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

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 …

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 …

Nephronophthisis - Abstract - Europe PMC Sign in | Create an account https://orcid.org Europe
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Kidney disease is a global health burden with high morbidity and mortality. Causes of kidney
disease are numerous, extending from common disease groups like diabetes and arterial …

Protein-truncating variants in α-1, 3-glucosyltransferase (ALG8) are a risk factor for a mild
cystic kidney disease phenotype. The association between these variants and liver cysts is …

Polycystic kidney diseases are a group of monogenically inherited disorders characterized
by cyst development in the kidney with defects in primary cilia function central to …

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

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 …

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