Case reports
An unusual presentation of cystic fibrosis in an adult

https://doi.org/10.1053/j.ajkd.2004.11.009Get rights and content

The diagnosis of cystic fibrosis (CF) generally is made within the first few years of life, although some cases will not be diagnosed until adulthood. For most patients the diagnosis is suggested by typical CF-related symptoms such as chronic respiratory infection or maldigestion. The authors describe an adult patient with newly diagnosed CF whose presenting abnormalities consisted of hypokalemia and metabolic alkalosis. These are known complications of CF but are not common presenting features that lead to the diagnosis of CF. The authors discuss their patient’s presentation and review his metabolic manifestations of CF.

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

References (21)

There are more references available in the full text version of this article.

Cited by (23)

  • Clinical Syndromes of Metabolic Alkalosis

    2013, Seldin and Geibisch's The Kidney
  • Clinical Syndromes of Metabolic Alkalosis

    2012, Seldin and Giebisch's The Kidney: Physiology and Pathophysiology
  • Hypochloremia and hyponatremia as the initial presentation of cystic fibrosis in three adults

    2010, Annales d'Endocrinologie
    Citation 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 Therapeutique
  • Clinical Syndromes of Metabolic Alkalosis

    2008, Seldin and Giebisch's The Kidney
View all citing articles on Scopus

Originally published online as doi:10.1053/j.ajkd.2004.11.009 on January 4, 2005.

View full text