Persistent hyperinsulinemic hypoglycemia of infancy due to homozygous KCNJ11 (T294M) mutation.
Hyperinsulinemic hypoglycemia is the most common cause of persistent hypoglycemia in infancy. While most of the cases are sporadic more than 100 mutations have been reported in the familial type. The authors report a case of familial hyperinsulinemic hypoglycemia with homozygous T294M mutation of the KCNJ11 gene, which responded to diazoxide therapy.
Ilamaran
V
V
Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Pudhucherry, India. dr_ilamaran@yahoo.co.in
Venkatesh
C
C
Manish
K
K
Adhisivam
B
B
D000959:Antihypertensive Agents / Q000627:therapeutic use; D044903:Congenital Hyperinsulinism / Q000188:drug therapy / Q000235:genetics*; D003981:Diazoxide / Q000627:therapeutic use; D005260:Female; D006720:Homozygote; D006801:Humans; D007194:India; D007231:Infant, Newborn; D009154:Mutation; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D000099161:Kcnj11 Channel
D000959:Antihypertensive Agents; D003981:Diazoxide; D024661:Potassium Channels, Inwardly Rectifying; D000099161:Kcnj11 Channel