Introduction Autosomal dominant polycystic kidney disease (ADPKD) is a well-described
condition in which∼ 80% of all cases have a genetic explanation, and among sporadic …

Autosomal dominant polycystic kidney disease (ADPKD) resulting from pathogenic variants
in PKD1 and PKD2 is the most common form of PKD, but other genetic causes tied to …

A precise diagnosis in medicine allows appropriate disease-specific management. Kidney
failure of unknown aetiology remains a frequent diagnostic label within the haemodialysis …

We provide an updated framework of evidence to guide application of genomic testing in
chronic kidney disease (CKD), building upon existing principles and knowledge to indicate …

Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in the
genes PKD1 and PKD2, encoding the membrane proteins polycystin-1 (PC1) and polycystin …

Cardiovascular disease (CVD) is a major cause of morbidity and mortality in autosomal
dominant polycystic kidney disease (ADPKD). While the current interventions are …

Polycystic kidney disease (PKD) has become recognized as a genetically and clinically
heterogeneous condition, with new disease genes being discovered upon atypical …

Cystic kidney disease (CyKD) is the commonest life-threatening monogenic disorder,
causing great morbidity and mortality. Whilst there is believed to be a strongly monogenic …

Primary ciliopathies are a group of inherited diseases caused by dysfunction or absence of
the primary cilia. They exhibit genetic heterogeneity, genetic pleiotropy and a wide spectrum …

Nephronophthisis-Related Ciliopathies - GeneReviews® - NCBI Bookshelf US flag An official
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