Open AccessTreatment of a case of severe insulin resistance as a result of a PIK 3R1 mutation with a sodium–glucose cotransporter 2 inhibitor
Author(s) -
Hamaguchi Tetsushi,
Hirota Yushi,
Takeuchi Takehito,
Nakagawa Yasushi,
Matsuoka Atsuko,
Matsumoto Masaaki,
Awano Hiroyuki,
Iijima Kazumoto,
Cha Pei Chieng,
Satake Wataru,
Toda Tatsushi,
Ogawa Wataru
Publication year - 2018
Publication title -
journal of diabetes investigation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.089
H-Index - 50
eISSN - 2040-1124
pISSN - 2040-1116
DOI - 10.1111/jdi.12825
Subject(s) - medicine , insulin resistance , cotransporter , diabetes mellitus , mutation , sodium , insulin , endocrinology , pharmacology , biochemistry , gene , biology , chemistry , organic chemistry
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 PIK 3R1 , 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 A 1c 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.