{"title":"一名 Slco2a1 基因杂合子突变患者的肥大性骨关节病：病例报告","authors":"I. Benlidayı, Kubra Tuncer, T. Sarpel","doi":"10.47316/cajmhe.2023.4.3.03","DOIUrl":null,"url":null,"abstract":"Hypertrophic osteoarthropathy (HOA) is a condition characterized by aberrant skin and osseous tissue proliferation in the distal extremities. Mutations in the 15-hydroxyprostaglandin dehydrogenase gene (HPGD) and the soluble carrier organic anion carrier family member 2A1 gene (SLCO2A1) were associated with primary HOA. Secondary HOA, which is also called as 'hypertrophic pulmonary osteoarthropathy' is responsible for 95-97% of cases. Herein, we present a 19-year-old female patient with primary HOA and heterozygous mutation in the SLCO2A1 gene.","PeriodicalId":388483,"journal":{"name":"Central Asian Journal of Medical Hypotheses and Ethics","volume":" 15","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"HYPERTROPHIC OSTEOARTHROPATHY IN A PATIENT WITH HETEROZYGOUS MUTATION IN THE SLCO2A1 GENE: A CASE REPORT\",\"authors\":\"I. Benlidayı, Kubra Tuncer, T. Sarpel\",\"doi\":\"10.47316/cajmhe.2023.4.3.03\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Hypertrophic osteoarthropathy (HOA) is a condition characterized by aberrant skin and osseous tissue proliferation in the distal extremities. Mutations in the 15-hydroxyprostaglandin dehydrogenase gene (HPGD) and the soluble carrier organic anion carrier family member 2A1 gene (SLCO2A1) were associated with primary HOA. Secondary HOA, which is also called as 'hypertrophic pulmonary osteoarthropathy' is responsible for 95-97% of cases. Herein, we present a 19-year-old female patient with primary HOA and heterozygous mutation in the SLCO2A1 gene.\",\"PeriodicalId\":388483,\"journal\":{\"name\":\"Central Asian Journal of Medical Hypotheses and Ethics\",\"volume\":\" 15\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-12-29\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Central Asian Journal of Medical Hypotheses and Ethics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.47316/cajmhe.2023.4.3.03\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Central Asian Journal of Medical Hypotheses and Ethics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.47316/cajmhe.2023.4.3.03","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
摘要
肥大性骨关节病（HOA）是一种以四肢远端皮肤和骨组织异常增生为特征的疾病。15-羟基前列腺素脱氢酶基因（HPGD）和可溶性载体有机阴离子载体家族成员2A1基因（SLCO2A1）的突变与原发性HOA有关。继发性 HOA 又称 "肥厚性肺骨关节病"，占 95-97% 的病例。在此，我们介绍了一名患有原发性HOA和SLCO2A1基因杂合突变的19岁女性患者。
HYPERTROPHIC OSTEOARTHROPATHY IN A PATIENT WITH HETEROZYGOUS MUTATION IN THE SLCO2A1 GENE: A CASE REPORT
Hypertrophic osteoarthropathy (HOA) is a condition characterized by aberrant skin and osseous tissue proliferation in the distal extremities. Mutations in the 15-hydroxyprostaglandin dehydrogenase gene (HPGD) and the soluble carrier organic anion carrier family member 2A1 gene (SLCO2A1) were associated with primary HOA. Secondary HOA, which is also called as 'hypertrophic pulmonary osteoarthropathy' is responsible for 95-97% of cases. Herein, we present a 19-year-old female patient with primary HOA and heterozygous mutation in the SLCO2A1 gene.
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