Abstract
In cystic fibrosis involvement of pancreas usually presents as exocrine pancreatic insufficiency. Some patients, however, have exocrine pancreatic sufficiency.
The paper analyses the clinical manifestations in patients presenting with cystic fibrosis with exocrine pancreatic sufficiency (5 men and 6 women, mean age 28.7. years) and compares them with the clinical manifestation in F508del homotygotes (10 men and 12 women, mean age 24,9 years) with exocrine pancreatic insufficiency. In patients with exocrine pancreatic sufficiency the diagnosis of cystic fibrosis was established in later age (mean age 16.4 years vs. 1.9 years, p = 0.003).
These patients had lower concentration of sweat chlorides (72 vs. 94 mmol/l, p = 0.004), higher fecal elastase 1 (580 vs. 15 μg/g, p < 0.0001), better nutntional status (body mass Index 22.9. vs. 20.9 kg/m2 p = 0.011) and less frequent colonization of the respiratory tract with typical Gram-negative bacteria (5 out of 11 vs. 19 out of 22, p = 0.033). The tendency of patients with exocrine pancreatic sufficiency to better parameters of pulmonary function, to better clinical and radiological score and to better exercise tolerance did not reach statistical significance, just as a tendency towards more frequent incidence of recurrent or chronic pancreatitis and less frequent incidence of diabetes and hepatopathy.
We found no difference in the incidence of nasal polyposis, allergic bronchopulmonary aspergillosis, pneumothorax, haemoptysis and metabolic bone disease. We did not have sufficient data to assess the incidence of obstructive azoospermia.
In the absence of steatorrhoea and malnutrition and because of variable involvement of the respiratory tract, the diagnosis of cystic fibrosis in the presence of exocrine pancreatic sufficiency is difficult. However, in the view of possible consequences for the patient (gradual progression of the disease) and consequences for his blood relatives (including prenatal diagnosis) we have to think of this disease in the e differential diagnosis of conditions with recurrent and chronic sinobronchial symptoms.