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Generalized pseudohypoaldosteronism type 1
A severe form of pseudohypoaldosteronism type 1 characterized by salt wasting in multiple organs including the kidney, colon, and sweat and salivary glands. Presentation is in the first few weeks of life with severe dehydration, vomiting and failure to thrive in association with hyponatremia, hyperkalemia and metabolic acidosis as well as elevated aldosterone and renin levels. No remission is reported and patients suffer from recurrent life-threatening episodes of salt loss.
ORPHA:171876Classification level: Subtype of disorder
A summary on this disease is available in Deutsch (2009) Italiano (2009) Español (2021) Français (2021) Nederlands (2021) Português (2021)
- Article for general public
- Svenska (2019) - Socialstyrelsen
: produced/endorsed by FSMR(s)
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