ESPE Abstracts (2014) 82 P-D-3-1-878

Clinical and Genetic Analysis of 95 Cases of Congenital Hyperinsulinism

Shuyue Huang, Chunxiu Gong, Chang Su, Zhan Qi, Di Wu, Bingyan Cao, Yi Gu, Wenjing Li, Min Liu & Xuejun Liang


Beijing Children’s Hospital, Beijing, China


Background: We want to know the clinical presentation and genetic mutation of congenital hyperinsulinism (CHI) patients in our country.

Objective and hypotheses: To investigate the clinical outcomes and gene mutations related to CHI in our patients.

Method: We studied the therapeutic outcomes of 95 cases of CHI and analyzed the associations between gene mutations and clinical features in 55 cases.

Results: Among all 95 CHI cases, 36 (38%) experienced misdiagnosis. 82 (86%) children were given diazoxide therapy based on an age-dependent feeding frequency, and 54 (66%) cases showed effective. Five patients were treated with octreotide for 1–4 months, and four showed a positive response. Non-surgical therapy was effective in 71 (75%) cases. Four children received subtotal pancreatectomy, and three had abnormal glucose metabolism. The side-effects of diazoxide treatment included: sodium and water retention in 55 (67%) cases, four cases showing intolerance; gastrointestinal reactions in 41 (50%) cases, eight intolerance and stopped; polytrichia in 25 (30%) cases; and thrombocytopenia in five cases. One patient complicated syndrome of inappropriate antidiuretic hormone. The remission rate of hypoglycemia was 59 and 71% for children over 2 and 3 years old respectively. Thirty-five (37%) patients had nervous complications. The identified gene mutation rate was 38% for CHI-related genes and 33% for K channel-related genes. Early onset and lower diazoxide respond rate were associated with gene mutations.

Conclusion: Therapeutic outcomes based on age-dependent feeding were positive but varied greatly with subtotal pancreatectomy. The effectiveness of non-surgical therapy may partially be the result of a low K channel gene mutation rate. Hence, we do not recommend operation before typing can be clarified.

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