{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T18:20:48Z","timestamp":1790706048411,"version":"4.1.0"},"reference-count":22,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2022,5,23]],"date-time":"2022-05-23T00:00:00Z","timestamp":1653264000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Japanese Government (Monbukagakusho: MEXT)","award":["FSRG-2020-0014 \u201cGenomics of Arctic: epidemiology, hereditary and pathology\u201d"],"award-info":[{"award-number":["FSRG-2020-0014 \u201cGenomics of Arctic: epidemiology, hereditary and pathology\u201d"]}]},{"name":"Japanese Government (Monbukagakusho: MEXT)","award":["JP17K05088"],"award-info":[{"award-number":["JP17K05088"]}]},{"name":"Japanese Government (Monbukagakusho: MEXT)","award":["JP22H03046"],"award-info":[{"award-number":["JP22H03046"]}]},{"name":"Ministry Education and Science of Russian Federation","award":["FSRG-2020-0014 \u201cGenomics of Arctic: epidemiology, hereditary and pathology\u201d"],"award-info":[{"award-number":["FSRG-2020-0014 \u201cGenomics of Arctic: epidemiology, hereditary and pathology\u201d"]}]},{"name":"Ministry Education and Science of Russian Federation","award":["JP17K05088"],"award-info":[{"award-number":["JP17K05088"]}]},{"name":"Ministry Education and Science of Russian Federation","award":["JP22H03046"],"award-info":[{"award-number":["JP22H03046"]}]},{"DOI":"10.13039\/501100001691","name":"JJSPS KAKENHI","doi-asserted-by":"publisher","award":["FSRG-2020-0014 \u201cGenomics of Arctic: epidemiology, hereditary and pathology\u201d"],"award-info":[{"award-number":["FSRG-2020-0014 \u201cGenomics of Arctic: epidemiology, hereditary and pathology\u201d"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"JJSPS KAKENHI","doi-asserted-by":"publisher","award":["JP17K05088"],"award-info":[{"award-number":["JP17K05088"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"JJSPS KAKENHI","doi-asserted-by":"publisher","award":["JP22H03046"],"award-info":[{"award-number":["JP22H03046"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>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\u2014including 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 (\u201cPlus symptoms\u201d) uncommon in conventional MPS. Here, we analyze data from biochemical, histological, and physical examinations\u2014particularly of blood counts and kidney function\u2014to 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.<\/jats:p>","DOI":"10.3390\/ijms23105851","type":"journal-article","created":{"date-parts":[[2022,5,23]],"date-time":"2022-05-23T22:57:22Z","timestamp":1653346642000},"page":"5851","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome"],"prefix":"10.3390","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9029-1694","authenticated-orcid":false,"given":"Viktoriia","family":"Sofronova","sequence":"first","affiliation":[{"name":"Department of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki 701-0192, Japan"},{"name":"Laboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rina","family":"Iwata","sequence":"additional","affiliation":[{"name":"Department of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki 701-0192, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takuya","family":"Moriya","sequence":"additional","affiliation":[{"name":"Department of Pathology, Kawasaki Medical School, Kurashiki 701-0192, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiunniai","family":"Loskutova","sequence":"additional","affiliation":[{"name":"Department of Pathological Anatomy, Republic Hospital No. 1\u2014National Center of Medicine, 677019 Yakutsk, Russia"},{"name":"Medical Institute, North-Eastern Federal University, 677013 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizaveta","family":"Gurinova","sequence":"additional","affiliation":[{"name":"Medical Genetics Center, Republic Hospital No. 1\u2014National Center of Medicine, 677019 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mairanush","family":"Chernova","sequence":"additional","affiliation":[{"name":"Department of Children\u2019s Health and Pathological Anatomy, Republic Hospital No. 1\u2014National Center of Medicine, 677019 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anastasia","family":"Timofeeva","sequence":"additional","affiliation":[{"name":"Department of Children\u2019s Health and Pathological Anatomy, Republic Hospital No. 1\u2014National Center of Medicine, 677019 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Shvedova","sequence":"additional","affiliation":[{"name":"Department of Children\u2019s Health and Pathological Anatomy, Republic Hospital No. 1\u2014National Center of Medicine, 677019 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0315-852X","authenticated-orcid":false,"given":"Filipp","family":"Vasilev","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saina","family":"Novgorodova","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6019-1628","authenticated-orcid":false,"given":"Seigo","family":"Terawaki","sequence":"additional","affiliation":[{"name":"Department of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki 701-0192, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takahito","family":"Moriwaki","sequence":"additional","affiliation":[{"name":"Department of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki 701-0192, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aitalina","family":"Sukhomyasova","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia"},{"name":"Medical Genetics Center, Republic Hospital No. 1\u2014National Center of Medicine, 677019 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8258-7452","authenticated-orcid":false,"given":"Nadezhda","family":"Maksimova","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8490-7299","authenticated-orcid":false,"given":"Takanobu","family":"Otomo","sequence":"additional","affiliation":[{"name":"Department of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki 701-0192, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,5,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1038\/s41572-018-0025-4","article-title":"Lysosomal storage diseases","volume":"4","author":"Platt","year":"2018","journal-title":"Nat. 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I Det."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/23\/10\/5851\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T23:17:15Z","timestamp":1760138235000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/23\/10\/5851"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,23]]},"references-count":22,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2022,5]]}},"alternative-id":["ijms23105851"],"URL":"https:\/\/doi.org\/10.3390\/ijms23105851","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,5,23]]}}}