Congenital chloride diarrhoea

BMJ Case Rep. 2019 Dec 10;12(12):e229012. doi: 10.1136/bcr-2018-229012.


Congenital chloride diarrhoea is one of the rare causes of diarrhoea during infancy and it is infrequently reported throughout the world. It is an autosomal recessive condition which is more prevalent in Poland, Finland, Saudi Arabia and Kuwait while rarely reported in Pakistan. Our patient was 7.5-month-old baby boy who presented with diarrhoea since neonatal period. He had consanguineous parents. On examination, baby had distended abdomen, hypotonia and hyporeflexia. Investigations revealed hypochloremic hypokalemic metabolic alkalosis. Urinary electrolytes were normal. Stool electrolytes revealed increased stool chloride excretion that confirmed our diagnosis of congenital chloride diarrhoea. Patient was treated with intravenous fluids and electrolyte replacement, followed by oral potassium and sodium replacement. He was also started on butyrate, cholestyramine and proton-pump inhibitors. He started gaining weight during his hospital admission and is being followed up in clinic.

Keywords: gastrointestinal system; paediatrics (drugs and medicines).

Publication types

  • Case Reports

MeSH terms

  • Consanguinity
  • Diarrhea / congenital*
  • Diarrhea / diagnosis
  • Diarrhea / therapy
  • Electrolytes / metabolism*
  • Electrolytes / therapeutic use
  • Feces / chemistry*
  • Fluid Therapy
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / therapy
  • Pakistan
  • Potassium / metabolism*
  • Potassium / therapeutic use
  • Sodium / metabolism*
  • Sodium / therapeutic use
  • Treatment Outcome
  • Weight Gain / physiology


  • Electrolytes
  • Sodium
  • Potassium

Supplementary concepts

  • Congenital chloride diarrhea