Pseudohypoaldosteronism type 1 (Q44711): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
Pseudo-hipoaldosteronismo tipo 1 (PHA1) são formas raras de resistência aos mineralocorticoides. PHA1 se apresenta no recém-nascido com perda renal de sal, déficit de crescimento e desidratação. Duas formas clínicas foram descritas: i) uma forma renal (PHA1 renal) que melhora com a idade e na qual a resistência aos mineralocorticoides está restrita ao rim, e ii) uma forma grave generalizada (PHA1 generalizada) que persiste na idade adulta e na qual o mineralocorticoide a resistência é sistêmica e a perda de sal ocorre em vários órgãos. A herança pode ser autossômica recessiva (arPHA1), que é mais grave e persistente do que a forma autossômica dominante (AdPHA1) | |||
| description / en | description / en | ||
Pseudohypoaldosteronism type 1 (PHA1) are rare forms of mineralocorticoid resistance. PHA1 presents in the newborn with renal salt wasting, failure to thrive and dehydration. Two clinical forms have been described: i) a renal form (renal PHA1) that improves with age and in which mineralocorticoid resistance is restricted to the kidney, and ii) a generalised severe form (generalised PHA1) that persists into adulthood and in which mineralocorticoid resistance is systemic and salt loss occurs in multiple organs. Inheritance can be autosomal recessive (arPHA1) which is more severe and persistent than the autosomal dominant form (AdPHA1) | |||
Revision as of 12:18, 13 August 2026
Pseudohypoaldosteronism type 1 (PHA1) are rare forms of mineralocorticoid resistance. PHA1 presents in the newborn with renal salt wasting, failure to thrive and dehydration. Two clinical forms have been described: i) a renal form (renal PHA1) that improves with age and in which mineralocorticoid resistance is restricted to the kidney, and ii) a generalised severe form (generalised PHA1) that persists into adulthood and in which mineralocorticoid resistance is systemic and salt loss occurs in multiple organs. Inheritance can be autosomal recessive (arPHA1) which is more severe and persistent than the autosomal dominant form (AdPHA1)
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | GB90.41 |
||
| English | Pseudohypoaldosteronism type 1 |
Pseudohypoaldosteronism type 1 (PHA1) are rare forms of mineralocorticoid resistance. PHA1 presents in the newborn with renal salt wasting, failure to thrive and dehydration. Two clinical forms have been described: i) a renal form (renal PHA1) that improves with age and in which mineralocorticoid resistance is restricted to the kidney, and ii) a generalised severe form (generalised PHA1) that persists into adulthood and in which mineralocorticoid resistance is systemic and salt loss occurs in multiple organs. Inheritance can be autosomal recessive (arPHA1) which is more severe and persistent than the autosomal dominant form (AdPHA1) |
