A syndrome of congenital hyperinsulinism and hyperammonemia.
A syndrome of congenital hyperinsulinism and hyperammonemia.
复制标题
先天性高胰岛素血症和高氨血症的综合征。
DOI：
10.1016/s0022-3476(97)70256-7
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发表时间：
1997
期刊：
影响因子：
--
通讯作者：
Thornton,PS
中科院分区：
文献类型：
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作者：
Weinzimer,SA;Stanley,CA;Berry,GT;Yudkoff,M;Tuchman,M;Thornton,PS
本报告描述了两个病人从无关的家庭与一个不寻常的综合征高胰岛素血症加高血氨。高胰岛素血症的诊断基于空腹低血糖伴胰岛素水平不适当升高、β-羟基丁酸酯和游离脂肪酸水平不适当降低以及对胰高血糖素给药的血糖反应不适当增大的证据。在这两名患者中，血浆铵水平持续升高，不受蛋白质喂养，蛋白质限制或苯甲酸盐治疗的影响。血浆和尿氨基酸、尿有机酸和尿乳清酸水平与任何尿素循环酶缺陷或其他高氨血症疾病均不一致。这两名患者似乎代表了一种独特的先天性高胰岛素血症，不同于先前描述的常染色体显性和常染色体隐性变异。我们推测潜在的缺陷涉及胰腺β细胞中胰岛素分泌和肝脏中尿素合成的氨基酸调节共同的位点。（J Pediatr 1997;130：661-4）
This report describes two patients from unrelated families with an unusual syndrome of hyperinsulinism plus hyperammonemia. The diagnosis of hyperinsulinism was based on the demonstration of fasting hypoglycemia with inappropriately elevated insulin levels, inappropriately low β-hydroxybutyrate and free fatty acid levels, and inappropriately large glycemic response to the administration of glucagon. In both patients, plasma ammonium levels were persistently elevated and unaffected by protein feeding, protein restriction, or benzoate therapy. Plasma and urinary amino acids, urinary organic acids, and urinary orotic acid levels were not consistent with any of the urea cycle enzyme defects or other hyperammonemic disorders. These two patients appear to represent a unique form of congenital hyperinsulinism distinct from the previously described autosomal dominant and autosomal recessive variants. We speculate that the underlying defect involves a site that is common to the amino acid regulation of both insulin secretion in pancreatic β-cells and urea synthesis in the liver. (J Pediatr 1997;130:661-4)