This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Konrad, M.
Right arrow Articles by Köckerling, A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Konrad, M.
Right arrow Articles by Köckerling, A.
Related Collections
Right arrow Nutrition & Metabolism

PEDIATRICS Vol. 103 No. 3 March 1999, pp. 678-683

EXPERIENCE AND REASON:
Prenatal and Postnatal Management of Hyperprostaglandin E Syndrome After Genetic Diagnosis From Amniocytes

Received Apr 9, 1998; accepted Sep 18, 1998.

Martin Konrad, Andreas Leonhardt, Peter Hensen, Hannsjörg W. Seyberth, and Arnold Köckerling

Department of Pediatrics Philipps University Marburg, Germany

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.hyperprostaglandin E syndrome, Bartter syndrome, ROMK, indomethacin. .




This article has been cited by other articles:


Home page
 Cardiovasc ResHome page
N. Decher, V. Renigunta, M. Zuzarte, M. Soom, S. H. Heinemann, K. W. Timothy, M. T. Keating, J. Daut, M. C. Sanguinetti, and I. Splawski
Impaired interaction between the slide helix and the C-terminus of Kir2.1: A novel mechanism of Andersen syndrome
Cardiovasc Res, September 1, 2007; 75(4): 748 - 757.
[Abstract] [Full Text] [PDF]

Home page
 Am. J. Physiol. Regul. Integr. Comp. Physiol.Home page
N. Jeck, K. P. Schlingmann, S. C. Reinalter, M. Komhoff, M. Peters, S. Waldegger, and H. W. Seyberth
Salt handling in the distal nephron: lessons learned from inherited human disorders
Am J Physiol Regulatory Integrative Comp Physiol, April 1, 2005; 288(4): R782 - R795.
[Abstract] [Full Text] [PDF]

Home page
 PediatricsHome page
H. Shalev, M. Ohali, L. Kachko, and D. Landau
The Neonatal Variant of Bartter Syndrome and Deafness: Preservation of Renal Function
Pediatrics, September 1, 2003; 112(3): 628 - 633.
[Abstract] [Full Text] [PDF]

Home page
 PediatricsHome page
N. Jeck, S. C. Reinalter, T. Henne, W. Marg, R. Mallmann, K. Pasel, M. Vollmer, G. Klaus, A. Leonhardt, H. W. Seyberth, et al.
Hypokalemic Salt-Losing Tubulopathy With Chronic Renal Failure and Sensorineural Deafness
Pediatrics, July 1, 2001; 108(1): e5 - 5.
[Abstract] [Full Text] [PDF]

Home page
 PediatricsHome page
J. Rodriguez-Soriano
Bartter's Syndrome Comes of Age
Pediatrics, March 1, 1999; 103(3): 663 - 663.
[Full Text]