ABC Medical Center > Diseases > Cystic fibrosis

What is Cystic fibrosis?

21:54 - 4 May , 2021

Disease

It is a serious genetic disease that causes severe damage to various organs, including the lungs and the digestive system, altering the cells responsible for the production of mucus, digestive juices, and sweat, transforming them into viscous and binder liquids, so instead of fulfilling their lubricating function, they plug multiple ducts, including the pulmonary and pancreatic ducts. 

Cystic fibrosis is progressive and it is not possible to eradicate it, but currently, early diagnoses and timely treatments improve the quality of life of patients, whose life expectancy is 40 to 50 years. 

It is due to a genetic mutation that affects a protein that controls the level of salt in cells, causing a change in the degree of viscosity of lung and digestive mucous secretions, also increasing the volume of salt in sweat.

Signs and symptoms Cystic fibrosis

The symptoms vary depending on how advanced the disease is and the damage it has caused, but it is usually more benevolent in patients diagnosed until adulthood because they had not previously shown symptoms. 

In the respiratory system:

  • Recurrent lung infections.
  • Chronic nasal congestion.
  • Periodic sinus episodes.
  • Chronic cough with very thick phlegm. 
  • Noises and wheezing when breathing.
  • Extreme tiredness from physical activity.

In the digestive system:

  • Oily and fetid fecal matter.
  • Lack of growth and low weight.
  • Intestinal obstructions. 
  • Permanent constipation that can trigger rectal prolapse due to excessive effort when defecating.

There are a number of possible complications caused by this condition:

In the respiratory system:

  • Nasal polyps. 
  • Pneumothorax.
  • Bronchiectasis (damage to the bronchial tubes that prevents normal breathing). 
  • Recurring infections. 
  • Respiratory insufficiency. 

In the digestive system:

  • Intestinal obstructions. 
  • Nutrient absorption dysfunction. 
  • Severe liver problems.
  • Diabetes. 

Other complications are sterility, osteoporosis, dehydration, and mental disorders.

Diagnosis and treatment Cystic fibrosis

In some countries, studies are already being carried out routinely to detect this condition in newborn babies with the aim of starting treatment as soon as possible.

For children and adults, the doctor reviews symptoms and medical history before conducting a physical examination and ordering a series of genetic and sweat tests to confirm the diagnosis.

As it is an incurable condition, the treatment focuses on controlling the symptoms, preventing, and treating complications, as well as providing a better quality of life to the patient. 

Pharmacotherapy:

  • Drug that affects the genetic mutation of cystic fibrosis. 
  • Antibiotics and anti-inflammatories.
  • Drugs to thin mucus.
  • Bronchodilators.
  • Pancreatic enzymes by mouth.
  • Laxatives.

In the ABC Medical Center Internal Medicine Department, we offer you health care services with the highest quality and safety, from the prevention, diagnosis, timely treatment, and monitoring of infectious, respiratory, endocrinological, dermatological, rheumatic, nephrological, gastrointestinal, and hematological pathologies, from both chronic-degenerative diseases and acute conditions, through a comprehensive and multidisciplinary model.

Related centers and departments

Internal Medicine
High Specialty Surgery Center
Radiology and Molecular Imaging
Clinical Laboratory

Fuentes:

  • topdoctors.es
  • kidshealth.org
  • mayoclinic.org
  • medlinesplus.gov
  • cun.es
  • clevelandclinic.org
  • medigraphic.com
  • Martínez SJA, López RI, Santos GEN, et al. Frecuencia de las mutaciones G85E y V754M en pacientes con diagnóstico clínico de fibrosis quística. Rev Cub Gen . 2018;12(3):.
  • Charpentier MRJ. Paciente pediátrico con fibrosis quística. Revista Médica Sinergia. 2020;5(11):1-11.
  • Bustamante AE, Mascareñas-Martínez L, Fernández LT, et al. Infección temprana por Pseudomonas aeruginosa en niños mexicanos con fibrosis quística. Acta Pediatr Mex. 2020;41(4):159-164.
  • Labrada DA. Fibrosis quística del adulto y cirugía laparoscópica. Revista Cubana de Anestesiología y Reanimación. 2019;18(1):1-9.

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