Maturity ‐onset diabetes of the young (MODY) type 5, presenting as diabetic ketoacidosis with alkalemia – A report of a case.

AbstractA 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 viewHNF1B gene deletion as the common cause of MODY5-associated diabetic ketoacidosis and tubular malfunction-induced hypokalemic alkalosis. This case exemplifies an importance ofHNF1B gene abnormality as a potential cause of diabetic ketoacidosis with alkalemia.

Source: Journal of Diabetes Investigation - December 21, 2021 Category: Endocrinology Authors: 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 Tags: CASE REPORT Source Type: research