An unusual presentation of cystic fibrosis in an adult.
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.
Davé
Shoban
S
Department of Medicine, Medical University of South Carolina, Ralph H. Johnson VA Medical Center, Charleston, SC 29425, USA. dave@musc.edu
Honney
Shanon
S
Raymond
John
J
Flume
Patrick A
PA
D000136:Acid-Base Equilibrium; D000328:Adult; D000471:Alkalosis / Q000209:etiology; D003550:Cystic Fibrosis / Q000097:blood / Q000150:complications / Q000175:diagnosis*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004252:DNA Mutational Analysis; D005334:Fever / Q000209:etiology; D005440:Fluid Therapy; D006358:Hot Temperature / Q000009:adverse effects; D006801:Humans; D006929:Hyperaldosteronism / Q000209:etiology; D007008:Hypokalemia / Q000209:etiology; D008297:Male; D018908:Muscle Weakness / Q000209:etiology; D016254:Mutagenesis, Insertional; D009765:Obesity / Q000150:complications; D009784:Occupational Diseases / Q000209:etiology; D009845:Oligospermia / Q000209:etiology; D017384:Sequence Deletion; D013542:Sweat / Q000737:chemistry
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator