ESPE Abstracts

Introduction: Pseudohypoaldosteronism (PHA) is a clinical syndrome characterized by multiorgan or isolated renal tubular resistance to the effects of aldosterone, resulting in hyperkalemia, metabolic acidosis, and normal to high serum aldosterone levels. PHA may be primary (hereditary) or secondary (acquired). Primary forms are subclassified into two: PHA type 1 (salt-wasting) and PHA type 2 (salt-retaining). Secondary forms are typically associated with severe urinary tract infections (UTIs), often combined with obstructive congenital anomalies of kidneys and urinary tract (CAKUT). Secondary PHA are mostly seen in the first year of life, mimicking clinically PHA type 1. The electrolyte and acid-base changes are transient and usually determine with healing of the underlying urinary tract disturbance. The unrecognized PHA could lead to life-threatening hyperkalemia with severe dehydration and cardiopulmonary arrest.

Case presentation: We report a 2-year old boy with pseudohypoaldosteronism and CAKUT Till the age of 4 months the boy was admitted at The Clinic of Pediatrics of UMHAT – Pleven twice in life-threatening condition with dehydration, severe hyponatriemia (132-123 mmol/L), extreme hyperkalemia (6,3-8,4 mmol/L), metabolic acidosis (pH 7,29-7,18; BE -18,5) and acute kidney failure. He was undernourished with severe hypotrophy to marasmus. At first hospitalization salt-wasting form of Congenital adrenal hyperplasia (CAH) was excluded and appropriate feeding with hydrolysed formula was started. UTI with Klebsiella pneumoniae from urine culture was proven. Imaging testing was performed and an obstructive CAKUT (posterior urethral valves with bilateral megaureters and hydronephrosis) was detected. Because of the persistent electrolyte disturbances at second admission aldosterone and plasma renin were measured (renin 467,4 mU/L, aldosterone >2 770 pmol/L). Secondary PHA was diagnosed and continuing per oral sodium chloride and bicarbonate supplementation with excellent laboratory results was introduced. Later a stepwise operative correction of the CAKUT was started.

Conclusion: Secondary PHA is a rare clinical condition, but it should be considered in infants with salt wasting and hyperkalemia. In such of cases an early screening for CAKUT should be performed.