lipid proteinosis

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Related to proteinosis: lipoid proteinosis

lipid proteinosis

[′lip·əd ‚prō·dē·ə′nō·səs]
(medicine)
A hereditary disorder characterized by extracellular deposits of phospholipid-protein conjugate involving various areas of the body, including the skin and air passages.
References in periodicals archive ?
From the archives of the AFIP: pulmonary alveolar proteinosis.
A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis.
The various aetiologies evolved from our study were ABPA (5 cases), BOOP (2 cases), Pulmonary alveolar proteinosis (1 case), Strongyloides (1 case), Amiodarone pneumonitis (1 case), Wegener's granulomatosis (1 case), Acute myeloid leukaemia (1 case) and so on.
Lipoid proteinosis is a rare genetic disease, and a diagnosis can be made on the basis of typical clinical symptoms and verified by histopathology (1, 2).
Pulmonary alveolar proteinosis (PAP) is a progressive lung disease characterized by accumulation of surfactant-like lipoproteinaceous material within the alveoli and distal bronchioles due to impaired clearance by alveolar macrophages.
low] infiltrating macrophages, occurs in a variety of inflammatory diseases, including rheumatoid arthritis, atherosclerosis, asthma, atopic eczema, pancreatitis, and alveolar proteinosis.
8] With regard to lipoid proteinosis, a study conducted in the Namaqualand region of SA proposed that a brother and his sister who were born early in the 18th century are the common ancestors of present-day lipoid proteinosis patients.
Lipoid proteinosis is a rare autosomal recessive disorder with variable phenotype caused by defect in extracellular matrix protein-1 and is characterized by deposition of periodic acid- Schiff-positive diastase resistant material in skin mucous membrane and internal organs.
Peroxisome proliferator-activated receptor-gamma is deficient in alveolar macrophages from patients with alveolar proteinosis.
Other conditions associated with nocardial infection include diabetes mellitus, alcoholism, chronic obstructive pulmonary disease, tuberculosis, chronic granulomatous disease, alveolar proteinosis, and tumor necrosis factor-alpha inhibitor therapy [2-5,17,19].
Five patients with SFTP-C mutation had CIP, one patient had pulmonary alveolar proteinosis (PAP) and one patient hadfibrotic NSIP The histopathological diagnoses of the patients with ABCA3 mutation were as follows: PAP in four patients and DIP in two patients (12).