Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome

Autor:	Viktoriia Sofronova, Rina Iwata, Takuya Moriya, Kiunniai Loskutova, Elizaveta Gurinova, Mairanush Chernova, Anastasia Timofeeva, Anna Shvedova, Filipp Vasilev, Saina Novgorodova, Seigo Terawaki, Takahito Moriwaki, Aitalina Sukhomyasova, Nadezhda Maksimova, Takanobu Otomo
Rok vydání:	2022
Předmět:	Eye Diseases Organic Chemistry General Medicine Mucopolysaccharidoses mucopolysaccharidosis lysosomal storage disease mucopolysaccharidosis-plus syndrome VPS33A proteinuria renal failure foamy podocyte anemia thrombocytopenia Hematologic Diseases Catalysis Computer Science Applications Inorganic Chemistry Mutation Humans Physical and Theoretical Chemistry Molecular Biology Spectroscopy Glycosaminoglycans
Zdroj:	International Journal of Molecular Sciences; Volume 23; Issue 10; Pages: 5851
ISSN:	1422-0067
Popis:	Mucopolysaccharidoses (MPS) are rare lysosomal storage disorders (LSD) characterized by the excessive accumulation of glycosaminoglycans (GAG). Conventional MPS, caused by inborn deficiencies of lysosomal enzymes involved in GAG degradation, display various multisystemic symptoms—including progressive neurological complications, ophthalmological disorders, hearing loss, gastrointestinal and hepatobiliary issues, cardiorespiratory problems, bone and joint abnormalities, dwarfism, and coarse facial features. Mucopolysaccharidosis-Plus Syndrome (MPSPS), an autosomal recessive disease caused by a mutation in the endo-lysosomal tethering protein VPS33A, shows additional renal and hematopoietic abnormalities (“Plus symptoms”) uncommon in conventional MPS. Here, we analyze data from biochemical, histological, and physical examinations—particularly of blood counts and kidney function—to further characterize the clinical phenotype of MPSPS. A series of blood tests indicate hematopoietic symptoms including progressive anemia and thrombocytopenia, which correlate with histological observations of hypoplastic bone marrow. High urinary excretion of protein (caused by impairments in renal filtration), hypoalbuminemia, and elevated levels of creatinine, cholesterol, and uric acid indicate renal dysfunction. Histological analyses of MPSPS kidneys similarly suggest the extensive destruction of glomerular structures by foamy podocytes. Height and weight did not significantly deviate from the average, but in some cases, growth began to decline at around six months or one year of age.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::236f97acd6f0bc4bdda412881531e7a5 https://doi.org/10.3390/ijms23105851 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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