Reitsma-Bierens W C
Department of Paediatrics, University Hospital, Groningen, The Netherlands.
Eur J Pediatr. 1993;152 Suppl 1:S60-2. doi: 10.1007/BF02072091.
Deficiency of the enzyme glucose-6-phosphatase is the biochemical defect in glycogen storage disease type I (GSD I). Normally this enzyme is present in the liver, intestine and kidneys. The lack of the enzyme in the kidney makes it obvious that glycogen storage will not be restricted to the liver but that also the kidneys will be involved, possibly resulting in renal damage. Glycogen storage in the kidney is most outspoken present in the proximal tubular cells. In case of insufficient metabolic control, a Fanconi-like syndrome can develop, disappearing with improved therapy. Although renal disease has not been considered a problem in GSD I, recent findings indicate that especially in adult patients chronic renal disease is a common complication. In the past gout nephropathy and renal stones were the complications mentioned. Recently it appears that in a considerable number of patients after a period of 'silent' hyperfiltration, renal damage develops with proteinuria, hypertension and renal dysfunction later on. In biopsies of such patients focal glomerulosclerosis is found.
葡萄糖-6-磷酸酶缺乏是I型糖原贮积病（GSD I）的生化缺陷。正常情况下，这种酶存在于肝脏、肠道和肾脏中。肾脏中缺乏该酶表明糖原贮积不仅局限于肝脏，肾脏也会受累，可能导致肾损伤。肾脏中的糖原贮积在近端肾小管细胞中最为明显。在代谢控制不足的情况下，可出现类范科尼综合征，随着治疗改善而消失。尽管肾病在GSD I中未被视为问题，但最近的研究结果表明，尤其是成年患者，慢性肾病是常见的并发症。过去提到的并发症是痛风性肾病和肾结石。最近发现，相当一部分患者在经历一段时间的“沉默”超滤后，随后会出现蛋白尿、高血压和肾功能障碍等肾损伤。在此类患者的活检中可发现局灶性肾小球硬化。
