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

paythelady.612 shared this article with you from Inoreader <em>Crumbs homolog 2</em> mutation in two siblings with steroid-resistant nephrotic syndrome: Two case reports Μέσω pubmed: "world j clin cases"... World J Clin Cases. 2021 May 6;9(13):3056-3062. doi: 10.12998/wjcc.v9.i13.3056. ABSTRACT 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 age nts (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. PMID:33969091 | PMC:PMC8080757 | DOI:10.12998/wjcc.v9.i13.3056 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.