Clinical approach to the diagnosis and treatment of cystic fibrosis and CFTR-related disorders

Abstract

Cystic fibrosis (CF) is the most frequent life-shortening autosomal recessive disorder in Caucasians. Defects or absence of the CF-transmembrane conductance regulator impair ion transport in apical membranes of exocrine glands. Leading symptoms of typical CF are exocrine pancreatic insufficiency and progressive pulmonary destruction, causing premature death. Additionally, patients can suffer from chronic rhinosinusitis, hepatic and intestinal involvement, diabetes and predominantly male infertility. Areas covered: CFTR-related disorders affect only one or several different organ systems, often to a milder degree. The definition and usage of the term has seen some variations in the last years, aiming to improve differentiation of the broad clinical spectrum associated with CFTR defects. In this review we present disease characteristics, diagnostic criteria, and treatment options of CFTR-related disorders for a multidisciplinary readership. Expert commentary: CFTR-related disorders are often diagnosed late, leading to lack of specialized attendance and adequate therapy. In clinical care, monitoring of the nutritional status, lung function, airway pathogen colonization and laboratory parameters is necessary to optimize therapy and the course of the disease.

Standard (head-down tilt) versus modified (without head-down tilt) postural drainage in infants and young children with cystic fibrosis

“…People with CF may su er from: chronic sinusitis; nasal polyps; respiratory infections; infertility (especially in males); and gastrointestinal disorders (such as gastroesophageal reflux, exocrine pancreatic insu iciency, a higher risk of developing diabetes mellitus, poor absorption of nutrients and excessive absorption of fluid) (Ernst 2010;Michl 2016). Although CF is a multisystem disorder, pulmonary disease is the most common cause of morbidity and mortality (Modaresi 2017).…”

“…Postural drainage involves the use of gravity to drain mucus from the lungs placing the patient in a position that employs gravity to move mucus centrally from the targeted lung unit whereas modified postural drainage involves positioning without the use of head-down tilt (Lannefors 2004;Michl 2016). There are 12 postural drainage positions, one for each pulmonary segment (Christian 2014).…”

Drei Jahre Mukoviszidose-Neugeborenenscreening – wie viele und welche Kinder verpassen wir? Müssen wir noch nach CF suchen?

“…Dazu zählen neben chronisch-rezidivierenden Bronchitiden und Pneumonien eine exokrine Pankreasinsuffizienz, die ca. 85 % der deutschen CF-Patienten betrifft, Analprolapse, Leberveränderungen sowie die chronische Rhinosinusitis und nasale Polyposis (auch schon im Vorschulalter); außerdem die Infertilität, weil 99 % der männlichen CF-Patienten infolge der "congenitalen bilateralen Aplaxsie des Ductus deferens" (CBAVD) unfruchtbar sind [4], sowie Elektrolytverluste -vor allem im Säuglings-und Kleinkindesalter (Pseudo-Bartter-Syndrom).…”

Impaired glucose tolerance, body mass index and respiratory function in patients with cystic fibrosis: A systematic review

“…Cystic fibrosis (CF) is the most common life‐shortening autosomal recessive disease in the Caucasian population . CF is a multisystem disease involving the respiratory, gastrointestinal, pancreatic and hepatobiliary systems.…”