Weinzimer S A, Stanley C A, Berry G T, Yudkoff M, Tuchman M, Thornton P S
Department of Pediatrics, Children's Hospital of Philadelphia, PA 19104, USA.
J Pediatr. 1997 Apr;130(4):661-4. doi: 10.1016/s0022-3476(97)70256-7.
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 beta-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 beta-cells and urea synthesis in the liver.
本报告描述了来自两个无血缘关系家庭的两名患者，他们患有高胰岛素血症合并高氨血症这一罕见综合征。高胰岛素血症的诊断依据是空腹低血糖伴胰岛素水平异常升高、β-羟丁酸和游离脂肪酸水平异常降低，以及给予胰高血糖素后血糖反应异常增大。在这两名患者中，血浆铵水平持续升高，且不受蛋白质摄入、蛋白质限制或苯甲酸盐治疗的影响。血浆和尿氨基酸、尿有机酸以及尿乳清酸水平与任何尿素循环酶缺陷或其他高氨血症性疾病均不一致。这两名患者似乎代表了一种独特的先天性高胰岛素血症形式，有别于先前描述的常染色体显性和常染色体隐性变异型。我们推测，潜在缺陷涉及一个在胰腺β细胞胰岛素分泌和肝脏尿素合成的氨基酸调节中都常见的位点。
