title: Critical points in the management of pseudohypoaldosteronism type 1.
abstract: 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.
authors.affiliation: Zeynep Kamil Maternity and Childrens' Diseases Training and Research Hospital, Division of Pediatric Endocrinology and Diabetes, Istanbul, Turkey. tulayguran@yahoo.com
authors.forename: Tülay
authors.initials: T
authors.lastname: Güran
authors.forename: Serpil
authors.initials: S
authors.lastname: Değirmenci
authors.forename: İpek K
authors.initials: İK
authors.lastname: Bulut
authors.forename: Aysun
authors.initials: A
authors.lastname: Say
authors.forename: Felix G
authors.initials: FG
authors.lastname: Riepe
authors.forename: Ömer
authors.initials: Ö
authors.lastname: Güran
mesh_terms: D002411:Cation Exchange Resins / Q000008:administration & dosage; D053503:Epithelial Sodium Channels / Q000235:genetics; D005260:Female; D005440:Fluid Therapy; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D017354:Point Mutation; D017419:Potassium, Dietary / Q000008:administration & dosage; D011546:Pseudohypoaldosteronism / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D017673:Sodium Chloride, Dietary / Q000008:administration & dosage; D014883:Water-Electrolyte Imbalance / Q000628:therapy
chemical_list: D002411:Cation Exchange Resins; D053503:Epithelial Sodium Channels; D017419:Potassium, Dietary; C507045:SCNN1A protein, human; D017673:Sodium Chloride, Dietary