Fellman V, Pihko H, Majander A, Seyberth H W
Children's Hospital, University of Helsinki, Finland.
J Inherit Metab Dis. 1996;19(5):687-94. doi: 10.1007/BF01799846.
Hyperprostaglandin E syndrome is a rare disease usually presenting with renal symptoms such as polyuria, polyhydramnios, hypercalciuria, hypokalaemia, and recurrent episodes of extreme fever, diarrhoea, and convulsions. We report a severe variant of this syndrome with obvious pain and prostaglandin E2 (PGE2)-stimulated hyperthyroidism, an association not previously described. Urinary excretion of PGE2 and its metabolite 7 alpha-hydroxy-5,11-diketotetranorprosta-1,16-dioic acid were markedly increased above normal levels (to 53.3 and 1895 ng/h per 1.73 m2, respectively). We studied oxidative capacity of peroxisomes and mitochondria, the sites where PGE2 oxidation takes place. A generalized mitochondrial disease could be ruled out and no deficiency was found in liver peroxisomal oxidases. The basic pathology of hyperprostaglandin E syndrome remains unsolved.
高前列腺素E综合征是一种罕见疾病,通常表现为肾脏症状,如多尿、羊水过多、高钙尿症、低钾血症,以及反复出现的高热、腹泻和惊厥。我们报告了该综合征的一种严重变体,伴有明显疼痛和前列腺素E2(PGE2)刺激的甲状腺功能亢进,此前未描述过这种关联。PGE2及其代谢产物7α-羟基-5,11-二酮四降前列腺-1,16-二酸的尿排泄量显著高于正常水平(分别为每1.73 m² 53.3和1895 ng/h)。我们研究了过氧化物酶体和线粒体(PGE2氧化发生的部位)的氧化能力。可以排除全身性线粒体疾病,且未发现肝脏过氧化物酶体氧化酶缺乏。高前列腺素E综合征的基本病理仍未解决。