Progressive osseous heteroplasia: diagnosis, treatment, and prognosis.
Progressive osseous heteroplasia: diagnosis, treatment, and prognosis.
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DOI：
10.2147/tacg.s51064
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发表时间：
2015
期刊：
影响因子：
--
通讯作者：
Kaplan FS
中科院分区：
文献类型：
--
作者：
Pignolo RJ;Ramaswamy G;Fong JT;Shore EM;Kaplan FS
进行性骨异型增生 (POH) 是一种极为罕见的进行性异位骨化遗传性疾病。大多数 POH 病例是由 GNAS 杂合失活突变引起的，GNAS 是编码腺苷酸环化酶 G 刺激蛋白 α 亚基的基因。 POH 是一系列相关遗传性疾病的一部分，包括奥尔布赖特遗传性骨营养不良、假性甲状旁腺功能减退症和原发性皮肤骨瘤，它们具有浅表骨化的共同特征以及与 GNAS 失活突变的相关性。本文将总结 POH 的遗传学、诊断标准、支持临床特征、当前治疗和预后，并讨论新兴的治疗策略。
Progressive osseous heteroplasia (POH) is an ultrarare genetic condition of progressive ectopic ossification. Most cases of POH are caused by heterozygous inactivating mutations of GNAS, the gene encoding the alpha subunit of the G-stimulatory protein of adenylyl cyclase. POH is part of a spectrum of related genetic disorders, including Albright hereditary osteodystrophy, pseudohypoparathyroidism, and primary osteoma cutis, that share common features of superficial ossification and association with inactivating mutations of GNAS. The genetics, diagnostic criteria, supporting clinical features, current management, and prognosis of POH are reviewed here, and emerging therapeutic strategies are discussed.