To study the clinical features and genetic diagnosis of autosomal dominant tubulointerstitial kidney diseases (ADTKD)-hepatocyte nuclear factor 1β (HNF1β).

In June, 2016, the hospital received a male child (12 years old) with renal failure and regular dialysis. Physicians collected the clinical and laboratory data in detail and performed gene detection with the second generation DNA sequencing technology. The genetic tests on the patient and his parents made use of their peripheral blood mononuclear cell genome DNA. The Sanger sequencing-based methods were used to search for gene mutations.

The child was "well" before, and had end-stage renal failure (ESRD) without any obvious incentives. The child patient was with normal development, no hematuria, mild proteinuria, severe anemia, and elevated liver enzymes. The urine protein electrophoresis showed a lot of predominant renal tubular protein (59.9%); the child also had renal glucosuria, and obvious urine increases of β-2 microglobulin and α-1 microglobulin, indicating substantial tubulointerstitial injury. The B-type ultrasonic and CT examinations showed multiple cysts in bilateral kidneys. The 163 genes which related to kidney diseases were checked. The gene sequencing results showed that the HNF1β had a hybrid mutation, c. 1413dupC (p.V472fsX78). His parents didn't have the mutation. So the child patient was diagnosed as ADTKD-HNF1β.

Mutation of HNF1β gene is one of the causative mutations of ADTKD. ADTKD-HNF1β can lead to significant renal tubular interstitial lesions, renal multiple cysts, and ESRD, as well as elevated liver enzymes. This is a de novo gene mutation, which has not been reported elsewhere.