Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease.

ABSTRACT: The exponential rise in our understanding of the aetiology and pathophysiology of genetic cystic kidney diseases can be attributed to the identification of cystogenic genes over the last three decades. The foundation of this was laid by positional cloning strategies which gradually shifted towards next-generation sequencing (NGS) based screenings. This shift has enabled the discovery of novel cystogenic genes at an accelerated pace unlike ever before and, most notably, the past decade has seen the largest increase in identification of the genes which cause nephronophthisis (NPHP). NPHP is a monogenic autosomal recessive cystic kidney disease caused by mutations in a diverse clade of over 26 identified genes and is the most common genetic cause of renal failure in children. NPHP gene types

SUBMITTER: Gupta S 

PROVIDER: S-EPMC8623546 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature