Pseudohypoaldosteronisms, report on a 10-patient series.

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Serval ID
serval:BIB_0514CC2B2FA8
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Pseudohypoaldosteronisms, report on a 10-patient series.
Journal
Nephrology, Dialysis, Transplantation
Author(s)
Belot A., Ranchin B., Fichtner C., Pujo L., Rossier B.C., Liutkus A., Morlat C., Nicolino M., Zennaro M.C., Cochat P.
ISSN
1460-2385[electronic]
Publication state
Published
Issued date
2008
Volume
23
Number
5
Pages
1636-1641
Language
english
Notes
Publication types: Case Reports ; Journal Article ; Multicenter Study
Abstract
BACKGROUND: Type 1 pseudohypoaldosteronism (PHA1) is a salt-wasting syndrome caused by mineralocorticoid resistance. Autosomal recessive and dominant hereditary forms are caused by Epithelial Na Channel and Mineralocorticoid Receptor mutation respectively, while secondary PHA1 is usually associated with urological problems. METHODS: Ten patients were studied in four French pediatric units in order to characterize PHA1 spectrum in infants. Patients were selected by chart review. Genetic, clinical and biochemistry data were collected and analyzed. RESULTS: Autosomal recessive PHA1 (n = 3) was diagnosed at 6 and 7 days of life in three patients presenting with severe hyperkalaemia and weight loss. After 8 months, 3 and 5 years on follow-up, neurological development and longitudinal growth was normal with high sodium supplementation. Autosomal dominant PHA1 (n = 4) was revealed at 15, 19, 22 and 30 days of life because of failure to thrive. At 8 months, 3 and 21 years of age, longitudinal growth was normal in three patients who were given salt supplementation; no significant catch-up growth was obtained in the last patient at 20 months of age. Secondary PHA1 (n = 3) was diagnosed at 11, 26 days and 5 months of life concomitantly with acute pyelonephritis in three children with either renal hypoplasia, urinary duplication or bilateral megaureter. The outcome was favourable and salt supplementation was discontinued after 3, 11 and 13 months. CONCLUSIONS: PHA1 should be suspected in case of severe hyperkalemia and weight loss in infants and need careful management. Pathogenesis of secondary PHA1 is still challenging and further studies are mandatory to highlight the link between infection, developing urinary tract and pseudohypoaldosteronism.
Keywords
Epithelial Sodium Channel/chemistry, Epithelial Sodium Channel/genetics, Female, Genes, Dominant, Genes, Recessive, Humans, Infant, Infant, Newborn, Male, Models, Molecular, Mutation, Pseudohypoaldosteronism/classification, Pseudohypoaldosteronism/diagnosis, Pyelonephritis/complications, Receptors, Mineralocorticoid/genetics, Retrospective Studies, Urinary Tract/abnormalities
Pubmed
Web of science
Open Access
Yes
Create date
29/10/2009 18:22
Last modification date
23/11/2020 12:06
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