Bonnin A, Gardie B, Girodon F, Airaud F, Garrec C, Bézieau S, Vignon G, Mottaz P, Labrousse J, Lellouche F
Service de médecine interne, centre hospitalier de Royan, 20, avenue de Saint-Sordelin, 17640 Vaux sur mer, France.
École pratique des hautes études (EPHE), PSL research university, les Patios Saint-Jacques, 4-14, rue Ferrus, 75014 Paris, France; Inserm, centre national de la recherche scientifique (CNRS), institut du thorax, université de Nantes, 8, quai Moncousu, 44007 Nantes, France; Laboratory of excellence GR-Ex, Paris, France.
Rev Med Interne. 2020 Mar;41(3):196-199. doi: 10.1016/j.revmed.2019.12.019. Epub 2020 Jan 21.
The origin of polycythemia is often simple to detect. Sometimes it is necessary to look for hereditary forms, the decisive parameters being the dosage of erythropoietin and the measurement of the oxygen dissociation curve (P50). These rare diseases are related to high oxygen-affinity haemoglobins, abnormalities of the erythropoietin receptor or dysfunction of the HIF (hypoxia-inducible factor) pathway.
We report the case of a 56-year-old patient with unexplained polycythemia associated with normal serum erythropoietin and normal P50, in whom the never previously described mutation c.400C>T(p.Gln134*) on exon 1 in the EGLN1 gene (encoding PHD2) was found.
In the face of an unexplained polycythemia a good cooperation between clinicians and biologists is necessary to be able to characterize rare hereditary pathologies.
真性红细胞增多症的病因通常易于查明。有时有必要寻找遗传性类型，决定性参数是促红细胞生成素的剂量和氧解离曲线（P50）的测定。这些罕见疾病与高氧亲和力血红蛋白、促红细胞生成素受体异常或低氧诱导因子（HIF）途径功能障碍有关。
我们报告一例56岁患者，患有无法解释的真性红细胞增多症，血清促红细胞生成素正常且P50正常，在该患者中发现了EGLN1基因（编码PHD2）外显子1上以前从未描述过的c.400C>T（p.Gln134*）突变。
面对无法解释的真性红细胞增多症，临床医生和生物学家之间需要良好合作，以便能够对罕见的遗传性疾病进行特征描述。
