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一例伴有严重高胰岛素血症的妖精貌综合征。

A case of leprechaunism with severe hyperinsulinemia.

作者信息

Rosenberg A M, Haworth J C, Degroot G W, Trevenen C L, Rechler M M

出版信息

Am J Dis Child. 1980 Feb;134(2):170-5. doi: 10.1001/archpedi.1980.02130140044014.

Abstract

This report describes an infant with physical features typical of leprechaunism, including a characteristic facies, hirsutism, and decreased subcutaneous tissue and muscle mass. Intermittent hypoglycemia and severe hyperinsulinemia were documented. The patient's insulin was normal in molecular size and biological activity, but its binding to the patient's cultured fibroblasts was profoundly decreased. Insulin antibodies were not present. A literature review has been undertaken to clarify further the clinical, metabolic, and pathological characteristics of this condition.

摘要

本报告描述了一名具有典型脂肪代谢障碍症身体特征的婴儿,包括特征性面容、多毛症以及皮下组织和肌肉量减少。记录到间歇性低血糖和严重高胰岛素血症。患者的胰岛素在分子大小和生物活性方面正常,但其与患者培养的成纤维细胞的结合显著减少。不存在胰岛素抗体。已进行文献综述以进一步阐明该病症的临床、代谢和病理特征。

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