• Jiaojiao Fan, Rong Fu, Fuxian Ren, Junjie He, Shujing Wang, and Mengfan Gou.
• Department of Paediatrics, Affiliated Puyang Oilfield General Hospital, Xinxiang Medical University, Puyang, Henan, China.
• Medicine (Baltimore). 2018 Sep 1; 97 (37): e12362.

RationaleFocal 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 ConcernsA 7-year-old Chinese boy was repeatedly admitted to our hospital for fever, cough, and proteinuria since he was 1.6 years old.DiagnosesFSGS 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.InterventionsPatient was treated with low-dose corticosteroid and mycophenolate mofetil for maintenance therapy.OutcomesAt last follow-up, protein (+∼++) was observed in his urinalysis.LessonsWe 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.

12 keywords...

hide…