Fibrosis cysticE84.8

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

cystic fibrosis; Cystic fibrosis; Cystic pancreatic fibrosis; Dysporia entero-broncho-pancreatica congenita; Dysporia entero-bronchopancreatica congenita familiaris; mucoviscidosis

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HistoryThis section has been translated automatically.

Andersen, 1938

DefinitionThis section has been translated automatically.

Cystic-fibrous changes in pancreas and lungs caused by congenital increased viscosity of secretions of all exocrine glands.

Occurrence/EpidemiologyThis section has been translated automatically.

Most common autosomal recessive inherited disease in people of white skin colour (1:2500).

EtiopathogenesisThis section has been translated automatically.

mutation on chromosome 7 for the "Cystic Fibrosis Transmembrane Regulator" (CFTR genes).

Clinical featuresThis section has been translated automatically.

  • Integument: Skin lesions are present inconstantly. From the 3rd-4th month of life on, there are blurred, scaly, perioral erythema. In rare cases the development of erythroderma is possible.
  • Extracutaneous manifestations: cystic pancreatic fibrosis, meconium ileus, bronchiectasis, recurrent bronchopneumonia, pulmonary abscesses, focal liver fibrosis, malnutrition, growth arrest.

DiagnosisThis section has been translated automatically.

High electrolyte concentration in sweat. Sodium > 80 mval/ml is suspicious. Absence of pancreatic enzymes in duodenal juice. Molecular genetic analysis.

TherapyThis section has been translated automatically.

Recommended are continuous antibiotic therapy for respiratory infections, enzyme substitution, reduction of the fat supply, adequate fluid and saline intake.

Progression/forecastThis section has been translated automatically.

Awkward. Mean life expectancy: 25 years; death due to heart failure in case of pulmonary circulation overload.

LiteratureThis section has been translated automatically.

  1. Andersen DH (1938) Studies on glycogen disease with a report of a case in which the glycogen was abnormal. Am J Dis Child (Chicago) 56: 344
  2. Andersen DH (1956) Familial cirrhosis of the liver with storage of abnormal glycogen. Lab Invest (Baltimore) 5: 11-20
  3. Baker SS et al (2005) Pancreatic enzyme therapy and clinical outcomes in patients with cystic fibrosis. J Pediatr 146: 189-193
  4. Orenstein DM et al (2002) Cystic fibrosis: a 2002 update. J Pediatr 140: 156-164
  5. Ratjen F, Doring G (2003) Cystic fibrosis. Lancet 361: 681-689

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer