オオトモ　タカノブ   Takanobu Otomo   大友　孝信    所属   川崎医科大学  医学部 基礎医学　分子遺伝医学    職種   教授
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome.
掲載誌名	正式名：International journal of molecular sciences 略　 称：Int J Mol Sci ISSNコード：14220067/14220067
掲載区分	国外
巻・号・頁	23(10),pp.5851
著者・共著者	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
発行年月	2022/05
概要	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