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Ізольований гіперхлоргідроз

ORPHA:542657· ICD-10 L98.8· Isolated hyperchlorhidrosis

Визначення(English summary)

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.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal recessive
Вік початку
Infancy