Case reportsAn unusual presentation of cystic fibrosis in an adult
Section snippets
First admission
In mid-July, a 36-year-old white man presented to a local hospital with complaints of generalized weakness, muscle cramping, and lightheadedness. He recently had begun working outdoors in a hot, humid climate and experienced excessive perspiration. There was a history of similar symptoms, with a more mild presentation not requiring hospitalization, when he had been subjected to similar working conditions while serving in the military. He reported anorexia, decreased frequency of bowel
Discussion
This case shows a highly unusual presentation of CF in a man. The diagnosis of CF depends on appropriate phenotypic features of CF and demonstration of abnormal function of the CF transmembrane conductance regulator (CFTR), the protein coded for by the CF gene.8 Our patient has very mild manifestations of CF with only the clinical feature of azoospermia, or congenital bilateral absence of the vas deferens (CBAVD), and no evidence of sinus or pancreatic dysfunction. He has mild obstructive
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Cited by (23)
Clinical Syndromes of Metabolic Alkalosis
2013, Seldin and Geibisch's The KidneyClinical Syndromes of Metabolic Alkalosis
2012, Seldin and Giebisch's The Kidney: Physiology and PathophysiologyHypochloremia and hyponatremia as the initial presentation of cystic fibrosis in three adults
2010, Annales d'EndocrinologieCitation Excerpt :Salt loss through abundant perspiration causes depletive hyponatremia, hypochloremia, and hypokalemic metabolic alkalosis in CF patients. An initial CF presentation with extracellular dehydration is usual during infancy [2] but is extremely rare in adults, with very few cases reported to date [3–7]. We describe three adult cases of CF initially presenting with extracellular dehydration associated with hyponatremia and hypochloremia.
Renal diseases in cystic fibrosis
2009, Nephrologie et TherapeutiqueClinical Syndromes of Metabolic Alkalosis
2008, Seldin and Giebisch's The KidneyUnusual phenotype of cystic fibrosis patient, compound-heterozygous for 2789+5G→A/ΔF508 mutations
2008, Respiratory Medicine CME
Originally published online as doi:10.1053/j.ajkd.2004.11.009 on January 4, 2005.