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Severe hyperprostaglandin E syndrome with hyperthyroidism — studies of pathogenetic mechanisms
Author(s) -
Fellman V.,
Pihko H.,
Majander A.,
Seyberth H. W.
Publication year - 1996
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799846
Subject(s) - polyuria , medicine , endocrinology , urinary system , metabolite , hypercalciuria , peroxisomal disorder , zellweger syndrome , adrenal disorder , peroxisome , diabetes mellitus , insulin resistance , receptor , glucose homeostasis
Summary 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 E 2 (PGE 2 )‐stimulated hyperthyroidism, an association not previously described. Urinary excretion of PGE 2 and its metabolite 7 α ‐hydroxy‐5,11‐diketotetranorprosta‐1,16‐dioic acid were markedly increased above normal levels (to 53.3 and 1895 ng/h per 1.73 m 2 , respectively). We studied oxidative capacity of peroxisomes and mitochondria, the sites where PGE 2 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.