Pulmonary storage

Česká verzia

Authors: Martina Šterclová
Authors place of work: Pneumologická klinika 1. LF UK a Fakultní Thomayerovy nemocnice, Praha ; Pneumologická klinika 2. LF UK a FN Motol, Praha
Published in the journal: Vnitř Lék 2022; 68(8): 525-531
Category: Review Articles
doi: https://doi.org/10.36290/vnl.2022.111

Summary

Interstitial lung diseases (ILDs) are not just a matter of scarring or inflammation in the lung tissue. The lungs can also serve as a repository for products that can be produced in excessive amounts in the human body as a result of disease.

Geneticaly based dysfunctions of lysosomal enzymes, which leads to an unefficient degradation and transport of various macromolecules from lysosomes, are considered to be storage diseases sensu stricto. ILDs were described in patients with Gaucher disease, Niemann-Pick disease and Fabry disease. In a broader context, however, the accumulation of various substances in the lung tissue is also encountered in cases of pediatric pulmonary interstitial glycogenosis (PIG), alveolar lipoproteinosis or pulmonary amyloidosis.

The cause of PIG is not clear. The disease was first described in 2002 and a lung tissue sample is required to establish this diagnosis. Even though PIG usually goes well in childhood and the patients‘ difficulties spontaneously subside over time, the long-term prognosis of the patients is unknown.

Alveolar lipoproteinoses can be acquired (e.g. after massive exposure to silica dust), autoimmune, but also genetically determined. Unlike lysosomal storage diseases, in the case of pulmonary alveolar lipoproteinosis, accumulation of abnormal macromolecules occurs only in the lungs of affected individuals. Similarly, amyloidosis is not a single disease, but a group of diseases with different etiopathogenesis, as a result of which amyloid – a group of different proteins with a distinctvive conformation, which can be deposited in various organs, including the lungs – is formed. The diagnosis of pulmonary alveolar lipoproteinosis is based on the typical appearance and biochemical composition of the fluid obtained by bronchoalveolar lavage, the diagnosis of amyloidosis is histological.

Keywords:

Amyloidosis – lysosomal storage diseases – pulmonary alveolar proteinosis – pulmonary interstitial glycogenosis

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