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[Cystic fibrosis in adulthood]
1Centre mucoviscidose, service de médecine interne, pavillon Giraud 1 K, 69495 Pierre-Bénite, France. isabelle.durieu@chu-lyon.fr
Insights
Cystic fibrosis (CF), a genetic disorder, increasingly affects adults due to longer lifespans. Diagnosis in adults involves recognizing specific symptoms like bronchiectasis and pancreatic issues, confirmed by sweat tests or genetic analysis.
Area of Science:
- Genetics and Molecular Biology
- Pulmonology
- Endocrinology
Context:
- Cystic fibrosis (CF) is an autosomal recessive genetic disorder.
- Increased life expectancy has led to a growing adult CF population.
- Adult CF patients often present with distinct complications.
Purpose:
- To describe the clinical presentation and diagnostic criteria for cystic fibrosis in adult patients.
- To highlight the shift in CF demographics towards adulthood.
- To inform healthcare providers about adult-onset CF manifestations.
Summary:
- Adult CF patients commonly exhibit diffuse bronchiectasis, chronic Pseudomonas aeruginosa colonization, and pancreatic insufficiency.
- Comorbidities include diabetes mellitus in one-third of adult cases.
- Diagnostic clues in adults include male infertility, chronic sinusitis, pancreatitis, and allergic bronchopulmonary aspergillosis.
- Confirmation relies on sweat chloride concentration or CFTR gene mutation analysis.
Impact:
- Improved recognition of adult CF can lead to earlier diagnosis and intervention.
- Understanding adult-specific complications aids in tailored patient management.
- This demographic shift necessitates adapted clinical guidelines and research focus.
Abstract:
Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations of the CFTR gene. The number of adult CF patients increased dramatically, since life expectancy is now around thirty years. CF is usually a pediatric disease. In adult patients the disease associate a diffuse bronchectasia with chronic colonisation of sputum with Pseudomonas aeruginosa, and pancreatic insufficiency. Mortality is usually related to respiratory insufficiency. One third of adult patients develop diabetes mellitus. A diagnosis of CF can be made in adult patients particularly when it exists male infertility with congenital absence of vas deferens, chronic sinusitis or diffuse bronchectasia or chronic pancreatitis, acute and recurrent pancreatitis, allergic bronchopulmonary aspergillosis. The diagnosis is established with positive sweat chloride concentration, or double CFTR mutations and/or other suggestive organ involvement.