Premenstrual attacks of acute intermittent porphyria: hormonal and metabolic aspects - a case report
Premenstrual attacks of acute intermittent porphyria: hormonal and metabolic aspects - a case report
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DOI：
10.1530/eje.0.1410050
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发表时间：
1999-07-01
影响因子：
5.8
通讯作者：
Van Gaal, LF
中科院分区：
文献类型：
--
作者：
De Block, CEM;De Leeuw, IH;Van Gaal, LF
我们报告的情况下，一个38岁的妇女与急性间歇性卟啉症（AIP）。在观察到患者父亲的急性AIP发作后，在遗传和生化检查后确定了诊断。在29岁时，她的第一个也是唯一的孩子出生后8个月，患者因首次证实的AIP发作而住院，在接下来的几年里，她遭受了多次经前AIP发作，临床症状从腹痛到瘫痪。一次发作伴有尿儿茶酚胺排出量增加，强烈表明肾上腺素能过度活跃。促性腺激素分泌引起的急性发作和抗利尿激素分泌不当综合征引起的严重低钠血症表明下丘脑参与了AIP的发病机制。该患者经历了治疗方案的演变。首先，急性发作通过静脉注射高渗葡萄糖治疗。后来，静脉注射血红素精氨酸盐在解决急性AIP发作方面非常成功，然而，直到开始用LHRH类似物治疗，患者继续遭受经前AIP发作，这些LHRH类似物引起促性腺激素分泌的下丘脑抑制，使内源性卵巢类固醇产生稳定在低水平，因此可以有效预防这种疾病的急性恶化。由于该患者接受了LHRH类似物与最低剂量雌激素贴片组合的固定方案，她的生活质量得到了显著改善，并且她不需要住院治疗，现在已经超过3年了。
We report the case of a 38-year-old woman with acute intermittent porphyria (AIP). Following the observation of an acute AIP attack in the patient's father, the diagnosis was established after genetic and biochemical examinations. At the age of 29, eight months after delivery of her first and only child, the patient was hospitalized due to a first proven attack of AIP, In the following years she suffered several premenstrual AIP attacks, with clinical symptoms ranging from abdominal pain to paralysis. One attack was accompanied by an increased urinary catecholamine output, strongly indicating adrenergic hyperactivity. The precipitation of acute episodes by secretion of gonadotrophins and a severe hyponatraemia due to a syndrome of inappropriate anti-diuretic hormone secretion indicated hypothalamic involvement in the pathogenesis of AIP. This patient has experienced an evolution of treatment regimens. At first, acute attacks were treated by i.v. hypertonic glucose. Afterwards propranolol was instituted as a maintenance therapy, Later on, i.v, injections of haem arginate were very successful in resolving acute AIP episodes, However until therapy with an LHRH analogue was started, the patient continued to suffer premenstrual AIP attacks, These LHRH analogues cause hypothalamic inhibition of gonadotrophin secretion, with stabilization of endogenous ovarian steroid production at a low level, and therefore may be effective in preventing acute exacerbations of this disease. Since this patient went on a fixed regimen of an LHRH analogue combined with the lowest dose oestrogen patch her quality of life has improved substantially and she has not required hospitalization, now for over 3 years.