A case report of CRB2 mutation identified in a Chinese boy with focal segmental glomerulosclerosis. Issue 37 (September 2018)

• Record Type: Journal Article
• Authors: Fan, Jiaojiao; Fu, Rong; Ren, Fuxian; He, Junjie; Wang, Shujing; Gou, Mengfan
• Other Names: NA. section editor.
• Is Part Of: Medicine. Volume 97:Issue 37(2018)
• Publication Date: 2018-09
• Subjects: crumbs homolog 2 -- focal segmental glomerulosclerosis -- mutation -- whole exome sequencing; Medicine -- Periodicals; Medicine -- Periodicals; Médecine -- Périodiques; Geneeskunde; Medicine; Periodicals; Periodicals; 610.5
• DOI: 10.1097/MD.0000000000012362
• Languages: English
• ISSNs: 0025-7974

Abstract

Abstract: Rationale: Focal segmental glomerulosclerosis (FSGS) is a common disease resulting in end-stage renal disease. The incidence of FSGS is increasing in Western countries. The clinical manifestations include proteinuria, hypoproteinemia, oedema, and hypertension. Single-gene heritable mutations are considered to be the source of FSGS pathogenicity according to recent in-depth studies on the pathogenesis. Here, we first reported the case of a Chinese boy whose histology presented with FSGS caused by a compound heterozygous mutation. Patient concerns: A 7-year-old Chinese boy was repeatedly admitted to our hospital for fever, cough, and proteinuria since he was 1.6 years old. Diagnoses: FSGS was identified by renal biopsy. Whole exome sequencing (WES) showed that a novel mutation of crumbs homolog 2 (CRB2) was identified in a Chinese boy with FSGS. Interventions: Patient was treated with low-dose corticosteroid and mycophenolate mofetil for maintenance therapy. Outcomes: At last follow-up, protein (+∼++) was observed in his urinalysis. Lessons: We identified a novel mutation of CRB2 in a Chinese boy with FSGS that had never been described in a previous report. These findings suggested that mutations in recessive disease genes are more frequent among early-onset disease.