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Modern Rheumatology Case Reports Volume 5, 2021 - Issue 2
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Case Reports

Primary hypertrophic osteoarthropathy with severe arthralgia identified by gene mutation of SLCO2A1

Tatsuo Ishizukaa Center of General Internal Medicine and Rheumatology, Gifu Municipal Hospital, Gifu, JapanCorrespondence[email protected]
,
Kei Fujiokaa Center of General Internal Medicine and Rheumatology, Gifu Municipal Hospital, Gifu, Japan
,
Ichiro Moria Center of General Internal Medicine and Rheumatology, Gifu Municipal Hospital, Gifu, Japan
,
Tomofumi Takedaa Center of General Internal Medicine and Rheumatology, Gifu Municipal Hospital, Gifu, Japan
,
Masayuki Fuwaa Center of General Internal Medicine and Rheumatology, Gifu Municipal Hospital, Gifu, Japan
,
Takahide Ikedab Department of General Internal Medicine, Gifu University Graduate School of Medicine, Gifu, Japan
,
Koichiro Taguchib Department of General Internal Medicine, Gifu University Graduate School of Medicine, Gifu, Japan
,
Hiroyuki Moritab Department of General Internal Medicine, Gifu University Graduate School of Medicine, Gifu, Japan
,
Kazuhiko Nakabayashic Department of Maternal-Fetal Biology, National Center for Child Health and Development, Tokyo, Japan;d Department of Dermatology, National Center for Child Health and Development, Tokyo, Japan
&
Hironori Niizekic Department of Maternal-Fetal Biology, National Center for Child Health and Development, Tokyo, Japan;d Department of Dermatology, National Center for Child Health and Development, Tokyo, Japan
 show all
Pages 404-408 | Received 29 Sep 2020, Accepted 07 Dec 2020, Published online: 18 Jan 2021

References

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  • Uppal S, Diggle C, Carr I, et al. Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. Nat Genet. 2008;40(6):789–793.
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  • Seifert W, Kuhnisch J, Tuysuz B, et al. Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing. Hum Mutat. 2012;33(4):660–664.
  • Zhan Z, Xia W, He J, et al. Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. Am J Hum Genet. 2012;90(1):125–132.
  • Yuan l, Chen X, Liu Z, et al. Novel SLCO2A1 mutations cause gender-differentiated pachydermoperiostosis. Endocr Connect. 2018;7(11):1116–1128.
  • Arai Y, Arihiro S, Matsuura T, et al. Prostaglandin E-Major urinary metabolite as a reliable surrogate marker for mucosal inflammation in ulcerative colitis. Inflamm Bowel Dis. 2014; 20:1208–1216.
  • Sasaki T, Niizeki H, Shimizu A, et al. Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosis. J Dermatol Sci. 2012;68(1):36–44.
  • Shakya P, Pokhrel KN, Mlunde LB, et al. Effectiveness of non-steroidal anti-inflammatory drugs among patients with primary hypertrophic osteoarthropathy: A systematic review. J Dermatol Sci. 2018;90(1):21–26.

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