Atypical Cystic Fibrosis and CFTR-Related Diseases

Abstract

Cystic fibrosis (CF), which is among the most common life-shortening recessive illnesses, is caused by mutations of the CF transmembrane conductance regulator (CFTR) and typically involves chronic infection and progressive obstruction of the respiratory tract as well as pancreatic exocrine insufficiency. Disease severity, to some extent, correlates with organ sensitivity to CFTR dysfunction and to the amount of functional protein, which is influenced by the type of mutation. Atypical CF represents approximately 2% of affected individuals, and includes cases presenting in adolescence or adulthood with pancreatic exocrine sufficiency, normal or borderline sweat chloride concentrations, or with a single predominant clinical feature. This review briefly describes diagnostic methods and phenotypic characteristics of classic and atypical CF, as well as CFTR-related diseases, conditions in which mutated CFTR may contribute to the pathogenesis but do not strictly fit established diagnostic criteria.

Frequency of the hyperactive W493R ENaC variant in carriers of a CFTR mutation

“…They did not show any symptoms of chronic respiratory or intestinal disease that could be interpreted as the manifestation of mild CF, atypical CF [11] or CFTR-related disorder [12]. Table 1 CFTR mutations in the study population of parents with at least one CF child.…”

Cystic Fibrosis Late Diagnosis: A Case Report

“…Certain pulmonary signs, however, such as recurrent pneumonia, progressive obstruction possibly identified as asthma or chronic obstructive pulmonary disease, chronic sinusitis, or nasal polyposis can lead to suspicious CF [19,20]. Among GIT symptoms in atypical CF, it can be included chronic constipation or diarrhea and chronic or recurrent pancreatitis [21].…”

Erwachsene mit Mukoviszidose

“…Die Diagnose wird dann nicht selten erst im späteren Erwachsenenalter gestellt, zum Beispiel als Differenzialdiagnose einer chronisch obstruktiven Bronchitis, Bronchiektasen unbekannter Ursache oder bei bestehender männlicher Infertilität [2]. Tatsächlich ist die männliche Infertilität infolge einer Obliteration der Vasa deferentia typisch für CF.…”

“…Tab 2. Übersicht über die klinischen Komplikationen und Probleme bei erwachsenen Patienten/Patientinnen mit zystischer Fibrose (CF).…”