Primary hypertrophic osteoarthropathy: genetics, clinical features and management.
Primary hypertrophic osteoarthropathy: genetics, clinical features and management.
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DOI：
10.3389/fendo.2023.1235040
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发表时间：
2023
影响因子：
5.2
通讯作者：
中科院分区：
文献类型：
--
作者：
原发性肥大性骨关节病（PHO）是一种遗传性疾病，主要表现为杵状指、厚皮症和骨膜增生。HPGD或SLCO 2A 1基因突变导致前列腺素E2（PGE 2）降解受损，从而升高PGE 2水平。致病基因的鉴定提供了对潜在机制的更好理解。根据致病基因和遗传方式，PHO可分为三种亚型。不同亚型的发病年龄、性别比例和临床特征不同。本文综述了PGE 2的合成及其信号通路。环氧合酶-2（考克斯-2）是前列腺素生成的限速酶，因此考克斯-2抑制剂已被用于治疗前列腺素缺乏症。虽然这种治疗显示出有效的结果，但它具有限制其使用的副作用。本文根据多年的临床研究，对PHO的遗传学、临床特点、鉴别诊断及目前的治疗方案作一综述。我们还讨论了可能的治疗方法，这可能是未来的一种选择。
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.
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DOI：
10.1111/1346-8138.12869
发表时间：
2015-07
期刊：
The Journal of dermatology
影响因子：
--
作者：
Tanese K;Niizeki H;Seki A;Otsuka A;Kabashima K;Kosaki K;Kuwahara M;Miyakawa S;Miyasaka M;Matsuoka K;Okuyama T;Shiohama A;Sasaki T;Kudoh J;Amagai M;Ishiko A
通讯作者：
Ishiko A
影响因子：
5
作者：
Chen, Yulin;Li, Guoqiang;Wang, Jian
通讯作者：
Wang, Jian
影响因子：
3.9
作者：
Diggle, Christine P.;Parry, David A.;Bonthron, David T.
通讯作者：
Bonthron, David T.
影响因子：
0.9
作者：
Bingol, Ugur Anil;Cinar, Can
通讯作者：
Cinar, Can
影响因子：
5.5
作者：
Diggle, Christine P.;Carr, Ian M.;Bonthron, David T.
通讯作者：
Bonthron, David T.