de Gijt J Pieter, van Capelle Carine I, Oosterhuis J Wolter, van der Ploeg Ans T, van der Wal Karel G H
Department of Oral and Maxillofacial Surgery, Erasmus University Medical Center, Rotterdam, The Netherlands.
J Oral Maxillofac Surg. 2011 Aug;69(8):2186-90. doi: 10.1016/j.joms.2011.03.070.
Pompe disease, or glycogen storage disease type 2, is a rare inheritable metabolic disease caused by a deficiency of the lysosomal enzyme acid α-glucosidase. Patients with the classic infantile form of Pompe disease present with symptoms during the first 3 months after birth, and most will die within their first year. Recently, enzyme replacement therapy (ERT) with recombinant human α-glucosidase became commercially available for Pompe disease. This is a case report of an 8-year-old girl with the infantile form of Pompe disease who is one of the longest survivors through ERT. The patient was tetraplegic when she started ERT. At age 3 years, she developed massive gingival overgrowth and could not close her mouth, prompting a reduction of the gingival overgrowth surgically. We expected that massive accumulation of glycogen would explain the gingival overgrowth. However, histopathology of the gingiva tissue showed marked glycogen accumulation in smooth muscle cells of the arteries, but the glycogen content in fibroblasts did not exceed that of control individuals. Further, there was an increase of immature collagen in the connective tissue, and signs of a mild chronic inflammation. We concluded that glycogen storage is not a direct causative factor of gingival overgrowth in our patient. Chronic inflammation, dryness of the gingiva, or even the minimal glycogen accumulation in the fibroblasts may have played a role.
庞贝病，即2型糖原贮积病，是一种罕见的遗传性代谢疾病，由溶酶体酶酸性α-葡萄糖苷酶缺乏引起。经典婴儿型庞贝病患者在出生后的前3个月出现症状，大多数患者会在1岁内死亡。最近，重组人α-葡萄糖苷酶的酶替代疗法（ERT）已在市场上用于治疗庞贝病。本文报告了一名8岁婴儿型庞贝病女孩的病例，她是接受ERT治疗后存活时间最长的患者之一。该患者开始接受ERT治疗时已四肢瘫痪。3岁时，她出现了严重的牙龈增生，无法闭嘴，促使通过手术减少牙龈增生。我们预期糖原的大量积累可以解释牙龈增生的原因。然而，牙龈组织的组织病理学显示动脉平滑肌细胞中有明显的糖原积累，但成纤维细胞中的糖原含量并未超过对照个体。此外，结缔组织中未成熟胶原蛋白增加，并有轻度慢性炎症迹象。我们得出结论，糖原贮积不是我们患者牙龈增生的直接致病因素。慢性炎症、牙龈干燥，甚至成纤维细胞中极少的糖原积累可能都起到了一定作用。
