Pseudohypoaldosteronism presenting as acute gastroenteritis: report of one case.
Pseudohypoaldosteronism type I, a disorder of mineralocorticoid resistance, usually presents with excessive renal sodium wasting and subsequent poor growth. We report a 1-month-old male baby who suffered from recurrent vomiting, diarrhea and dehydration. Biochemical investigations showed hyponatremia, hyperkalemia, hypochloremia, metabolic acidosis and large amount of urinary sodium excretion. Owing to persistent electrolyte abnormalities and renal salt loss, hormone studies were done and revealed elevated concentrations of cortisol, adrenocorticotropic hormone, aldosterone, renin and 17-hydroxyprogesterone. Blood pressure and plasma sugar were normal. The external genitalia were normal without hyperpigmentation. The laboratory data coupled with clinical presentations suggested pseudohypoaldosteronism type I. Aggressive sodium replacement and fluid therapy were started, with good response.
Yu
Mei-Ching
MC
Division of Medical Genetics, Department of Pediatrics, Chang Gung Children's Hospital, No. 5, Fu-Shin Street, Kuei-Shan, Taoyuan 333, Taiwan.
Hou
Jia-Woei
JW
D000208:Acute Disease; D005759:Gastroenteritis / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008297:Male; D011546:Pseudohypoaldosteronism / Q000175:diagnosis*