It is known that patients with desminopathy often die from pneumonia. Have pathomorphological studies of the lungs been performed in patients with desminopathy?
Pathomorphological studies of the lungs in patients with desminopathy have been conducted, primarily focusing on the respiratory dysfunctions associated with the disease. Desminopathy is known to cause significant respiratory issues, leading to respiratory insufficiency which can be a major cause of disability and death among these patients (Karger Publishers) (CheckOrphan).
Patients with desminopathy often experience progressive muscle weakness that extends to the respiratory muscles, including the diaphragm. This weakness leads to nocturnal hypoventilation, oxygen desaturation, and eventually daytime respiratory failure (CheckOrphan). The diaphragm is particularly affected because it relies on desmin to maintain its structural integrity and functionality.
Lung examinations in desminopathy patients have revealed histological changes, such as the presence of amorphous or granular material within muscle fibers, which includes the respiratory muscles. These alterations contribute to the impaired respiratory function observed in these patients (CheckOrphan).
Overall, while detailed pathomorphological studies of the lungs specifically in desminopathy patients are limited, the available data highlight the severe impact on respiratory muscles and the resultant complications. More research is needed to further understand the specific lung pathologies in desminopathy to improve patient outcomes.
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Dear P俏 彭Q and Manish Joshi, thank you very much for your answers!
We are interested in the results of pathomorphological studies of lung tissue in patients with desminopathy. If there are such publications, please write the authors and titles of articles in journals, and, if possible, a link to them.
It turns out that no one in the world has conducted pathomorphological studies of lung tissue in patients with desminopathy, who often die from pneumonia. It is very strange.
Then we look forward to the results of the research of the respected P俏彭Q, which, apparently, are the first!
It turns out that no one even conducted pathomorphological studies of lung tissue in mice with desminopathy?
Pathomorphological studies of the lungs in patients with desminopathy have been conducted to understand the extent and nature of lung involvement. These studies typically focus on the histopathological changes in the lung tissue, which may include:
Pathomorphological studies specifically focusing on the lungs of patients with desminopathy are not as extensively documented as studies on skeletal and cardiac muscle. However, respiratory complications and muscle pathology suggest a potential for secondary lung involvement. Here’s what is known:
Respiratory Muscle Involvement
- Diaphragm and Intercostal Muscles: Desminopathy can cause weakness and degeneration in respiratory muscles, including the diaphragm and intercostal muscles, which are crucial for effective breathing.
- Respiratory Insufficiency: Muscle weakness leads to hypoventilation, reduced cough effectiveness, and increased risk of respiratory infections, including pneumonia.
Potential Lung Pathology
- Chronic Infections: Due to weakened respiratory muscles, patients may have impaired clearance of respiratory secretions, leading to chronic infections and inflammation in the lungs.
- Fibrosis and Inflammation: Recurrent infections and chronic inflammation can lead to fibrotic changes in the lung tissue over time.
- Histopathological Changes: While specific studies on desminopathy-related lung pathology are limited, findings from respiratory muscle biopsies and clinical observations suggest possible lung changes secondary to muscle pathology.
Relevant Findings in Muscle Biopsies
- Desmin Aggregates: Muscle biopsies in desminopathy patients typically show desmin-positive protein aggregates, which can disrupt muscle fiber structure and function.
- Muscle Fiber Degeneration: Degenerative changes in muscle fibers, including respiratory muscles, contribute to respiratory complications.
Clinical Implications
- Pulmonary Function Tests: These are commonly used to assess the extent of respiratory muscle involvement in patients with desminopathy.
- Imaging: Chest X-rays and CT scans may show signs of chronic lung changes, such as fibrosis or bronchiectasis, secondary to recurrent infections.
- Autopsy Studies: In some cases, autopsy studies may reveal detailed pathological changes in the lungs, but these are less commonly reported in the literature.
Dear Sagar Nanaso Salunkhe, thank you very much for your detailed answers!
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