A woman with a dual genetic diagnosis of autosomal dominant tubulointerstitial kidney disease and KBG syndrome
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CASE REPORT
A woman with a dual genetic diagnosis of autosomal dominant tubulointerstitial kidney disease and KBG syndrome Yu Tanaka1 · Naoya Morisada2,3 · Tomohiro Suzuki4,5 · Yoshitaka Ohashi4 · Ming Juan Ye2 · Kandai Nozu2 · Satoru Tsuruta1 · Kazumoto Iijima2 Received: 26 May 2020 / Accepted: 30 September 2020 © Japanese Society of Nephrology 2020
Abstract We present a female patient with a dual genetic diagnosis of autosomal dominant tubulointerstitial kidney disease and KBG syndrome. The proband was an 18-year-old woman presenting with intellectual disability, renal insufficiency, and hyperuricemia. Abdominal ultrasonography did not reveal any abnormalities. The patient’s father had been diagnosed with chronic kidney disease and hyperuricemia in his twenties; however, he had no intellectual disability. Her mother and two younger siblings were not affected. Next generation sequencing (NGS) identified mutations in UMOD (c.796T > C) of the proband and her father, and in ANKRD11 (c.1903_1907del) of the proband. Renal insufficiency and intellectual disability were attributed to mutations in UMOD and ANRKD11, respectively. When making genetic diagnoses, the presence of multiple mutations in an individual should be considered, particularly when not all symptoms could be attributed to a single disease. The number of patients with dual genetic diagnosis is expected to increase as NGS becomes more readily available; thus, making it necessary to undertake a careful and robust assessment of the clinical symptoms and the related genotypes, to ensure an accurate diagnosis. Keywords Dual genetic diagnoses · ANKRD11 · UMOD · CKD · Genetic counseling
Introduction
Electronic supplementary material The online version of this article (https://doi.org/10.1007/s13730-020-00543-0) contains supplementary material, which is available to authorized users. * Yu Tanaka [email protected] 1
Department of Pediatrics, Kobe City Medical Center General Hospital, 2‑1‑1, Minatojimaminami‑machi, Chuo‑ku, Hyogo 650‑0047, Japan
2
Department of Pediatrics, Kobe University Graduate School of Medicine, 7‑5‑1, Kusunoki‑cho, Chuo‑ku, Hyogo 650‑0017, Japan
3
Department of Clinical Genetics, Hyogo Prefectural Kobe Children’s Hospital, 1‑6‑7, Minatojimaminami‑machi, Chuo‑ku, Hyogo 650‑0047, Japan
4
Department of Cardiology, Ako City Hospital, Hyogo, Nakahiro, Ako 1090, Japan
5
Department of Internal Medicine, Izushi Medical Center, 1300, Fukusumi, Izushi‑machi, Hyogo 668‑0263, Japan
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare genetic kidney disease that is subjected to gene-based classification and terminology [1]. ADTKD is caused by mutations in UMOD, MUC1, HNF1B, REN, and SEC61A1. UMOD is the most common causative gene of ADTKD and is located on chromosome 16p12.3. ADTKDUMOD includes diseases previously referred to as familial juvenile hyperuricemic nephropathy, medullary cystic kidney disease 2, and uromodulin-associated kidney disease. Typical clinical findings of ADTKD-UMOD include slowly
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