cystic fibrosis

cystic fibrosis
= fibrocystic disease of the pancreas; = mucoviscidosis
a hereditary disease affecting cells of the exocrine glands (including mucus-secreting glands, sweat glands, and others). The faulty gene responsible for the most common form of the disease has been identified as lying on chromosome no. 7 and is recessive, i.e. both parents of the patient can be carriers without being affected by the disease. Affected individuals have abnormalities in a protein, cystic fibrosis transmembrane conductance regulator (CFTR), that enables the transport of chloride ions across cell membranes: this results in the production of thick mucus, which obstructs the intestinal glands (causing meconium ileus in newborn babies), pancreas (causing deficiency of pancreatic enzymes resulting in malabsorption and failure to thrive), and bronchi (causing bronchiectasis). Respiratory infections, which may be severe, are a common complication. Common agents include Haemophilus, Pseudomonas, Staphylococcus, and Burkholderia cepacia. The sweat contains excessive amounts of sodium and chloride, which is an aid to diagnosis.
Treatment consists of minimizing the effects of the disease by administration of pancreatic enzymes and physiotherapy for the lungs and by preventing and combating secondary infection. Sputum viscosity can be reduced by nebulized recombinant human DNAse. Genetic counselling is essential, as each subsequent child of carrier parents has a one in four chance of being affected (see also mouthwash test, preimplantation genetic diagnosis). Some patients are benefiting from revolutionary new treatments, including transplantation of heart and lungs and treatment aimed at altering the genetic content of the faulty cells (see gene therapy).

The new mediacal dictionary. 2014.

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Look at other dictionaries:

  • Cystic fibrosis — Classification and external resources A breathing treatment for cystic fibrosis, using a mask nebuliser and a ThAIRapy Vest ICD 10 E …   Wikipedia

  • cystic fibrosis — n. a congenital disease, usually of children, characterized by fibrosis and malfunctioning of the pancreas, and by frequent respiratory infections …   English World dictionary

  • cystic fibrosis — cystic fibrosis. См. муковисцидоз. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • cystic fibrosis — ► NOUN ▪ a hereditary disorder which affects the exocrine glands, resulting in the production of abnormally thick mucus and leading to the blockage of the pancreatic ducts, intestines, and bronchi …   English terms dictionary

  • cystic fibrosis — Pathol. a hereditary chronic disease of the exocrine glands, characterized by the production of viscid mucus that obstructs the pancreatic ducts and bronchi, leading to infection and fibrosis. [1950 55] * * * ▪ pathology also called… …   Universalium

  • Cystic fibrosis — One of the most common grave genetic (inherited) diseases, CF affects the exocrine glands and is characterized by the production of abnormal secretions, leading to mucous build up. This accumulation of mucus can impair the pancreas and,… …   Medical dictionary

  • cystic fibrosis (CF) — or mucoviscidosis Inherited metabolic disorder characterized by production of thick, sticky mucus. It is recessive (see recessiveness) and the most common inherited disorder (about 1 per 2,000 live births) in those of European ancestry.… …   Universalium

  • cystic fibrosis — [[t]sɪ̱stɪk faɪbro͟ʊsɪs[/t]] N UNCOUNT Cystic fibrosis is a serious disease of the glands which usually affects children and can make breathing difficult …   English dictionary

  • Cystic fibrosis transmembrane conductance regulator — (ATP binding cassette sub family C, member 7) NBD1 of human CFTR complexed with ATP. PDB rendering based on 1xmi …   Wikipedia

  • Cystic Fibrosis Canada — Type Health Charity Registration No. 10684 5100 RR0001 Founded 15 July 1960 ( …   Wikipedia

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