Cystic fibrosis

Presentation

The Cystic Fibrosis Unit (CF) of the Parc Taulí Health Corporation is one of the three Reference Units for Cystic Fibrosis in Catalonia. It is a consolidated unit and has accredited experience in the management, treatment and research in Cystic Fibrosis since 1982. With the aim of contributing to the fight against Cystic Fibrosis, it works to improve diagnosis, treatment and research, also disseminating the results of its research and training of specialized professionals to improve the quality of life of patients with Fibrosis. Cystic.

The Unit received recognition for its contribution to Rare Diseases on February 28, 2017 by the Management Committee for World Rare Diseases Day in Catalonia.
 

 

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About us

Case manager

  • Susana Loureda (Pediatrics)
  • Adela Garcia (adults)

Pediatrics

  • Oscar Asensio (Pneumology)
  • Miguel García (Pulmonology)
  • Roser Ayats (Pneumology)
  • Inès Loverdos (Gastroenterology)
  • Elisenda Busquets (Gastroenterology)
  • Raquel Corripio (Endocrinology)
  • Jacobo Pérez (Endocrinology)
  • Jorge Roberto Palacios (Cardiology)
  • Loli Gonzalez (Social Work)
  • Núria López (Respiratory Physiotherapy)
  • Andrea Valiente (Respiratory Physiotherapy)
  • Eva Robert (Respiratory Physiotherapy)
  • Elena Fernandez (Respiratory Physiotherapy)
  • Susana Loureda (Nursing)

Adult age

  • Conchita Montón (Pulmonology)
  • Xavier Pomares (Pneumology)
  • Valentí Puig (Gatsroenterology)
  • Adela García (Nursing)
  • Gina Mateu (Respiratory Physiotherapy)
  • Júlia Estela (Respiratory Physiotherapy)
  • Mariona Noray (Respiratory Physiotherapy)

Pediatrics and Adult Age

  • Carmen Manso (Clinical Genetics)
  • Núria Capdevila (Genetic Advice)
  • Yolanda Couto (Nutrition)
  • Yolanda Escamilla (Otolaryngology)
  • Paola Lajpadian (Psychology)
  • Antonio Casabella (Microbiology)

Laboratory specialists

  • Miriam Guitart
  • Snows Baena
  • Ana ruiz
     

Coordinator of the Unit

Oscar Asensio de la Cruz
 

Information for patients

Disease information

Cystic Fibrosis (CF) presents in the form of an autosomal recessive inheritance and with a multisystemic clinic (chronic sinus-pulmonary disease, pancreatic insufficiency, male infertility and high levels of chlorine in sweat). The CFTR gene is located on the long arm of chromosome 7, is 250 kilobases in size, comprises 27 exons, and encodes a 1480 amino acid protein called CFTR (Cystic Fibrosis Transmembrane Regulator). This protein acts as a chlorine channel.

More than 2000 mutations in the CFTR gene divided into 7 classes are currently known. To be considered sick, individuals must be carriers of two mutations, one in each breath. The carriers of a mutation are in principle healthy individuals, who can transmit the disease but not suffer from it. The frequency of healthy carriers is very high in the general population so that 1 in 35 people carries a mutation by CF. The CF patient population is divided into two groups: the group carrying two equal mutations (homozygous) and the carrier carrying two different mutations (heterozygous patients).

 CF pathophysiologically is characterized by abnormal transport of the airway epithelium conditioning an alteration in the ionic permeability of the sodium and chlorine cell membrane secondary to the defect in the gene encoding CFTR synthesis. The coded protein (CFTR) is located in the apical membrane of airway, intestinal, reproductive, hepatic, renal, and sweat gland epithelial cells. The severity of the disease depends on CFTR mutations, modifying genes, and environmental triggers. The severity of the disease varies, ranging from cases of children with premature death to cases of chronic survival disease to adulthood. The survival of CF patients has improved over the years. Thus the average survival in 1959 was 4-5 years and in 2019 it is estimated at around 50 years. In industrialized countries, following the results observed in the last decade, patient survival is expected to continue to increase. Treatment currently pivots on three fundamental pillars, antibiotics, nutrition (diet and pancreatic enzymes), and respiratory physiotherapy. But in recent years a number of drugs have been developed aimed at enhancing and / or modifying the abnormal CFTR protein that will change the prognosis, survival and quality of life of Cystic Fibrosis patients, and possibly avoiding the complications and lung and liver transplantation of some patients with Cystic Fibrosis.
 

Patient and family associations

 

Information for professionals


Shared resources

Collection of documents, guides, templates, diagrams and protocols of interest for other devices in the healthcare system.

Functional circuits

Clinical practice guidelines

Templates and model documents


Consulting between professionals

 

Research and dissemination of knowledge

Below is the link to the Areas and Research Groups of the Rare Diseases Unit: enllaç

We provide you with links to major databases so you can find out what clinical trials are currently being conducted and where they are being conducted.

How to contact

 

For any type of information or management contact the Liaison Office.