Prenatal and postnatal management of hyperprostaglandin E syndrome after genetic diagnosis from amniocytes

Objective. To describe prenatal genetic diagnosis in hyperprostaglandin E s yndrome (HPS) and the effect of indomethacin therapy on the course of the d isease before birth and in the neonatal period. Methods. Mutational analysis of the ROMK channel gene (KCNJ1) from amniocyt es by single-strand conformational analysis and direct sequencing. Review o f the clinical and laboratory findings during pregnancy and the neonatal pe riod in two siblings affected with HPS. Results. Compound heterozygosity of the fetus in KCNJ1 (D74Y/P110L) confirm ed the clinical diagnosis of HPS at 26 weeks of gestation. Indomethacin the rapy from 26 to 31 weeks prevented further progression of polyhydramnios wi thout major side effects. In contrast to the elder brother, who had been di agnosed at the age of 2 months, the neonatal course was uncomplicated. Hypo volemic renal failure after excessive renal loss of salt and water could be prevented and severe nephrocalcinosis did not occur. Conclusions. Genetic diagnosis of HPS and subsequent prenatal indomethacin therapy seems to have a beneficial effect on the natural course of HPS, esp ecially progression of polyhydramnios; therefore, extreme prematurity could be prevented. Also, postnatally the early diagnosis allows the effective w ater and electrolyte substitution before severe volume depletion.