Related Subjects:
|Cystic Fibrosis
|Sweat Test
|Encopresis in Children
|Enuresis/Bedwetting in Children
|Acute Glomerulonephritis in Children
|Nephrotic Syndrome in Children
|Acute Appendicitis in Children
|Gastro-oesophageal reflux in Children
|Intussusception in Children
|Panayiotopoulos Syndrome in Children
|Reflex anoxic attacks in Children
|Paediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections
๐ง The Sweat Chloride Test is the gold-standard diagnostic test for Cystic Fibrosis (CF).
๐ A chloride concentration of <40 mmol/L is normal (low risk of CF).
๐ A concentration of >60 mmol/L strongly supports CF diagnosis.
๐ Intermediate (40โ60 mmol/L) is indeterminate โ requires repeat or genetic testing.
๐ฏ Purpose of the Test
- Most reliable diagnostic test for cystic fibrosis in both children and adults.
- CF patients have defective CFTR chloride channels โ reduced chloride reabsorption in sweat ducts โ abnormally salty sweat.
- Used alongside newborn screening and genetic testing for confirmatory diagnosis.
โ๏ธ Procedure
- Induction of Sweat: Pilocarpine iontophoresis (small electrical current drives pilocarpine into skin).
- Collection: Sweat absorbed onto filter paper or microtubes for 30โ60 minutes.
- Measurement: Chloride concentration analysed in a laboratory sweat analyser.
- Caution: Test technically demanding โ must be performed in specialist CF centres.
- False negatives: Most commonly due to oedema, insufficient sweat collection, or poor technique.
โ False-Positive Results (Mimics of CF)
- Atopic eczema (skin barrier dysfunction).
- Adrenal insufficiency (altered salt balance).
- Ectodermal dysplasia.
- Glycogen storage diseases.
- Hypothyroidism.
- Severe dehydration.
- Malnutrition or chronic illness.
๐ Interpretation of Results
| Result (mmol/L) |
Interpretation |
Next Steps |
| <30โ40 |
Normal |
CF very unlikely unless strong clinical suspicion โ consider repeat/genetics if atypical. |
| 40โ60 |
Intermediate |
Borderline โ repeat sweat test, genetic analysis, consider nasal potential difference studies. |
| >60 |
Abnormal |
Strongly supports CF diagnosis (with symptoms/family history). |
๐งช Indications for Testing
- Persistent respiratory infections, chronic productive cough, or bronchiectasis.
- Failure to thrive or steatorrhoea (due to pancreatic insufficiency).
- Positive family history or carrier status of CF gene.
- Abnormal newborn blood spot screening (immunoreactive trypsinogen).
โ ๏ธ Limitations
- Young infants may produce insufficient sweat volume.
- Rare genetic variants โ CF with normal sweat chloride โ need CFTR genetic testing.
- Environmental and technical factors (e.g., dehydration, skin conditions) can affect results.
๐ Follow-up
- Borderline/equivocal results โ repeat sweat test in a reference lab, plus genetic testing.
- Confirmed CF โ early referral to a specialist CF centre for enzyme replacement, airway clearance, nutrition, and multidisciplinary care.
- Ongoing monitoring of lung function, growth, and infection prevention is essential.
๐ฌ๐ง UK Context
- The sweat test is available in specialist cystic fibrosis centres, paediatric respiratory clinics, and major NHS hospitals.
- Included in the UK newborn screening programme (blood spot test), allowing early diagnosis.
- Management follows NICE CF guidelines and the Cystic Fibrosis Trust standards of care.
๐ Key Clinical Pearls
- Always interpret sweat chloride results in the context of clinical features and genetic testing.
- False negatives are rare but dangerous โ donโt exclude CF if strong phenotype present.
- High sweat chloride is pathognomonic for CF in the right clinical setting.