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.
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Authors | Tülay Güran, Serpil Değirmenci, İpek K Bulut, Aysun Say, Felix G Riepe, Ömer Güran |
Journal | Journal of clinical research in pediatric endocrinology
(J Clin Res Pediatr Endocrinol)
Vol. 3
Issue 2
Pg. 98-100
( 2011)
ISSN: 1308-5735 [Electronic] Turkey |
PMID | 21750640
(Publication Type: Case Reports, Journal Article)
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Copyright | ©Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing. |
Chemical References |
- Cation Exchange Resins
- Epithelial Sodium Channels
- Potassium, Dietary
- SCNN1A protein, human
- Sodium Chloride, Dietary
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Topics |
- Cation Exchange Resins
(administration & dosage)
- Epithelial Sodium Channels
(genetics)
- Female
- Fluid Therapy
- Genes, Recessive
- Humans
- Infant, Newborn
- Point Mutation
- Potassium, Dietary
(administration & dosage)
- Pseudohypoaldosteronism
(diagnosis, genetics, therapy)
- Sodium Chloride, Dietary
(administration & dosage)
- Water-Electrolyte Imbalance
(therapy)
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