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1例合并范科尼综合征的膜性脂肪营养不良病例。

A case of membranous lipodystrophy complicated by Fanconi's syndrome.

作者信息

Hishikawa R, Fukase M, Yoshimoto Y, Imai Y, Okada S, Fujita T

机构信息

Department of Medicine, Kobe University School of Medicine, Japan.

出版信息

Bone Miner. 1988 Oct;5(1):99-105. doi: 10.1016/0169-6009(88)90010-4.

Abstract

A case of membranous lipodystrophy complicated by Fanconi's syndrome is described. A 40-year old man complaining of pain in his legs was admitted to our hospital. Roentgenograms showed cystic changes in the long bones. Biopsy of the affected lesion of the femur revealed a peculiar membranocystic structure in the marrow that is typical of membranous lipodystrophy. He had a neuropsychiatric disorder which is often associated with this disease. Laboratory studies were remarkable for renal proximal tubular dysfunction, i.e., Fanconi's syndrome. Membranous lipodystrophy is a rare, hereditary disease that has been reported mainly from Japan and Finland. This is the first case of this disease complicated by Fanconi's syndrome. The possible relationship between these disorders is discussed.

摘要

本文描述了一例合并范科尼综合征的膜性脂肪营养不良病例。一名40岁男性因腿部疼痛入院。X线片显示长骨有囊性改变。股骨病变部位活检显示骨髓中有典型的膜性脂肪营养不良的特殊膜性囊肿结构。他患有常与此病相关的神经精神障碍。实验室检查显示明显的近端肾小管功能障碍,即范科尼综合征。膜性脂肪营养不良是一种罕见的遗传性疾病,主要在日本和芬兰有报道。这是该疾病合并范科尼综合征的首例病例。文中讨论了这些病症之间可能的关系。

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