Abnormal sweat electrolytes in symptomatic human immunodeficiency virus infection in a child

Area of Science:

• Pediatrics
• Infectious Diseases
• Genetics

Background:

• Cystic fibrosis (CF) is a genetic disorder typically presenting with failure to thrive, respiratory, and gastrointestinal symptoms.
• Diagnostic criteria for CF include elevated sweat sodium concentrations and specific clinical manifestations.

Observation:

• A 3.5-year-old girl exhibited symptoms suggestive of CF, including failure to thrive, diarrhea, and recurrent cough.
• Atypical findings included unusual microbial infections (Haemophilus influenzae, Candida albicans), lack of Staphylococcus aureus, poor treatment response, and fluctuating sweat sodium levels with fludrocortisone.
• Further investigations revealed hyperglobulinemia, neutropenia, and reduced T4 lymphocytes, prompting HIV testing.

Findings:

• The patient tested positive for human immunodeficiency virus (HIV).
• Her parents and siblings also tested positive for HIV, although they had normal sweat sodium concentrations.
• Treatment with co-trimoxazole, zidovudine, and human immunoglobulin was initiated.

Implications:

• This case highlights the importance of considering HIV in pediatric patients presenting with symptoms mimicking CF, especially when atypical features are present.
• Routine HIV screening should be considered for children with CF-like symptoms who do not respond to standard CF treatments or exhibit unusual clinical or laboratory findings.
• Early identification and management of HIV are critical for improving outcomes in affected children and families.