Cases reported "Pseudohypoaldosteronism"

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1/4. Salt losing nephropathy simulating congenital adrenal hyperplasia in an infant.

    Pseudo-hypoaldosteronism occurring predominately in male infants has been reported in association with a spectrum of urologic diseases including obstructive uropathy. This is thought to reflect tubule unresponsiveness to aldosterone. We report a case, which was misdiagnosed as a case of congenital adrenal hyperplasia and treated inappropriately with hydrocortisone and fludrocortisone for 12-months before he had a urinary tract infection and was discovered to have obstructive uropathy on ultrasound. He presented with vomiting, dehydration, hyperkalemia, hyponatremia and metabolic acidosis. His initial 17 hydroxyprogestrone was high. His electrolytes improved to normal after relieving the obstruction by vesicostomy and his treatment weaned slowly without complications. This case demonstrates the importance of urine culture and ultrasound examination in suspected cases of pseudo-hypoaldosteronism.
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2/4. pseudohypoaldosteronism type 1 and respiratory distress syndrome.

    We present a patient born at 31 weeks gestation with respiratory distress syndrome (RDS) which did not respond to surfactant. He also developed hyponatremia, hyperkalemia and dehydration with increased sweat electrolytes despite high levels of serum aldosterone, thus systemic pseudohypoaldosteronism type 1 (PHA-1) diagnosis was made. Systemic PHA-1 is caused by mutations of amiloride-sensitive epithelial sodium channel (ENaC) genes. Because ENaC is a rate-limiting step for sodium absorption by epithelial cells, not only of the renal tubule but also of the lung epithelium, patients with PHA-1 with pulmonary symptoms have sometimes been reported. However, our patient appears to be the second reported human case of both neonatal RDS and PHA-1, and the first description, with increased sweat electrolytes, of a premature baby with systemic PHA-1 and RDS.
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3/4. Long term observations in a patient with pseudohypoaldosteronism.

    This paper describes a patient with severe pseudohypoaldosteronism (PHA) for over 12 years. The patient presented at 10 days of age with a serum sodium of 118 mEq/l and potassium of 12 mEq/l. After failing to maintain normal fluid and electrolyte status with standard therapy, including maximal mineralocorticoid stimulation, he was given a special formula containing minimal potassium plus salt supplements which normalized his electrolyte status. However, when he was 4.5 years of age, an acute gastrointestinal illness led to severe volume depletion, hyperkalemia, and cardiopulmonary arrest. This resulted in significant neurological impairment. At 12.5 years of age, the patient continues to require massive sodium supplements and his diet contains less than 0.5 mEq/kg potassium daily; his height and weight are at the 95th percentile, thus demonstrating that normal growth may be achieved with strict dietary manipulation in a patient with persistent, severe PHA. Serial studies to further define the lesion in this patient have demonstrated: (1) normal binding of aldosterone to aldosterone binding globulin (5.1% bound); (2) normal mineralocorticoid "activity"; (2) suppressible renin and aldosterone levels; (4) increased prostaglandin excretion (3.15 micrograms/g creatinine); (5) lack of benefit of prostaglandin inhibition with indomethacin; (6) normal proximal tubule function (CNa CH2O = 18.0 ml/100 ml glomerular filtration rate; (7) impaired distal tubule function (CH2O/CNa CH2O = 79.8%) during water diuresis.
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keywords = tubule
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4/4. Bartter's syndrome associated with severe retinopathy and presenting as pseudohypoaldosteronism in a newborn.

    Various pathophysiological explanations for Bartter's syndrome have been put forward since the condition was first described in 1962. It is currently thought that reduced reabsorption of sodium chloride in the distal tubule of the loop of Henle and the collecting ducts leads to secondary hyperkaluria and hypokalaemic metabolic alkalosis. We describe a 9 1/2-year-old boy with Bartter's syndrome and severe retinopathy whose features may be those of a previously unrecognized disorder.
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