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

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 …

Rationale & Objective Alport syndrome is a common genetic kidney disease accounting for
approximately 2% of patients receiving kidney replacement therapy (KRT). It is caused by …

Background The pathophysiological causes of kidney disease are not fully understood. Here
we show that the integration of genome-wide genetic, transcriptomic, and proteomic …

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an increasingly recognized
cause of end-stage kidney disease, primarily due to mutations in UMOD and MUC1. The …

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 …

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 …

In genomic medicine, the concept of genetically transitional disease (GTD) refers to cases in
which gene mutation is necessary but not sufficient to cause disease. In this Perspective, we …

Gout is a chronic metabolic disease that seriously affects human health. It is also a major
challenge facing the world, which has brought a heavy burden to patients and society …

Monoallelic mutations of DNAJB11 were recently described in seven pedigrees with atypical
clinical presentations of autosomal dominant polycystic kidney disease. DNAJB11 encodes …