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Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases

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机构: [1]Capital Med Univ, Beijing Childrens Hosp, Dept Pediat Endocrinol & Genet Metab, 56 South Lishi Rd, Beijing 100045, Peoples R China; [2]Capital Med Univ, Beijing Childrens Hosp, Dept Pediat, Beijing, Peoples R China; [3]Peking Union Med Coll, Inst Basic Med Sci, Beijing 100021, Peoples R China
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关键词: ABCC8 congenital hyperinsulinism diazoxide KCNJ11 octreotide potassium channel SIADH (syndrome of inappropriate antidiuresis) side effects

摘要:
Aim: The aim of this study is to investigate the clinical features, therapeutic outcomes, and genetic mutations of congenital hyperinsulinism (CHI) in Chinese patients. Methods: The clinical features and therapeutic outcomes of 95 CHI cases were recorded, and genetic analyses were conducted to identify mutations in ABCC8 and KCNJ11 in 55 cases. Direct sequencing was carried out in 25 of the cases with ABCC8 and KCNJ11 mutations. Additionally, 16 samples with no mutations and the remaining 30 samples were sequenced using Ion Torrent platform. Results: Clinical misdiagnosis occurred in 36/95 (38%) of the cases. Most (82/95; 84%) of the patients were given diazoxide therapy combined with age-dependent frequent feeding, which was effective in 54/95 (66%) cases. The side effects of diazoxide included sodium and water retention, gastrointestinal reactions, polytrichia, and thrombocytopenia. Five patients were treated with octreotide for 1-4 months, of which 80% (4/5) showed a positive response. Non-surgical therapy was effective in 71/95 (75%) cases. Of the four children who received subtotal pancreatectomy, only one had a good outcome. The remission rate of hypoglycemia was 59% for children over 2-yr-old. The CHI-related gene mutation rate was 38% for potassium channel-related genes. Early onset of CHI and a lower diazoxide response rate were associated with potassium-ATP channel gene mutations. Conclusion: Age-dependent frequent feeding is an acceptable therapy for CHI. Non-surgical therapy may be highly effective, in part, due to the low rate of potassium channel gene mutations. Surgical outcomes are unreliable without 18F-fluoro-L-DOPA positron emission tomography. Therefore, we do not recommend operation without definitive identification of the pathologic type.

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出版当年[2015]版:
大类 | 3 区 医学
小类 | 3 区 儿科 4 区 内分泌学与代谢
最新[2023]版:
大类 | 3 区 医学
小类 | 2 区 儿科 3 区 内分泌学与代谢
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出版当年[2014]版:
Q1 PEDIATRICS Q3 ENDOCRINOLOGY & METABOLISM
最新[2023]版:
Q1 PEDIATRICS Q2 ENDOCRINOLOGY & METABOLISM

影响因子: 最新[2023版] 最新五年平均 出版当年[2014版] 出版当年五年平均 出版前一年[2013版] 出版后一年[2015版]

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第一作者机构: [1]Capital Med Univ, Beijing Childrens Hosp, Dept Pediat Endocrinol & Genet Metab, 56 South Lishi Rd, Beijing 100045, Peoples R China;
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通讯机构: [1]Capital Med Univ, Beijing Childrens Hosp, Dept Pediat Endocrinol & Genet Metab, 56 South Lishi Rd, Beijing 100045, Peoples R China;
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