Eicosanoid profiling in patients with complete form of pachydermoperiostosis carrying SLCO2A1 mutations.
Eicosanoid profiling in patients with complete form of pachydermoperiostosis carrying SLCO2A1 mutations.
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携带 SLCO2A1 突变的完全型厚皮骨膜增生症患者的类二十烷酸分析。
DOI：
10.1111/1346-8138.16012
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发表时间：
2021
影响因子：
3.1
通讯作者：
Kabashima K.
中科院分区：
文献类型：
--
作者：
Oiwa T.;Ishibashi M.;Okuno T.;Ohba M.;Endo Y.;Uozumi R.;Ghazawi F.M.;Yoshida K.;Niizeki H.;Yokomizo T.;Nomura T.;Kabashima K.
骨膜肥厚症 (PDP) 是一种由 HPGDorSLCO2A1 突变引起的以杵状指、骨膜增生和厚皮症为特征的遗传性疾病。这些患者的血浆前列腺素 (PG)E2 水平升高。然而，其他类二十烷酸尚未定量。我们的目的是通过高效液相色谱-串联质谱法定量四名携带 SLCO2A1 突变的患者的血浆类二十烷酸水平。所有患者的 PGE2 水平均升高；一些患者的 PGD2 和 11β-PGF2α 水平也升高，而所有患者的二十碳五烯酸、二十二碳六烯酸和花生四烯酸水平均降低。我们的数据表明，携带 SLCO2A1 突变的完整 PDP 患者存在类二十烷酸稳态功能障碍和不同水平的 PG。 PGE2 水平似乎主要影响症状，其他类二十烷酸可能影响较小。
Pachydermoperiostosis (PDP) is a genetic disease characterized by digital clubbing, periostosis, and pachydermia caused by mutatedHPGDorSLCO2A1. Plasma prostaglandin (PG)E2levels are increased in these patients. However, other eicosanoids have not been quantitated. We aimed to quantitate plasma eicosanoid levels in four patients carryingSLCO2A1mutations by high‐performance liquid chromatography–tandem mass spectrometry. PGE2level was elevated in all patients; PGD2and 11β‐PGF2α levels were also increased in some patients, whereas eicosapentaenoic acid, docosahexaenoic acid, and arachidonic acid levels were decreased in all patients. Our data indicate a dysfunctional eicosanoid homeostasis and varied levels of PG in patients with a complete form of PDP carryingSLCO2A1mutations. PGE2levels seem to mostly affect the symptoms, with other eicosanoids possibly having a minor effect.