Szymańska Edyta, Jóźwiak-Dzięcielewska Dominika A, Gronek Joanna, Niewczas Marta, Czarny Wojciech, Rokicki Dariusz, Gronek Piotr
Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland.
Laboratory of Genetics, Department of Gymnastics and Dance, University School of Physical Education, Poznan, Poland.
Arch Med Sci. 2019 Feb 18;17(2):304-313. doi: 10.5114/aoms.2019.83063. eCollection 2021.
Glycogen storage diseases (GSDs) are genetically determined metabolic diseases that cause disorders of glycogen metabolism in the body. Due to the enzymatic defect at some stage of glycogenolysis/glycogenesis, excess glycogen or its pathologic forms are stored in the body tissues. The first symptoms of the disease usually appear during the first months of life and are thus the domain of pediatricians. Due to the fairly wide access of the authors to unpublished materials and research, as well as direct contact with the GSD patients, the article addresses the problem of actual diagnostic procedures for patients with the suspected diseases. Knowledge and awareness of the problem among physicians seem insufficient, and research on the diagnosis and treatment of GSD is still ongoing, resulting in a heterogeneous GSD typology and a changing way of its diagnosis and treatment.
糖原贮积病（GSDs）是由基因决定的代谢性疾病，可导致体内糖原代谢紊乱。由于糖原分解/糖原合成某些阶段的酶缺陷，过量的糖原或其病理形式会储存在身体组织中。该疾病的最初症状通常在出生后的头几个月出现，因此属于儿科医生的诊疗范围。鉴于作者能够相当广泛地获取未发表的材料和研究成果，以及与糖原贮积病患者的直接接触，本文探讨了疑似该病患者实际诊断程序的问题。医生们对该问题的了解和认识似乎不足，而且关于糖原贮积病诊断和治疗的研究仍在进行中，这导致了糖原贮积病类型的异质性以及其诊断和治疗方式的不断变化。
