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J Diabetes Investig. 2021 Dec 20; doi: 10.1111/jdi.13737. Epub 2021 Dec 20.

Maturity-onset diabetes of the young type 5, presenting as diabetic ketoacidosis with alkalemia: A report of a case.

Journal of diabetes investigation

Akiko Hayakawa-Iwamoto, Daisuke Aotani, Yuki Shimizu, Shota Kakoi, Chie Hasegawa, Shunsuke Itoh, Asami Fujii, Katsushi Takeda, Takashi Yagi, Hiroyuki Koyama, Kenro Imaeda, Kandai Nozu, China Nagano, Hiromi Kataoka, Tomohiro Tanaka

Affiliations

  1. Department of Gastroenterology and Metabolism, Graduate School of Medical Sciences and Medical School, Nagoya City University, Nagoya, Japan.
  2. Department of Endocrinology and Diabetes, Nagoya City University West Medical Center, Nagoya, Japan.
  3. Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

PMID: 34931465 DOI: 10.1111/jdi.13737

Abstract

A 34-year-old man visited our Department of Gastroenterology and Metabolism, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan, because of dry mouth and weight loss. His plasma glucose level was 32.8 mmol/L and serum levels of ketone bodies were increased, but with metabolic alkalemia. He was also suffering from renal tubular hypomagnesemia and hypokalemia. Abdominal computed tomography showed bilateral renal cysts. These findings were suggestive of maturity-onset diabetes of the young type 5. Genetic testing showed heterozygous hepatocyte nuclear factor 1 beta gene deletion. In the present case, it seemed reasonable to view hepatocyte nuclear factor 1 beta gene deletion as the common cause of maturity-onset diabetes of the young type 5-associated diabetic ketoacidosis and tubular malfunction-induced hypokalemic alkalosis. This case exemplifies the importance of hepatocyte nuclear factor 1 beta gene abnormality as a potential cause of diabetic ketoacidosis with alkalemia.

© 2021 The Authors. Journal of Diabetes Investigation published by Asian Association for the Study of Diabetes (AASD) and John Wiley & Sons Australia, Ltd.

Keywords: HNF1B ; Diabetic ketoacidosis with alkalemia; Maturity-onset diabetes of the young type 5

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