Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a clinical entity defined by
interstitial fibrosis with tubular damage, bland urinalysis and progressive kidney disease …

Hepatocyte nuclear factor-1β (HNF-1β) is a DNA-binding transcription factor that is essential
for normal kidney development. Mutations of HNF1B in humans produce cystic kidney …

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 …

The clinical characteristics of autosomal dominant tubulointerstitial kidney disease (ADTKD)
include bland urinary sediment, slowly progressive chronic kidney disease (CKD) with many …

Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) is caused by mutations in
one of at least five genes and leads to kidney failure usually in mid adulthood. Throughout …

Background: Renal biopsy is the mainstay of renal pathological diagnosis. Despite
sophisticated diagnostic techniques, it is not always possible to make a precise pathological …

Polycystic kidney diseases (PKDs) comprise the most common Mendelian forms of renal
disease. It is characterised by the development of fluid-filled renal cysts, causing progressive …

Hereditary chronic kidney disease (CKD) appears to be more frequent than the clinical
perception. Exome sequencing (ES) studies in CKD cohorts could identify pathogenic …

Autosomal dominant tubulo-interstitial kidney disease (ADTKD) is a recent entity that
includes rare kidney diseases characterised by progressive tubule interstitial fibrosis and …

Objectives: Identify the etiology of autosomal dominant tubulointerstitial kidney disease.
Describe the appropriate evaluation of autosomal dominant tubulointerstitial kidney disease …