Takanobu Otomo
   Department   Kawasaki Medical School  Kawasaki Medical School, Department of Molecular and Genetic Medicine,
   Position   Professor
Article types 原著
Language English
Peer review Peer reviewed
Title Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome.
Journal Formal name:International journal of molecular sciences
Abbreviation:Int J Mol Sci
ISSN code:14220067/14220067
Domestic / ForeginForegin
Volume, Issue, Page 23(10),pp.5851
Author and coauthor Sofronova Viktoriia, Iwata Rina, Moriya Takuya, Loskutova Kiunniai, Gurinova Elizaveta, Chernova Mairanush, Timofeeva Anastasia, Shvedova Anna, Vasilev Filipp, Novgorodova Saina, Terawaki Seigo, Moriwaki Takahito, Sukhomyasova Aitalina, Maksimova Nadezhda, Otomo Takanobu
Publication date 2022/05
Summary 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.
DOI 10.3390/ijms23105851
PMID 35628659