Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case report

Table 1 Comparison of the clinical phenotype of differential diagnostic disorders

Disorder	CCD	Bartter syndrome	Cystic fibrosis
Characteristic	CCD	Bartter syndrome	Cystic fibrosis
Onset of disease	Presents early in neonates	Presents in infants, but can present later	Presents primarily in neonates and infants
Cl⁻ concentration in urine	Low	High	Low
Cl⁻ concentration in stool	Elevated in watery stool	Not detected in normal stool	Not detected in fatty or normal stool
Sweat Cl⁻ test results	Can be elevated	Normal	High
Blood pH	Metabolic alkalosis	Metabolic alkalosis	Metabolic alkalosis
Possible electrolyte disturbances	Hyponatremia, hypochloremia and hypokalemia	Hyponatremia, hypochloremia and hypokalemia	Hyponatremia, hypochloremia and hypokalemia

ISSN: 1471-2431