Division of Endocrine and Metabolism, Department of Internal Medicine, Faculty of Medicine, Chulalongkorn University, Patumwan, Bangkok, 10330, Thailand.
Endocrine. 2010 Apr;37(2):261-4. doi: 10.1007/s12020-009-9292-x. Epub 2010 Jan 5.
Although hypertension occurring during pregnancies is not uncommon and its prognosis is generally excellent, some of its unusual causes can lead to catastrophic consequences, especially in undiagnosed cases. Here, we report a pregnant woman who presented with hypertension in her early pregnancy. It was subsequently found to be caused by bilateral pheochromocytoma. After removal of both tumors, catecholamine levels unexpectedly and unexplainably remained elevated. At 23 weeks of gestation, the fetus was found dead in utero. After the fetal death, additional studies were performed and revealed a thoracic paraganglioma. To our knowledge, this is the first report of a case of three catecholamine-producing tumors occurring concurrently during a pregnancy. Genetic analysis helped identify this unprecedented condition; the patient harbored a heterozygous missense mutation c.482G>A in exon 3 of the VHL gene, indicating von Hippel-Lindau syndrome. Physicians who care for hypertensive pregnant patients should be aware of this condition as its diagnosis would probably lead to a better outcome.
虽然妊娠期高血压并不少见，且其预后通常较好，但一些不常见的病因可导致灾难性后果，尤其是在未被诊断的情况下。在此，我们报告一例妊娠早期出现高血压的孕妇，其病因被发现是双侧嗜铬细胞瘤。在切除了两个肿瘤后，儿茶酚胺水平出人意料且无法解释地升高。在妊娠 23 周时，胎儿在宫内死亡。胎儿死亡后，进行了额外的检查，发现了一个胸内副神经节瘤。据我们所知，这是首例妊娠期间同时发生三种儿茶酚胺分泌性肿瘤的病例报告。基因分析有助于确定这种前所未有的情况；患者携带 VHL 基因外显子 3 中的杂合错义突变 c.482G>A，提示为 von Hippel-Lindau 综合征。照顾高血压妊娠患者的医生应了解这种情况，因为诊断可能会带来更好的结果。
