Table 1.

Clinical expression of three siblings with the N1303K/R248G cystic fibrosis transmembrane conductance regulator genotype

	Patient 1	Patient 2	Patient 3
Current age	39-year-old man	32-year-old woman	29-year-old woman
Age of diagnosis	32 years	25 years	22 years
Chloride sweat test (mEq/L)	47	40	42
FEV1 %	82.2	86	84
FVC %	80.1	82	82.4
Respiratory disease	No significant history	No significant history	1 episode of bronchitis
			1 episode of pneumonia
Bacterial colonization	Staphylococcus aureus	Staphylococcus aureus	No significant history
Pancreatic and gastrointestinal manifestations	• Recurrent epigastric pain associated with pancreatitis	• 3 episodes of pancreatitis	• 4 episodes of pancreatitis
	• Chronic heartburn	• Recurrent epigastric pain
Reproductive complications	• CUAVD	• 2 spontaneous abortions	No significant history
	• Testicular hydrocele	• Periods of infertility

CUAVD congenital unilateral absence of the vas deferens, FEV1 forced expiratory volume in 1 second, FVC forced vital capacity