Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a recently defined entity
that includes rare kidney diseases characterized by tubular damage and interstitial fibrosis …

Chronic kidney disease (CKD) is a major global health problem with an increasing
prevalence partly driven by aging population structure. Both genomic and environmental …

The overall diagnostic yield of massively parallel sequencing–based tests in patients with
chronic kidney disease (CKD) is 30% for paediatric cases and 6–30% for adult cases. These …

Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as
well as genes for complex kidney diseases that manifest in combination with environmental …

Nephronophthisis (NPH) is an autosomal recessive tubulointerstitial nephropathy belonging
to the ciliopathy disorders and known as the most common cause of hereditary end-stage …

Rationale & Objective Chronic kidney disease of unknown etiology (CKDUE) is one of the
main global causes of kidney failure. Genetic studies may identify an etiology in these …

A large fraction of early-onset chronic kidney disease (CKD) is known to be monogenic in
origin. To date,∼ 450 monogenic (synonymous with single-gene disorders) genes, if …

Expanded accessibility of genetic sequencing technologies, such as chromosomal
microarray and massively parallel sequencing approaches, is changing the management of …

Genetic kidney disease comprises a diverse group of disorders. These can roughly be
divided in the phenotype groups congenital anomalies of the kidney and urinary tract …

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary
cystic kidney disease, with patients often having a positive family history that is characterized …