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Persistent hyperinsulinemic hypoglycemia of infancy due to homozygous KCNJ11 (T294M) mutation |
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| Authors: | V. Ilamaran C. Venkatesh K. Manish B. Adhisivam |
| Affiliation: | (1) Department of Pediatrics, Ain Shams University, Cairo, Egypt;(2) Department of Pediatrics, Haukeland University Hospital, Bergen, Norway;(3) Department of Clinical Medicine, University of Bergen, Bergen, Norway;(4) Department of Pediatrics, Pediatric Endocrinology and Diabetes Unit, Ain Shams University, Cairo, 25 Ahmed Fuad St. Saint Fatima, Heliopolis, Cairo, 11361, Egypt; |
| Abstract: | 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. |
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