THE HYPERPROSTAGLANDIN-E2-SYNDROME

The hyperprostaglandin E2-syndrome (HyperPGE2-syndrome) is an inherite d (autosomal recessive) systemic disease due to increased renal and sy stemic prostaglandin (PG) E2-synthesis. Already prenataly increased PG E2-activity is apparently related to fetal polyuria with the developme nt of polyhydramnion and prematurity. Postnataly these preterm infants develop the following renal symptoms and signs: polyuria with isosten uria, hypokalemic alkalosis, hypercalciuria and nephrocalcinosis. The marked vasodilatory activity of PGE2 Prevents arterial hypertension de spite high plasma renin activity and high plasma levels of aldosteron and vasopressin. In addition the extrarenal manifestation of increased PGE2 synthesis is characterized by fever, diarrhoea, vomiting and ost eolysis with transitory hypercalcaemia. When this becomes manifest the children fail to thrive. Electrolyte imbalances during infectious dis eases can cause life threatening situations. At the present time treat ment with PG cyclooxygenase inhibitors is considered to be the most ef fective therapy for this complex disease indicating the crucial role o f increased PGE2 activity in the pathophysiology of this syndrome. Amo ng the various PG synthesis inhibitors indomethacin has shown to be th e drug of choice. Catch up growth and normal development has been obse rved in these children during closely supervised indomethacin treatmen t. The frequency of this newly described entity has been estimated to be one out of 50,000 newbornes.