title: Pseudohypoaldosteronism in a female infant and her family: diversity of clinical expression and mode of inheritance.
abstract: Pseudohypoaldosteronism was diagnosed in an infant that clinically presented severe failure to thrive and vomiting. Evaluation of her extended family revealed many other affected family members with a vast range of clinical expression. The mode of inheritance is most likely autosomal dominant. Salt supplementation during infancy was effective in restoring normal growth, weight gain and serum electrolytes.
mesh_terms: D000328:Adult; D000450:Aldosterone / Q000378:metabolism*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D015499:Renal Tubular Transport, Inborn Errors / Q000235:genetics*; D012965:Sodium Chloride / Q000652:urine*; D013577:Syndrome
chemical_list: D012965:Sodium Chloride; D000450:Aldosterone