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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 (MODY) 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, 1 Kawasumi, Mizuho-cho, Mizuho-ku, Nagoya, 467-8601, Japan.
  2. Department of Endocrinology and Diabetes, Nagoya City University West Medical Center, 1-1-1, Hirate-cho, Kita-ku, Nagoya, 462-8508, Japan.
  3. Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-2 Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan.

PMID: 34931465 DOI: 10.1111/jdi.13737

Abstract

A 34-year-old man visited our hospital 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 CT revealed bilateral renal cysts. These findings were suggestive of maturity-onset diabetes of the young (MODY) type5. Genetic testing revealed heterozygous hepatocyte nuclear factor 1 beta (HNF1B) gene deletion. In the present case, it seemed reasonable to view HNF1B gene deletion as the common cause of MODY5-associated diabetic ketoacidosis and tubular malfunction-induced hypokalemic alkalosis. This case exemplifies an importance of HNF1B gene abnormality as a potential cause of diabetic ketoacidosis with alkalemia.

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Keywords: HNF1B ; Diabetic ketoacidosis with alkalemia; MODY5

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