Open AccessA woman with a dual genetic diagnosis of autosomal dominant tubulointerstitial kidney disease and KBG syndrome
Author(s) -
Yu Tanaka,
Naoya Morisada,
Tomohiro Suzuki,
Yoshitaka Ohashi,
Ming Juan Ye,
Kandai Nozu,
Satoru Tsuruta,
Kazumoto Iijima
Publication year - 2020
Publication title -
cen case reports
Language(s) - English
Resource type - Journals
ISSN - 2192-4449
DOI - 10.1007/s13730-020-00543-0
Subject(s) - medicine , proband , genetic testing , intellectual disability , nephrology , kidney disease , hyperuricemia , disease , pediatrics , genetic counseling , dermatology , mutation , genetics , uric acid , psychiatry , gene , biology
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.