LOẠN SẢN XƯƠNG MIỄN DỊCH SCHIMKE DO MỘT ĐỘT BIẾN MỚI PHÁT HIỆN Ở GEN SMARCAL1 Ở TRẺ HỘI CHỨNG THẦN HƯ KHÁNG STEROID - BÁO CÁO CA BỆNH

Abstract

Schimke immune-osseous dysplasia (SIOD) is a rare autosomal recessive disorder presenting with dysmorphic features, skeletal dysplasia, steroid resistance nephrotic syndrome (SRNS), and cellular immune insufficiency—mutations in the gene SMARCAL1. We report a 9-years old girl had a stroke and, her brain MRI showed new infarcts in the right cerebral hemisphere, edema, hypertension. She had a present short neck and trunk, hyperpigmented macules. She was referred to our department because of nephrotic syndrome – stroke- hypertension. After treating with prednisolone 2mg/kg/day, she was diagnosed SRNS. Her renal biopsied was global glomerulosclerosis. She was treated by angiotensin-converting enzyme (ACE) inhibitors, diuretics, amlodipine, and beta-blockers. But, she had maintained massive proteinuria and progressive loss of renal function. A homozygous variant was detected in the SMARCAL1 gene (c.1374C>A;p.Asp458Glu), which has not been reported in the mutation databases. In conclusion, we should find mutations of SMARCAL1 in children with SRNS, retardation, short neck and trunk.