Melis D, Pivonello R, Cozzolino M, Della Casa R, Balivo F, Del Puente A, Dionisi-Vici C, Cotugno G, Zuppaldi C, Rigoldi M, Parini R, Colao A, Andria G, Parenti G
Dipartimenti di Pediatria, Università Federico II, Napoli, Italy.
Horm Res Paediatr. 2014;81(1):55-62. doi: 10.1159/000351022. Epub 2013 Dec 21.
Glycogen storage disease type 1 (GSD1) is a rare and genetically heterogeneous metabolic defect of gluconeogenesis due to mutations of either the G6PC gene (GSD1a) or the SLC37A4 gene (GSD1b). Osteopenia is a known complication of GSD1.
The aim of this study was to investigate the effects of poor metabolic control and/or use of GSD1-specific treatments on bone mineral density (BMD) and metabolism in GSD1 patients.
In a multicenter, cross-sectional case-control study, we studied 38 GSD1 (29 GSD1a and 9 GSD1b) patients. Clinical, biochemical and instrumental parameters indicative of bone metabolism were analyzed; BMD was evaluated by dual-emission X-ray absorptiometry and quantitative ultrasound.
Both GSD1a and GSD1b patients showed reduced BMD compared with age-matched controls. In GSD1a patients, these abnormalities correlated with compliance to diet and biochemical indicators of metabolic control. In GSD1b patients, BMD correlated with the age at first administration and the duration of granulocyte colony-stimulating factor (G-CSF) therapy.
Our data indicate that good metabolic control and compliance with diet are highly recommended to improve bone metabolism in GSD1a patients. GSD1b patients on G-CSF treatment should be carefully monitored for the risk of osteopenia/osteoporosis.
1型糖原贮积病（GSD1）是一种罕见的、因葡萄糖-6-磷酸酶基因（GSD1a）或溶质载体家族37成员4基因（SLC37A4）（GSD1b）突变导致的糖异生代谢缺陷性疾病。骨质减少是GSD1已知的并发症。
本研究旨在调查代谢控制不佳和/或使用GSD1特异性治疗对GSD1患者骨密度（BMD）和骨代谢的影响。
在一项多中心横断面病例对照研究中，我们研究了38例GSD1患者（29例GSD1a和9例GSD1b）。分析了指示骨代谢的临床、生化和仪器参数；通过双能X线吸收法和定量超声评估BMD。
与年龄匹配的对照组相比，GSD1a和GSD1b患者的BMD均降低。在GSD1a患者中，这些异常与饮食依从性和代谢控制的生化指标相关。在GSD1b患者中，BMD与首次给药年龄和粒细胞集落刺激因子（G-CSF）治疗持续时间相关。
我们的数据表明，强烈建议GSD1a患者进行良好的代谢控制并遵守饮食，以改善骨代谢。接受G-CSF治疗的GSD1b患者应密切监测骨质减少/骨质疏松的风险。
