Division of Pediatric Nephrology, University of Florida, Gainesville, FL, USA.
Glycogen Storage Disease Program, University of Florida, Gainesville, FL, USA.
J Inherit Metab Dis. 2017 Sep;40(5):703-708. doi: 10.1007/s10545-017-0054-2. Epub 2017 Jun 13.
The onset of microalbuminuria (MA) heralds the onset of glomerulopathy in patients with glycogen storage disease (GSD) type I. Unlike tubulopathy, which responds to improved metabolic control, glomerulopathy in GSD I is considered refractory to medical intervention, and it is thought to inexorably progress to overt proteinuria and renal failure. Recent reports of reduced microalbuminuria following strict adherence to therapy counter this view. In contrast to type Ia, little is known regarding the prevalence of kidney disease in GSD Ib, 0, III, VI, and IX. Subjects were evaluated with 24-h urine collections between 2005 and 2014 as part of a longitudinal study of the natural history of GSD. ACE inhibitor therapy (AIT) was commenced after documentation of microalbuminuria. Elevated urine albumin excretion was detected in 23 of 195 GSD Ia patients (11.7%) and six of 45 GSD Ib (13.3%). The median age of onset of microalbuminuria in GSD Ia was 24 years (range 9-56); in GSD Ib it was 25 years (range 20-38). Of 14 with GSD Ia who complied with dietary and AIT during the study period, microalbuminuria decreased in 11, in whom metabolic control improved. All 135 patients with the ketotic forms of GSD (0, III, VI and IX) consistently had normal microalbumin excretion. Strict adherence to dietary therapy and maintenance of optimal metabolic control is necessary to halt the progression of GSD Ia glomerulopathy in patients treated with AIT. With optimal care, protein excretion can be reduced and even normalize.
微量白蛋白尿（MA）的出现预示着糖原贮积病（GSD）I 型患者肾小球病的发生。与肾小管病不同，后者对代谢控制的改善有反应，而 GSD I 型的肾小球病被认为对药物干预有抗性，并且被认为不可避免地进展为显性蛋白尿和肾衰竭。最近有报道称，严格遵循治疗后微量白蛋白尿减少，这与上述观点相反。与 Ia 型相比，人们对 GSD Ib、0、III、VI 和 IX 型肾病的患病率知之甚少。在 2005 年至 2014 年期间作为 GSD 自然史的纵向研究的一部分，通过 24 小时尿液收集对受试者进行了评估。在记录到微量白蛋白尿后开始使用血管紧张素转换酶抑制剂（ACEI）治疗。在 195 例 GSD Ia 患者中有 23 例（11.7%）和 45 例 GSD Ib 患者中的 6 例（13.3%）检测到尿液白蛋白排泄量升高。GSD Ia 患者微量白蛋白尿的中位发病年龄为 24 岁（范围 9-56）；在 GSD Ib 中为 25 岁（范围 20-38）。在研究期间遵守饮食和 AIT 的 14 例 GSD Ia 患者中，微量白蛋白尿减少了 11 例，其中代谢控制得到改善。所有 135 例酮症型 GSD（0、III、VI 和 IX）患者的微量白蛋白排泄量均正常。严格遵守饮食治疗并保持最佳代谢控制对于在接受 AIT 治疗的患者中阻止 GSD Ia 肾小球病的进展是必要的。通过最佳治疗，可以减少甚至使蛋白排泄正常化。
