Genetic analysis of Chinese childhood steroid resistant nephrotic syndrome

6^th Annual conference on Clinical & Pediatric Nephrology

May 09-10, 2016 New Orleans, USA

Jie Ding

Peking University First Hospital, China

Posters & Accepted Abstracts: J Nephrol Ther

Abstract :

Genetic steroid resistant nephrotic syndrome caused by at least 30 genes is an important cause of end stage renal disease. However, there is a scarcity of data for the frequency of single gene causes of childhood steroid resistant nephrotic syndrome in large cohorts of Chinese patients using targeting next generation sequencing. Using a multi-gene next generation sequencing panel of nephrotic syndrome related 28 genes, we performed genetic analysis of 120 patients from 5 centers in China with steroid resistant nephrotic syndrome manifested before 18 years of age. Disease causing mutations for ten genes were detected in 34/120 patients with the mutation detection rate of 28.3%. Of the 120 patients, 8 patients had ADCK4 mutations (6.67%), 7 patients had NPHS1 mutations (5.83%), 7 patients had WT1 mutations (5.83%), 4 patients had NPHS2 mutations (3.33%) and 8 patients had other 6 genes mutations together (6.67%). A de novo mutation in TRPC6 was detected in a patient with infantile onset nephrotic syndrome. The age of onset of ADCK4 nephropathy ranged from 1 month to 17 years. In conclusion, ADCK4 was the most frequent causative gene in Chinese childhood steroid resistant nephrotic syndrome and the mutation detection rate of NPHS2 was lower than that of literature data.

Biography :

Email: djnc_5855@126.com