Cystic fibrosis – an example of personalized and precision medicine

Abstract

Cystic fibrosis (CF) is a severe, monogenic, autosomal recessive disease caused by mutations in the CFTR (cystic fibrosis transmembrane regulator) gene, where disturbed chloride and bicarbonate transportation in epithelial cells results in a multiorgan disease with primarily pulmonary infections and pancreatic insufficiency. In 1968, the Copenhagen CF Center was established, and centralized care of CF patients with monthly control was introduced. Close monitoring and treatment of Pseudomonas lung infection as well as segregation of patients with different infection status improved the clinical outcome as well as survival. Prophylactic basic treatment as well as infection treatments follow specific algorithms. A variety of comorbidities have all along the pulmonary infection control necessitated personalized care, adjusted to the patients′ phenotype. With the introduction of CFTR modulators, the treatment has shifted from prophylactic, symptomatic type toward a new era of precision medicine targeting the basic defect according to the patients′ CFTR genotype. Future directions will focus on further improvement of the CFTR modulators and gene therapy, as well as modifier genes and CF phenotype.

Omics-based tracking ofPseudomonas aeruginosapersistence in “eradicated” cystic fibrosis patients

“…The Copenhagen CF Center follows a positive culture-based model of treatment supported by the ~monthly patient clinic visits. CF patients treated at the Copenhagen CF Center undergo early eradication therapy (EET) of three weeks (before 2008: three months) of predominantly peoral ciprofloxacin and nebulized colistin for treatment of first PA isolation (a few patients are treated with ciprofloxacin and tobramycin based on patient-specific sensitivities) 1,22 . If PA is subsequently cultured within the following six months, an i.v.…”

Hearing the Voice of a Shadow Child: Healthy Siblings Experience of Cystic Fibrosis and Other Life-Threatening Conditions

“…This has been said to be one of the most successful medical interventions in the Western world (1)(2)(3)(4)(5). The progress has been made on focusing on the underlying CFTCR gene and modifying its impact, and current developments of this approach aim to seek to develop a personalized treatment that crucially will prevent the chronic breathlessness and the development of respiratory infections (6)(7)(8).…”

Paciente pediátrico con fibrosis quística

“…La mayoría de los pacientes con FQ tienen insuficiencia pancreática exocrina, lo que compromete la absorción de nutrientes como vitaminas liposibles y la degradación de grasas y proteínas lo que lleva a desnutrición (3). También la enfermedad hepática se presenta en aproximadamente el 30% de los casos con predominio masculino, mientras que la osteoporosis y la artritis por FQ son comorbilidades adicionales (10). Se desconoce si la enfermedad renal crónica se relaciona exclusivamente con la edad, la diabetes, la infección crónica, el trasplante y el uso de aminoglucósidos o la insuficiencia renal, también están bajo la influencia de la expresión tubular de CFTR (10).…”