crumbs homolog 2(CRB2)is a recently discovered gene that is closely related to the maintenance of normal polarity in podocytes;mutations can directly lead to steroid-resistant nephrotic syndrome(SRNS).However,the characteristics of nephrotic syndrome(NS)caused by CRB2 mutations have not been described.CASE SUMMARY We report a novel compound heterozygous mutation of the CRB2 gene in two siblings with SRNS.The two siblings had edema,proteinuria,hypoproteinemia and hyperlipidemia.Both their father and mother had normal phenotypes(no history of NS).Whole exon sequencing(WES)of the family showed a novel compound heterozygous mutation,c.2290(exon 8)C>T and c.3613(exon 12)G>A.Glucocorticoid therapy(methylprednisolone pulse therapy or oral prednisone)and immunosuppressive agents(tacrolimus)had no effect.During a 3-year follow-up after genetic diagnosis by WES,proteinuria persisted,but the patient was healthy.CONCLUSION CRB2 mutations related to SRNS often occur in exons 7,10,and 12.Clinical manifestations of SRNS caused by CRB2 mutations are often less severe than in other forms of SRNS.

关 键 词：Steroid-resistant nephrotic syndrome Crumbs homolog 2 PROTEINURIA Compound heterozygous mutation GLOMERULOSCLEROSIS Renal biopsy Case report 

分 类 号：R692[医药卫生—泌尿科学]