[A case of congenital chloridorrhea: the diagnostic contribution of pre- and postnatal echography]

Area of Science:

• Pediatric Gastroenterology
• Medical Genetics
• Neonatology

Background:

• Congenital chloride diarrhea (CCD) is a rare inherited disorder.
• It is characterized by chronic, profuse watery diarrhea from birth.
• The condition stems from a defect in intestinal chloride absorption.

Observation:

• A case of CCD in a preterm female infant is presented.
• The infant experienced severe diarrhea from the moment of birth.
• This led to significant electrolyte and water loss.

Findings:

• The underlying pathology involves impaired active intestinal chloride (Cl-) transport.
• This defect causes substantial gastrointestinal fluid and electrolyte losses.
• Failure to manage these losses can impede growth and harm renal function.

Implications:

• Early diagnosis and intervention are critical for affected infants.
• Adequate replacement therapy is essential to prevent failure to thrive.
• Management aims to mitigate long-term complications, including renal involvement.