Congenital nephropathy and chronic diarrhoea with hypokalemic alkalosis.

Abstract

Long-term observation and laboratory investigations of a female infant with chronic diarrhoea, hypokalemia, alkalosis and hypochloremia are presented. Diarrhoea with hypokalemic alkalosis persisted despite large-scale potassium chloride supplementation. An intravenous pyelogram showed duplication of the right pelvis and fetal lobate kidneys. She was normotensive. Plasma renin activity was increased. A permanent loss of electrolytes through urinary and digestive tracts was observed. Renal biopsy revealed the presence of fetal-like glomeruli, hyperplasia of juxtaglomerular apparatus and thickening of arterial walls. Hypertrophy and hyperplasia of the zona glomerulosa of adrenal cortex were present. It is supposed that a case presenting with co-existence of electrolytes disturbances on digestive and urinary tracts stands between congenital chloride diarrhoea and Bartter's syndrome, being an unknown kind of congenital hypokalemia.