使用小剂量奥曲肽治疗 ABCC8 基因复合杂合子突变导致的重氮抗性先天性高胰岛素症。

IF 2.8 Q3 ENDOCRINOLOGY & METABOLISM Annals of Pediatric Endocrinology & Metabolism Pub Date : 2023-12-01 Epub Date: 2022-06-29 DOI:10.6065/apem.2244068.034
Kyujung Park, Kyung In Lim, Young Bae Sohn, Hae Sang Lee, Jin Soon Hwang
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引用次数: 0

摘要

先天性高胰岛素症(CHI)是一种由胰腺ß-细胞过度分泌胰岛素引起的低血糖症,可以抑制婴儿的大脑发育。CHI主要与ABCC8或KCNJ11基因突变有关,这两个基因编码atp敏感钾(KATP)通道的SUR1和KIR 6.2亚基。在这里,我们报告一例ABCC8基因突变的高胰岛素性低血糖症,发生在一个足月的韩国女性婴儿,她发生了早发性低血糖,但没有进行遗传或代谢检查。这名婴儿后来因低血糖发作被送进急诊室,但她的代谢检查显示,她的空腹胰岛素和c肽水平都在正常范围内。尽管胰高血糖素刺激产生了阳性结果,但遗传检查显示ABCC8基因c.[298G>T(;)4252C>T]突变。这意味着二氮氧化合物治疗,但在疗程不成功后,我们改用奥曲肽帮助稳定她的血糖。随访5年多,患者低剂量奥曲肽治疗未发生低血糖事件,生长发育和精神运动发育均在正常范围内。然而,尽管使用了奥曲肽,她还是严重肥胖(BMI超过97%)。因此,我们报告一例轻度CHI患者接受奥曲肽治疗,患者胰岛素和c肽水平正常,发育正常,但严重肥胖。
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Using low-dose octreotide with diazoxide-resistant congenital hyperinsulinism resulting from compound heterozygous mutations in the ABCC8 gene.
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来源期刊
CiteScore
4.00
自引率
18.20%
发文量
59
审稿时长
24 weeks
期刊介绍: The Annals of Pediatric Endocrinology & Metabolism Journal is the official publication of the Korean Society of Pediatric Endocrinology. Its formal abbreviated title is “Ann Pediatr Endocrinol Metab”. It is a peer-reviewed open access journal of medicine published in English. The journal was launched in 1996 under the title of ‘Journal of Korean Society of Pediatric Endocrinology’ until 2011 (pISSN 1226-2242). Since 2012, the title is now changed to ‘Annals of Pediatric Endocrinology & Metabolism’. The Journal is published four times per year on the last day of March, June, September, and December. It is widely distributed for free to members of the Korean Society of Pediatric Endocrinology, medical schools, libraries, and academic institutions. The journal is indexed/tracked/covered by web sites of PubMed Central, PubMed, Emerging Sources Citation Index (ESCI), Scopus, EBSCO, EMBASE, KoreaMed, KoMCI, KCI, Science Central, DOI/CrossRef, Directory of Open Access Journals(DOAJ), and Google Scholar. The aims of Annals of Pediatric Endocrinology & Metabolism are to contribute to the advancements in the fields of pediatric endocrinology & metabolism through the scientific reviews and interchange of all of pediatric endocrinology and metabolism. It aims to reflect the latest clinical, translational, and basic research trends from worldwide valuable achievements. In addition, genome research, epidemiology, public education and clinical practice guidelines in each country are welcomed for publication. The Journal particularly focuses on research conducted with Asian-Pacific children whose genetic and environmental backgrounds are different from those of the Western. Area of specific interest include the following : Growth, puberty, glucose metabolism including diabetes mellitus, obesity, nutrition, disorders of sexual development, pituitary, thyroid, parathyroid, adrenal cortex, bone or other endocrine and metabolic disorders from infancy through adolescence.
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