The changing face of the exocrine pancreas in cystic fibrosis: pancreatic sufficiency, pancreatitis and genotype

Abstract

(Table is included in full-text article.)Cystic fibrosis (CF) is the most frequent cause of exocrine pancreatic insufficiency in childhood. The cystic fibrosis transmembrane conductance regulator (CFTR) gene encodes CFTR protein that functions as cyclic AMP-dependent chloride channel allowing the passage of anions and secondarily water into the lumen of pancreatic ducts. Luminal chlorides are exchanged for bicarbonates. The lack of CFTR channel or its disrupted function (being the consequence of CFTR gene mutations) results in reduced volume of more acidic secretion. It has been suggested that such a situation leads to the precipitation of highly concentrated protein-containing secretion with obstruction and organ damage. The intensity of this process determines the progression of the disease. Steatorrhea is the significant symptom of classical form of CF. Residual pancreatic secretion in a subset of patients, however, allows for normal lipid digestion and absorption. Previous cross-sectional clinical studies estimated that about 85-90% of CF patients in preschool, school and older age are pancreatic insufficient. More frequent detection of mild and nonclassic forms of CF leads to higher frequency of pancreatic sufficiency (PS). The potential decline of exocrine pancreatic function, however, should be always considered. All PS patients with at least one severe or unknown CFTR mutation should be longitudinally assessed for the progression of pancreatic dysfunction. Recurrent acute and chronic pancreatitis is not a rare clinical condition in PS patients with PS: it might be the presenting symptom, even preceding CF diagnosis by several years. Potential appearance of this complication in individuals with pancreatic insufficiency demands elucidation.

Clinical presentation of cystic fibrosis at the time of diagnosis: a multicenter study in a region without newborn screening

“…In CF patients, the pancreas develops a progressive atrophy causing steatorrhea and nutritive deficiencies. CF is the most frequent cause of exocrine pancreatic insufficiency in childhood (20). Patients with this manifestation were diagnosed significantly sooner, pursuant to be more obvious to be reported by the parents.…”

Prevalencia de deficiencia de vitamina K y factores asociados en pacientes con fibrosis quística sin aporte suplementario

“…Se evaluaron el estado nutricional (valores estandarizados de talla y peso corporales, concentración de albúmina 23 ), la expresión clínica de la enfermedad (función pulmonar, espirometría, función pancreática exocrina, elastasa-1 fecal, [24][25][26] colonización por Pseudomonas aeruginosa y marcadores bioquímicos de daño hepático [ALT, AST, GGT, 27 TP 28 ]) al momento de la recolección de muestras de sangre en todos los pacientes. También se recabó información sobre diabetes y cirrosis hepática concurrentes.…”

Prevalence of vitamin K deficiency and associated factors in non-supplemented cystic fibrosis patients

“…Nutritional status (standardized body height and weight, albumin concentration 23 ), clinical expression of disease (lung function, spirometry, exocrine pancreatic function, fecal elastase-1, [24][25][26] Pseudomonas aeruginosa colonization, and biochemical markers of liver damage -ALT, AST, GGT 27 , PT 28 ) were assessed at the time of blood sample collection in all CF patients. Additionally, information about coexisting diabetes and liver cirrhosis was collected.…”