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[一名11岁女孩的全身性糖原贮积病(庞贝病)]

[Generalized glycogenosis (Pompe's disease) in an 11-year-old girl].

作者信息

Rozenberg V D

出版信息

Arkh Patol. 1978;40(9):69-71.

PMID:280283
Abstract

A case of cardiomegalic glycogenosis in a girl of 11 is described. The autopsy revealed cardial hypertrophy, hepatomegaly and enlargement of the kidneys. Histologically, diffuse accumulation of glycogen in the heart muscle, liver, epithelium of the convoluted tubules of the kidneys and in skeletal muscles was demonstrated. The features of the observation include the long-term course of the disease and combination of cardiomegalic glycogenosis with hepato-renal manifestations of enzymopathies.

摘要

本文描述了一名11岁女孩患心脏肥大性糖原贮积症的病例。尸检发现心脏肥大、肝脏肿大和肾脏增大。组织学检查显示,糖原在心肌、肝脏、肾曲管上皮和骨骼肌中弥漫性积聚。该病例的特点包括病程较长,以及心脏肥大性糖原贮积症与酶病的肝肾表现并存。

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