Translational Research in Cystic Fibrosis: From Bench to Beside

Frontiers in Pediatrics

article

Laura de Castro e Garcia¹  Lucas Montiel Petry¹  Pedro Augusto Van Der Sand Germani¹  Luiza Fernandes Xavier¹  Paula Barros de Barros¹  Amanda da Silva Meneses¹  Laura Menestrino Prestes¹  Luana Braga Bittencourt¹  Marina Puerari Pieta¹  Frederico Friedrich¹  Leonardo Araújo Pinto¹ 

[1] Centro Infant, Department of Pediatrics, School of Medicine, Pontifícia Universidade Católica do Rio Grande do Sul

关键词: treatment;    quality of life;    cystic fibrosis;    CFTR modulators;    translational research;   

DOI  :  10.3389/fped.2022.881470

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

Cystic fibrosis is the most common life-limiting recessive genetic disorder in Caucasian populations, characterized by the involvement of exocrine glands, causing multisystemic comorbidities. Since the first descriptions of pancreatic and pulmonary involvement in children, technological development and basic science research have allowed great advances in the diagnosis and treatment of cystic fibrosis. The great search for treatments that acted at the genetic level, despite not having found a cure for this disease, culminated in the creation of CFTR modulators, highly effective medications for certain groups of patients. However, there are still many obstacles behind the treatment of the disease to be discussed, given the wide variety of mutations and phenotypes involved and the difficulty of access that permeate these new therapies around the world.

【 授权许可】

CC BY