PDF(Pubmed)
Abstract：
Primary hypertrophic osteoarthropathy (PHO) is a genetic disorder mainly characterized by clubbing fingers, pachydermia and periostosis. Mutations in the HPGD or SLCO2A1 gene lead to impaired prostaglandin E2 (PGE2) degradation, thus elevating PGE2 levels. The identification of the causative genes has provided a better understanding of the underlying mechanisms. PHO can be divided into three subtypes according to its pathogenic gene and inheritance patterns. The onset age, sex ratio and clinical features differ among subtypes. The synthesis and signaling pathways of PGE2 are outlined in this review. Cyclooxygenase-2 (COX-2) is the key enzyme that acts as the rate-limiting step for prostaglandin production, thus COX-2 inhibitors have been used to treat this disease. Although this treatment showed effective results, it has side effects that restrain its use. Here, we reviewed the genetics, clinical features, differential diagnosis and current treatment options of PHO according to our many years of clinical research on the disease. We also discussed probable treatment that may be an option in the future.
摘要：
原发性肥厚性骨关节病(PHO)是一种以手指棍棒为主要特征的遗传性疾病,厚皮症和骨膜硬化。HPGD或SLCO2A1基因突变导致前列腺素E2（PGE2）降解受损，从而提高PGE2水平。致病基因的鉴定提供了对潜在机制的更好理解。PHO根据其致病基因和遗传模式可分为三个亚型。发病年龄,不同亚型的性别比例和临床特征不同。本文综述了PGE2的合成和信号通路。环氧合酶-2（COX-2）是作为前列腺素生产限速步骤的关键酶，因此COX-2抑制剂已被用于治疗这种疾病。虽然这种治疗显示出有效的结果，它有限制其使用的副作用。这里,我们回顾了遗传学，临床特征,根据我们多年的临床研究，PHO的鉴别诊断和目前的治疗选择。我们还讨论了未来可能选择的可能治疗方法。
