Severe pseudohypoaldosteronism in a pair of twins not associated with hydramnios.
A pair of non-identical twins with severe pseudohypoaldosteronism (PHA) were followed over a period of 4 years. The diagnosis was based on dehydration, hyponatremia, hyperkalemia, high urine sodium/potassium ratios, and high serum concentrations of aldosterone and renin. Sweat and saliva electrolyte concentrations were high, suggesting multifocal target-organ unresponsiveness to mineralocorticoids. No hydramnios was observed during pregnancy. Despite continuous treatment with sodium chloride and sodium bicarbonate (< or = 20 g/day) and cation exchange resin (Kayexalate, sodium polystyrene sulfonate, < or = 4 g/kg per day), the children had repeated episodes of dehydration, hyponatremia, and hyperkalemia. Growth velocity was normal in both twins. Catch-up growth was observed following infancy in the first twin. Normalization of plasma aldosterone, electrolytes, and renin concentrations was achieved at the age of 9 months.
Bistritzer
T
T
Department of Pediatrics, Assaf Harofeh Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Israel.
Lahat
E
E
Eshel
G
G
Barr
J
J
Hanukoglu
A
A
Aladjem
M
M
D001827:Body Height; D005260:Female; D005438:Fludrocortisone / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D008297:Male; D008901:Mineralocorticoids / Q000097:blood / Q000502:physiology / Q000627:therapeutic use; D006831:Polyhydramnios / Q000503:physiopathology*; D011247:Pregnancy; D011546:Pseudohypoaldosteronism / Q000188:drug therapy / Q000503:physiopathology*; D014429:Twins, Dizygotic; D015430:Weight Gain
D008901:Mineralocorticoids; D005438:Fludrocortisone