| Autor: |
Coelho Almeida, André, Bastos Gomes, Mariana, Martins, Sofia A., Marques, Olinda P., Gomes, Maria Miguel, Antunes, Ana M. |
| Zdroj: |
Journal of Pediatric Endocrinology & Metabolism; Nov2022, Vol. 35 Issue 11, p1448-1452, 5p |
| Abstrakt: |
Type 1 pseudohypoaldosteronism (PHA-1) is a rare genetic syndrome of unresponsiveness to aldosterone and presents in the neonatal period with hyperkalemia, hyponatremia and metabolic acidosis. The mortality rate can be high and multidisciplinary team is needed for optimal management and adequate growth and development of these patients. Many genotype-phenotype correlations remain uncertain, and the description of the evolution of cases can increase scientific knowledge about the psychomotor development and severity of the different mutations. We report the follow-up for the last 10 years of a patient, with previously unrecognized genetic findings identified. In addition, we reviewed the literature and compared it with other pediatric cases. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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