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[肝脏遗传性贮积病(作者译)]

[Hereditary storage diseases of the liver (author's transl)].

作者信息

Schaub J

出版信息

Leber Magen Darm. 1979 Sep;9(5):227-34.

PMID:392211
Abstract

Storage diseases of the liver are reviewed, classified according to the clinical symptoms. Glycogen storage diseases go along with enlargement of the liver, - the size of the spleen being normal in the beginning; presenting symptoms in many cases are metabolic disturbances as for instance hypoglycemia. Acute symptoms due to derangement of liver function occur in galactosemia and in hereditary fructose intolerance when uptake of the hexoses is not tolerated. Splenomegaly and hepatomegaly are typical in certain lipid storage diseases; these diseases may as well exhibit hematologic symptoms. Bone dysplasias are discussed finally, which use to go along with enlargement of the liver due to storage of compounds not metabolized.

摘要

本文根据临床症状对肝脏储存疾病进行了综述和分类。糖原储存疾病伴有肝脏肿大,起初脾脏大小正常;在许多情况下,出现的症状是代谢紊乱,例如低血糖。当己糖摄取不耐受时,半乳糖血症和遗传性果糖不耐受会出现肝功能紊乱引起的急性症状。脾肿大和肝肿大在某些脂质储存疾病中很典型;这些疾病也可能表现出血液学症状。最后讨论了骨发育异常,它通常与因未代谢化合物储存而导致的肝脏肿大有关。

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