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糖原累积病(Glycogen Storage diseases)是先天性糖代谢异常,属常染色体隐性遗传,仅Ⅸb型为性联遗传。发病机理是由于糖原在合成和分解过程中酶系统的缺陷,因而在一些组织或器官中正常糖原含量增多,或形成结构异常的糖原,其糖原含量不一定增多,甚而减少。故对本病的命名似称糖原代谢病较为合适。通常,根据其主要受累组织和器官而归纳为两类:一类以肝脏受累为主,另一类主要影响肌肉系统(包括心肌和骨骼肌)。到目前为止本病已有11型(Ⅰ至Ⅹ和O型)和10个亚型(Ⅰa,b,Ⅱa,b,Ⅲa,b,cd,Ⅸa,b),另外尚有些未分型的不定型。临床以肝糖原累积病为多见,占糖原累积病中的8个型及其亚型(Ⅰa,b,Ⅲa,b,d,Ⅳ,Ⅵ,Ⅷ,Ⅸa,b,Ⅹ,O)。本文仅介绍和讨论肝糖原累积病。资料来源于北京儿童医院从1955年建院以来住院病例中诊断为肝糖原累积病者37例。现将诊断明确、资料完整的18例加以分析。
Glycogen Storage diseases are abnormalities of congenital glucose metabolism, which are autosomal recessive. Only Ⅸ b is sex-linked. Pathogenesis is due to glycogen synthesis and decomposition process of the enzyme system defects, and thus in some tissues or organs increase in normal glycogen content, or the formation of structural abnormalities of glycogen, the glycogen content does not necessarily increase, or even reduce. Therefore, the name of the disease, said glycogen metabolism is more appropriate. Often, they are grouped into two main groups according to their main affected tissues and organs: one is predominantly liver and the other predominantly affects the muscular system (including myocardium and skeletal muscle). So far, the disease has 11 (Ⅰ to Ⅹ and O) and 10 subtypes (Ⅰa, b, Ⅱa, b, Ⅲa, b, cd, Ⅸa, b) Stereotypes. Clinical glycogen storage disease is more common, accounting for glycogen storage disease in eight types and subtypes (Ⅰ a, b, Ⅲ a, b, d, Ⅳ, Ⅵ, Ⅷ, Ⅸ a, b, Ⅹ, O) . This article describes and discusses glycogen storage disease. Data from Beijing Children’s Hospital since 1955 since the hospitalization of patients diagnosed as glycogen accumulation in 37 cases. Diagnosis is now clear, complete data 18 cases to be analyzed.