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

Autor: 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
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Journal of Diabetes Investigation, Vol 13, Iss 5, Pp 923-926 (2022)
Druh dokumentu: article
ISSN: 2040-1124
2040-1116
DOI: 10.1111/jdi.13737
Popis: 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.
Databáze: Directory of Open Access Journals
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