Skip to main content

Table 1 Comparison of the clinical phenotype of differential diagnostic disorders

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

Disorder CCD Bartter syndrome Cystic fibrosis
Characteristic
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