Primary hypertrophic osteoarthropathy with severe arthralgia identified by gene mutation of SLCO2A1
Primary hypertrophic osteoarthropathy with severe arthralgia identified by gene mutation of SLCO2A1
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DOI：
10.1080/24725625.2020.1861744
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发表时间：
2020-12
影响因子：
0.8
通讯作者：
T. Ishizuka;K. Fujioka;I. Mori;Tomofumi Takeda;M. Fuwa;T. Ikeda;K. Taguchi;H. Morita;K. Nakabayashi;H. Niizeki
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文献类型：
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作者：
T. Ishizuka;K. Fujioka;I. Mori;Tomofumi Takeda;M. Fuwa;T. Ikeda;K. Taguchi;H. Morita;K. Nakabayashi;H. Niizeki
摘要男性，41岁，一直抱怨严重的关节痛。既往病史显示肠梗阻12例，胃溃疡13例。从38岁开始，他一直患有多关节痛，尤其是双手的PIP和MP关节。最后，他抱怨PIP和MP关节严重关节痛，手指棍棒状，没有肿胀。生化结果显示类风湿因子和抗CCP抗体阴性，正常的基质金属蛋白酶-3水平，但轻微升高的C反应蛋白和血沉。放射学表现为长骨骨膜增厚，无骨质侵蚀和骨质疏松。他的面部外观是肢端肥大症，皮肤表现为厚皮症和皮肤顶点回旋，没有生长激素反应异常。皮肤组织学结果显示皮脂腺水肿和增生，小血管周围有淋巴细胞渗入，与厚皮骨膜增生症相一致。在该病例中，发现了编码前列腺素转运蛋白的SLCO2A1基因突变。SLCO2A1基因c.940+1G>；A突变导致外显子7缺失和PG转运蛋白截短(p.Arg288Glyfs*7)。我们认为严重的关节痛是由前列腺素E_2的过度产生引起的。还需要进一步的研究。
Abstract Male, 41 years old (yo) had been complaining of severe arthralgia. Past History indicated obstruction of intestinal tract at 12 yo and gastric ulcer at 13 yo. He had been suffered from polyarthralgia especially at PIP and MP joints of both hands from 38 yo. Finally, he complained severe arthralgia at PIP and MP joints with clubbed fingers without swelling. Biochemical finding indicated negative rheumatoid factor and anti-CCP antibody and normal MMP-3 level, but slightly increased CRP and ESR levels. Radiological finding indicated periostosis of long bone without bone erosion and osteoporosis. His facial appearance was acromegalic with cutaneous manifestation of pachydermia and cutis vertices gyrate without abnormal growth hormone response. Histological findings of skin indicated oedema and hyperplasia of sebaceous glands with infiltration of lymphocytes around small blood vessels compatible with pachydermoperiostosis. In this case mutation of SLCO2A1 gene, which coded prostaglandin transport protein, was identified. The mutation c.940 + 1G > A of SLCO2A1 gene results in deletion of exon 7 and truncation of PG transporter (p.Arg288Glyfs*7). We suggest that severe arthralgia was originated from over production of prostaglandin E2. Further studies will be required.