Abstract | UNLABELLED:
Cystic fibrosis (CF) is an inherited disorder with a devastating prognosis. Determination of chloride concentration in sweat has been the gold standard test for diagnosing CF for over 50 years and still remains the primary screening test. However, now that the genetic cause is known and can be studied, genetic confirmation is mandatory in every suspected patient. We present a patient who had been clinically diagnosed and whose genetic testing could not confirm CF, leading us to search for other options that may also give a positive sweat test. The patient turned out to suffer type 1 pseudohypoaldosteronism, a condition that may cause severe dehydration, hyponatremia and hyperkalemia episodes if not diagnosed and treated early with sodium supplementation. We found a genetic variation in the epithelial sodium channel gene which has not been reported previously, and we discuss the possibility of it being the cause of our patient's phenotype. CONCLUSION:
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Authors | Francisco Mora-Lopez, Manuel Bernal-Quiros, Alfonso M Lechuga-Sancho, Jose Luis Lechuga-Campoy, Nestor Hernandez-Trujillo, Antonio Nieto |
Journal | European journal of pediatrics
(Eur J Pediatr)
Vol. 171
Issue 6
Pg. 997-1000
(Jun 2012)
ISSN: 1432-1076 [Electronic] Germany |
PMID | 22371258
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Epithelial Sodium Channels
- Genetic Markers
- SCNN1A protein, human
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Topics |
- Cystic Fibrosis
(diagnosis)
- Diagnostic Errors
- Epithelial Sodium Channels
(genetics)
- Female
- Genetic Markers
- Humans
- Infant
- Point Mutation
- Pseudohypoaldosteronism
(diagnosis, genetics)
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