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Systemic amyloidosis in cystic fibrosis
American Journal of Diseases of Children (1960)
|August 1, 1977
Summary
Cystic fibrosis (CF) can rarely lead to systemic amyloidosis, causing severe respiratory issues and organ infiltration. This study highlights a unique case of CF siblings with amyloidosis, emphasizing the need for awareness of this rare complication.
Area of Science:
- Medicine
- Genetics
- Pathology
Background:
- Cystic fibrosis (CF) is a genetic disorder primarily affecting the lungs and digestive system.
- Systemic amyloidosis involves abnormal protein buildup in organs, leading to dysfunction.
Observation:
- Two siblings with cystic fibrosis presented with severe recurrent respiratory infections, pulmonary fibrosis, and bronchiectasis.
- Both siblings developed systemic amyloidosis, confirmed by postmortem examinations.
- Amyloid infiltration affected the thyroid gland in both patients, necessitating thyroidectomy in one.
Findings:
- Autopsy confirmed diffuse amyloidosis as a significant finding in both siblings.
- A review of 17 additional cystic fibrosis cases did not reveal other instances of systemic amyloidosis.
- This suggests a rare, potentially genetic, co-occurrence of cystic fibrosis and systemic amyloidosis.
Implications:
- Highlights a rare but severe complication of cystic fibrosis, systemic amyloidosis.
- Underscores the importance of considering systemic amyloidosis in CF patients with progressive organ dysfunction.
- May prompt further research into the genetic or molecular links between CF and amyloidosis.