Document Detail

Prenatal and postnatal management of hyperprostaglandin E syndrome after genetic diagnosis from amniocytes.
MedLine Citation:
PMID:  10049979     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To describe prenatal genetic diagnosis in hyperprostaglandin E syndrome (HPS) and the effect of indomethacin therapy on the course of the disease before birth and in the neonatal period. METHODS: Mutational analysis of the ROMK channel gene (KCNJ1) from amniocytes by single-strand conformational analysis and direct sequencing. Review of the clinical and laboratory findings during pregnancy and the neonatal period in two siblings affected with HPS. RESULTS: Compound heterozygosity of the fetus in KCNJ1 (D74Y/P110L) confirmed the clinical diagnosis of HPS at 26 weeks of gestation. Indomethacin therapy from 26 to 31 weeks prevented further progression of polyhydramnios without major side effects. In contrast to the elder brother, who had been diagnosed at the age of 2 months, the neonatal course was uncomplicated. Hypovolemic 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, especially progression of polyhydramnios; therefore, extreme prematurity could be prevented. Also, postnatally the early diagnosis allows the effective water and electrolyte substitution before severe volume depletion.
M Konrad; A Leonhardt; P Hensen; H W Seyberth; A Köckerling
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Pediatrics     Volume:  103     ISSN:  1098-4275     ISO Abbreviation:  Pediatrics     Publication Date:  1999 Mar 
Date Detail:
Created Date:  1999-03-30     Completed Date:  1999-03-30     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0376422     Medline TA:  Pediatrics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  678-83     Citation Subset:  AIM; IM    
Department of Pediatrics, Philipps University, Marburg, Germany.
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MeSH Terms
Amniotic Fluid / cytology*
Bartter Syndrome / diagnosis,  genetics*,  ultrasonography
DNA Mutational Analysis*
Indomethacin / therapeutic use
Infant, Newborn
Kidney / ultrasonography
Polyhydramnios / drug therapy
Polymorphism, Single-Stranded Conformational
Potassium Channels
Prenatal Diagnosis*
Prostaglandins E / blood*
Reg. No./Substance:
0/Potassium Channels; 0/Prostaglandins E; 53-86-1/Indomethacin
Comment In:
Pediatrics. 1999 Mar;103(3):663-4   [PMID:  10049972 ]

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