Critical Points in the Management of Pseudohypoaldosteronism Type 1

Pseudohypoaldosteronism type 1 (PHA-1, MIM #264350) is caused by defective transepithelial sodium transport. Affected patients develop life-threatening neonatal-onset salt loss, hyperkalemia, acidosis, and elevated aldosterone levels due to end-organ resistance to aldosterone. In this report, we pre...

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Detalles Bibliográficos
Autores principales: Güran, Tülay, Değirmenci, Serpil, Bulut, İpek K., Say, Aysun, Riepe, Felix G., Güran, Ömer
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2011
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3119449/
https://www.ncbi.nlm.nih.gov/pubmed/21750640
http://dx.doi.org/10.4274/jcrpe.v3i2.20
Descripción
Sumario:Pseudohypoaldosteronism type 1 (PHA-1, MIM #264350) is caused by defective transepithelial sodium transport. Affected patients develop life-threatening neonatal-onset salt loss, hyperkalemia, acidosis, and elevated aldosterone levels due to end-organ resistance to aldosterone. In this report, we present a patient diagnosed as PHA-1 who had clinical and laboratory findings compatible with the diagnosis and had genetically proven autosomal recessive PHA-1. The patient received high doses of sodium supplementation and potassium-lowering therapies; however, several difficulties were encountered in the management of this case. The aim of this presentation was to point out the potential pitfalls in the treatment of such patients in the clinical practice and to recommend solutions. Conflict of interest:None declared.

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