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Isolated hyperchlorhidrosis
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Disease definition
A rare genetic skin disease characterized by excessive salt wasting in sweat, leading to hyponatremic dehydration, hyperkalemia, and poor feeding and slow weight gain in infancy. Laboratory examination shows hyponatremia, hyperkalemia, increased aldosterone, and increased sweat chloride concentrations.
ORPHA:542657
Detailed information
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
Guidelines
Emergency guidelines
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Newborn screening
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