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 …

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 …

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 …

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 …

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

Cardiovascular disease is the major cause of mortality in autosomal dominant polycystic
kidney disease and contributes to significant burden of disease. The manifestations are …

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 …

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

Rationale: Due to next-generation sequencing, variants in new genes such as DNAJB11 are
recently being identified as causing atypical autosomal dominant polycystic kidney disease …