A Case of New Familiar Genetic Variant of Autosomal Dominant Polycystic Kidney Disease-2: A Case Study

Frontiers in Pediatrics

Tetiana Litvinchuk¹ 

关键词: ADPKD;    PKD2 gene;    PKD1gene;    polycystin-2;    kidney disease;    genetic variant;   

DOI  :  10.3389/fped.2015.00082

学科分类：儿科学

来源: Frontiers

【 摘 要 】

BackgroundAutosomal dominant polycystic kidney disease (ADPKD) is characterized by renal cyst formation due to mutations in genes coding for polycystin-1 [PKD1 (85–90% of cases), on ch 16p13.3] and polycystin-2 [PKD2 (10–15% of cases), on ch 4q13-23] and PKD3 gene (gene unmapped). It is also associated with TSC2/PKD1 contiguous gene syndrome. ADPKD is usually inherited, but new mutations without a family history occur in approximately 10% of the cases.

【 授权许可】

CC BY