Treatment of a case of severe insulin resistance as a result of a PIK3R1 mutation with a sodium–glucose cotransporter 2 inhibitor |
| |
Authors: | Tetsushi Hamaguchi Yushi Hirota Takehito Takeuchi Yasushi Nakagawa Atsuko Matsuoka Masaaki Matsumoto Hiroyuki Awano Kazumoto Iijima Pei Chieng Cha Wataru Satake Tatsushi Toda Wataru Ogawa |
| |
Institution: | 1. Division of Diabetes and Endocrinology, Tokyo, Japan;2. Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan;3. Division of Neurology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe, Japan;4. Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan |
| |
Abstract: | A Japanese woman aged in her late 30s with severe insulin resistance and bodily features including a triangular face, prominent forehead, small chin, large and low‐set ears, and ocular depression was investigated. A similar phenotype was not observed in other family members with the exception of her son, suggesting that the condition was caused by a de novo mutation that was transmitted from mother to son. Exome analysis showed the presence in the proband and her son of a c.1945C>T mutation in PIK3R1, a common mutation associated with SHORT (short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay) syndrome. Administration of a sodium–glucose cotransporter 2 inhibitor lowered the proband's hemoglobin A1c level and allowed a reduction in her insulin dose without treatment‐related adverse events including ketoacidosis, exaggerated loss of body mass or hypoglycemia. Sodium–glucose cotransporter 2 inhibitors might thus offer an additional option for the treatment of genetic syndromes of severe insulin resistance. |
| |
Keywords: | Insulin resistance Mutation
PIK3R1
|
|
|