In:
Journal of Diabetes Investigation, Wiley, Vol. 9, No. 5 ( 2018-09), p. 1224-1227
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 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.
Type of Medium:
Online Resource
ISSN:
2040-1116
,
2040-1124
DOI:
10.1111/jdi.2018.9.issue-5
Language:
English
Publisher:
Wiley
Publication Date:
2018
detail.hit.zdb_id:
2542077-X
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