Clinical findings in 21 Finnish children with congenital chloride diarrhoea are reported. Inheritance of this disease by the autosomal recessive mode is established. All children were born 1-8 weeks prematurely. Hydramnios was present in every case and no meconium was observed; intrauterine onset of diarrhoea is thus apparent. In most cases the diarrhoea or passing of large volumes of "urine" was noted on the first day of life and the abdomen was usually large and distended. The neonatla weight loss was abnormally large, and was associated with hypochloraemia and hyponatraemia. Some infants survived the neonatal period without adequate therapy. They presented later with failure to thrive and usually had hypochloraemia, hypokalaemia, and metabolic alkalosis associated with hyperaldosteronism. However, these features may be absent and the diagnosis is based on a history of hydramnios and diarrhoea, and a faecal Cl- concentration which always exceeds 90 mmol/l when fluid and electrolyte deficits have been corrected. Lower faecal Cl- concentrations were seen only in chronic hypochloraemia, which is also associated with achloriduria. Adequate treatment consists of full continuous replacement of the faecal losses of water, NaCl, and KCl. This should be given intravenously in the early neonatal period; later a solution can be taken orally with meals. The dose has to be adjusted to maintain normal serum electrolyte concentrations, normal blood pH, and some chloriduria. This therapy prevents the renal lesions and the retarded growth and psychomotor development which were seen in the children who were diagnosed late and in those who received inadequate replacement therapy. The watery diarrhoea persists and increases slightly with age, though patients learn to live with their disease and to make an adequate social adjustment.

https://adc.bmj.com/content/archdischild/52/4/255.full.pdf

Congenital chloride diarrhoea. Clinical analysis of 21 Finnish patients.

Congenital chloride diarrhoea was diagnosed in 16 Kuwaiti children over a 7 year period (1980–1986) with an estimated incidence of 7.6 per 100,000 live births. The mean age at diagnosis was 3.2 months (range 1 week to 5 months). There were 9 boys and 7 girls with a mean age of 3 years 10 months (range 10 months to 7 years). All children had a shortened gestational period, abdominal distension and chronic diarrhoea. The serum electrolytes in all patients prior to treatment showed hyponatraemia, hypokalaemia, hypochloraemia and metabolic alkalosis. The diagnosis was confirmed by a stool chloride content that exceeded the sum of faecal sodium and potassium. Fifteen patients survived and showed catch-up growth with adequate replacement therapy and 1 died with renal failure.

Congenital chloride diarrhoea in Kuwaiti children.

Long-term observation and laboratory investigations of a female infaut with chronic diarrhoea, hypokalemia, alkalosis and hypochloremia are presented. Diarrhoea with hypokalemie 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.

Hager-Malecka B

Papers

Congenital nephropathy and chronic diarrhea with hypokalemic alkalosis