Question

Chloride level in sweat is used in the diagnosis of which disease? 

• A. Phenylketonuria
• B. Cystic fibrosis
• C. Gaucher's disease
• D. Osteogenesis imperfecta

Answer 1

The Correct Option is B

The chloride level in sweat is a diagnostic indicator for cystic fibrosis. This condition is a genetic disorder that affects the respiratory and digestive systems. By performing a sweat test, which measures the concentration of chloride excreted in sweat, healthcare professionals can diagnose cystic fibrosis. An elevated chloride level typically indicates a positive result for the disease.

Explanation:

• Phenylketonuria: A metabolic disorder unrelated to sweat chloride levels; diagnosed through blood tests detecting phenylalanine levels.
• Cystic fibrosis: The sweat test reveals high chloride content, indicative of CFTR protein defects causing imbalance, leading to cystic fibrosis.
• Gaucher's disease: A lysosomal storage disorder diagnosed by enzyme activity measurements or genetic testing, not sweat tests.
• Osteogenesis imperfecta: Characterized by bone fragility, diagnosed based on clinical evaluation and genetic testing, not sweat chloride levels.