Background Inherited kidney diseases are one of the leading causes of chronic kidney
disease (CKD) that manifests before the age of 30 years. Precise clinical diagnosis of early …

Methods In this prospective cohort study, we undertook genetic testing in adults with
suspected GKD according to prespecified criteria. Over 7 years, patients were referred from …

Inherited kidney diseases (IKDs) are among the leading causes of early-onset chronic
kidney disease (CKD) and are responsible for at least 10–15% of cases of kidney …

Background Often only chronic kidney disease (CKD) patients with high likelihood of genetic
disease are offered genetic testing. Early genetic testing could obviate the need for kidney …

Background The clinical diagnosis of genetic renal diseases may be limited by the
overlapping spectrum of manifestations between diseases or by the advancement of …

Background Gene identification of hereditary kidney diseases by DNA sequencing is
important for precise diagnosis, treatment, and genetic consultations. However, the …

Introduction: Chronic kidney disease (CKD) is a major public health issue in the USA.
Identification of monogenic causes of CKD, which are present in∼ 10% of adult cases, can …

The primary causes of chronic kidney disease (CKD) in children differ from those of CKD in
adults. In the USA the most common diagnostic groups of renal disease that manifest before …

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 …

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 …