Helping nephrologists find answers: hyperinsulinism and tubular dysfunction: Questions

Excerpt

A term female infant was born via C-section to a mother with polycystic ovarian syndrome and a prolactinoma. Postnatal examination showed macrosomia (birth weight 4 kg), mild hirsutism on both ears, and a cherubic face. The remainder of the examination was normal. The patient presented with hypoglycemia at 2 h of life. Although the serum glucose value initially normalized with a dextrose infusion, she ultimately required diazoxide (6 mg/kg/day) to maintain normoglycaemia, suggesting a diagnosis of congenital hyperinsulinism (CHI). Attempts to wean the diazoxide dose were unsuccessful. An initial gene panel was sent at 3 months of age and was negative for the genes commonly associated with CHI (ABCC8, GCK, and KCNJ11). She continued on diazoxide therapy, and her clinical course remained unremarkable until the age of 2. …