Autosomal Dominant Tubulointerstitial Kidney Disease HNF1B With Maturity Onset Diabetes of the Young: a Case Report With Kidney Biopsy
2020
Abstract Autosomal dominant tubulointerstitial kidney disease subtype hepatocyte nuclear factor-1-beta (ADTKD-HNF1B) is a hereditary disease caused by variants of HNF1B that is characterized by a family history of tubulointerstitial nephropathy with concomitant diabetes mellitus. Here, we report on a Japanese man in his early 40s who was diagnosed with ADTKD-HNF1B. He had reduced glomerular filtration rate, borderline diabetes mellitus, multiple small cysts in his bilateral kidneys, and pancreatic hypoplasia. He also had a family history of diabetes and kidney cystic lesions. These phenotypes represent ADTKD-HNF1B and genetic analysis actually revealed a missense variant of HNF1B. Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in the tubular cells, a novel finding.
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