Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset
multisystem disorder characterized by bilateral kidney cysts, liver cysts, and an increased …

Polycystic kidney diseases (PKDs) are genetic disorders characterized by the formation and
expansion of numerous fluid-filled renal cysts, damaging normal parenchyma and often …

Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic
cause of kidney failure and is primarily associated with PKD1 or PKD2. Approximately 10 …

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The clinical characteristics of autosomal dominant tubulointerstitial kidney disease (ADTKD)
include bland urinary sediment, slowly progressive chronic kidney disease (CKD) with many …

α-1, 2-mannosyltransferase (ALG9) germline variants are linked to autosomal dominant
polycystic kidney disease (ADPKD). Many individuals affected with ADPKD possess …

Cystic kidney diseases, when broadly defined, have a wide differential diagnosis extending
from recessive diseases with a prenatal or pediatric diagnosis, to the most common …

Polycystin-1 (PC1) is an 11-transmembrane (TM) domain-containing protein encoded by the
PKD1 gene, the most frequently mutated gene leading to autosomal dominant polycystic …

There is a broad phenotypic spectrum of monogenic polycystic kidney diseases (PKD).
These disorders often involve cilia-related genes and lead to the development of fluid-filled …

Background Cystic kidney disease (CyKD) is a predominantly familial disease in which gene
discovery has been led by family-based and candidate gene studies, an approach that is …