Familial hypoaldosteronism (Q84066): Difference between revisions
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| description / pt-br | description / pt-br | ||
Deficiência de aldosterona sintase é um defeito herdado raro da etapa final da biossíntese de aldosterona (conversão de desoxicorticosterona em aldosterona), que geralmente se apresenta na infância como um desequilíbrio eletrolítico com risco de vida (deficiência de crescimento, vômitos recorrentes e desidratação grave). | |||
| description / en | description / en | ||
Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone) that usually presents in infancy as a life-threatening electrolyte imbalance (failure to thrive, recurrent vomiting, and severe dehydration). | |||
Revision as of 09:25, 15 August 2026
Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone) that usually presents in infancy as a life-threatening electrolyte imbalance (failure to thrive, recurrent vomiting, and severe dehydration).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_712299654 |
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| English | Familial hypoaldosteronism |
Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone) that usually presents in infancy as a life-threatening electrolyte imbalance (failure to thrive, recurrent vomiting, and severe dehydration). |
