Severe pseudohypoaldosteronism in a pair of twins not associated with hydramnios

Abstract

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.

Potassium-related inherited tubulopathies

“…The consequent polyuria (even during the fetal period) may be the reason for the associated polyhydramnios in pregnancies where the fetus is affected by BS. In contrast, there have been no consistent, genetically well-characterized reports on accompanying polyhydramnios for other tubulopathies, such as type I pseudohypoaldosteronism (PHA) [17] or even nephrogenic diabetes insipidus. Actually, several children who were originally reported to have PHA associated with polyhydramnios [18] are now genetically characterized as having ROMK channel defects.…”

Erythrocyte Na+,K+‐ATPase and nasal potential in pseudohypoaldosteronism*

“…The patients with the severe form of PHA1 (PHA1‐S) have previously been described in detail (Bistritzer et al ., 1996). They were characterized by a multiple organ sodium transport defect.…”

Diagnosis of Hypoaldosteronism in Infancy

“…Patients are insensitive to mineralocorticoids and require high doses of sodium supplementation (between 20 and 50 mEq/kg/d), together with orally administered ion exchange resins and dietary potassium restriction. Although a slight amelioration is observed with ageing, treatment is mandatory throughout life [102,107].…”