Wolfsdorf J I, Holm I A, Weinstein D A
Department of Pediatrics, Harvard Medical School, Boston, Massachussetts, USA.
Endocrinol Metab Clin North Am. 1999 Dec;28(4):801-23. doi: 10.1016/s0889-8529(05)70103-1.
The glycogen storage diseases are caused by inherited deficiencies of enzymes that regulate the synthesis or degradation of glycogen. In the past decade, considerable progress has been made in identifying the precise genetic abnormalities that cause the specific impairments of enzyme function. Likewise, improved understanding of the pathophysiologic derangements resulting from individual enzyme defects has led to the development of effective nutritional therapies for each of these disorders. Meticulous adherence to dietary therapy prevents hypoglycemia, ameliorates the biochemical abnormalities, decreases the size of the liver, and results in normal or nearly normal physical growth and development. Nevertheless, serious long-term complications, including nephropathy that can cause renal failure and hepatic adenomata that can become malignant, are a major concern in GSD-I. In GSD-III, the risk for hypoglycemia diminishes with age, and the liver decreases in size during puberty. Cirrhosis develops in some adult patients, and progressive myopathy and cardiomyopathy occur in patients with absent GDE activity in muscle. It remains unclear whether these complications of glycogen storage disease can be prevented by dietary therapy. Glycogen storage diseases caused by lack of phosphorylase activity are milder disorders with a good prognosis. The liver decreases in size, and biochemical abnormalities disappear by puberty.
糖原贮积病是由调节糖原合成或降解的酶的遗传性缺陷引起的。在过去十年中，在确定导致酶功能特定损害的确切基因异常方面取得了相当大的进展。同样，对由个体酶缺陷导致的病理生理紊乱的更好理解，已促使针对这些疾病中的每一种开发出有效的营养疗法。严格坚持饮食疗法可预防低血糖，改善生化异常，减小肝脏大小，并使身体正常或接近正常生长发育。然而，严重的长期并发症，包括可导致肾衰竭的肾病和可恶变的肝腺瘤，是糖原贮积病I型的主要关注点。在糖原贮积病III型中，低血糖风险随年龄降低，肝脏在青春期时缩小。一些成年患者会发展为肝硬化，肌肉中缺乏糖原脱支酶活性的患者会出现进行性肌病和心肌病。目前尚不清楚饮食疗法能否预防糖原贮积病的这些并发症。由磷酸化酶活性缺乏引起的糖原贮积病是较轻的疾病，预后良好。肝脏会缩小，生化异常在青春期时消失。
