Steroid-resistant nephrotic syndromeassociated with LAMB2 gene mutation
YANG Feng-jie, ZHOU Jian-hua,QIU Li-ru
YANG Feng-jie, ZHOU Jian-hua,QIU Li-ru(The nephrology division of Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology,Wuhan 430030,China
Abstract: Objective The aim of this study was to improve understanding evaluate know more about the steroid resistance nephrotic syndrome and Pierson syndrome from the case of a male patient of steroidresistance nephrotic syndrome with LAMB2 mutations but without the ocular abnormality. Method Biopsy and the next generation sequencingwere performed in the 8-year-old boy presenting with steroid-resistance nephrotic syndrome.Results Laboratory data showed that total serum albumin 24.0 g/L, total cholesterol 15.46 mmol/L, and 24 hours urine protein was 4329.9 mg. Renal biopsy showed focal segmental glomerular sclerosis(FSGS). Ophthalmic examination didn't indicate any abnormity. Multitarget-treatment was given, but the patient continues having the massive proteinuria and hypoproteinemia. The novel compound heterozygous mutations of LAMB2 [c.4370G>A (p.R1457Q) and c.3325G>A(p.E1109K)]were found by the next generation sequencing (NGS) of 21 genes for congenital nephrotic syndrome and thereafter confirmed by Sanger sequencing. Conclusions The novel compound heterozygous LAMB2 mutation was seen in the case of SRNS. Gene mutations should be taken into considering to those patients with steroid resistant nephritic syndrome or nephrotic range proteinuria regardless of accompanying extrarenal abnormalities..
2015, Vol. 3 
