Rare Case of Morquio Syndrome (Mucopolysaccharidosis Type IVA): Difficulties of Diagnostic Search and Management
Background. This clinical case is of practical interest due to the lack of epidemiological and clinical data in Russian Federation and worldwide, difficulties in diagnosis at the disease onset, as well as little experience in enzyme replacement therapy for mucopolysaccharidosis type IVA (MPS IVA).Cl...
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Union of pediatricians of Russia
2022-03-01
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| Series: | Педиатрическая фармакология |
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| Online Access: | https://www.pedpharma.ru/jour/article/view/2129 |
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| author | Yulia P. Semschikova Yurii A. Kozlov Andrei B. Yakovlev Vera M. Shinkareva Tatyana V. Barzunova Natalia I. Manjkova Evgenii A. Balakirev |
| author_facet | Yulia P. Semschikova Yurii A. Kozlov Andrei B. Yakovlev Vera M. Shinkareva Tatyana V. Barzunova Natalia I. Manjkova Evgenii A. Balakirev |
| author_sort | Yulia P. Semschikova |
| collection | DOAJ |
| description | Background. This clinical case is of practical interest due to the lack of epidemiological and clinical data in Russian Federation and worldwide, difficulties in diagnosis at the disease onset, as well as little experience in enzyme replacement therapy for mucopolysaccharidosis type IVA (MPS IVA).Clinical case description. MPS IV (Morquio syndrome) diagnosis at the age of 11 was based on typical progressive external signs such as thoracolumbar scoliosis, coxarthrosis with restriction of both active and passive movements. Enzymodiagnostics in dried blood spots has shown dramatic decrease of N-acetylgalactosamine-6-sulfatase activity — 0.01 μM/l/h specific to MPS IVA. Direct automatic sequencing of the GALNS gene has revealed pathogenic nucleotide variants in the compound heterozygous state: c.143T>G; p(Val48Gly) and c.697G>A; p.(Asp233Asn). That allowed us to establish MPS IVA diagnosis. Enzyme replacement therapy with elosulfase alpha was started according to the protocol. According to significant changes in the musculoskeletal system, the expected therapeutic effect (stabilization and no disease progression) can be achieved not earlier than after 8–12 months.Conclusion. Timely MPS diagnosis allows us to implement enzyme replacement therapy at the earliest possible time and thereby to avoid non-reversible complications of the disease itself. |
| format | Article |
| id | doaj-art-5d2ea79c43044046b4afe0fe96418f24 |
| institution | Kabale University |
| issn | 1727-5776 2500-3089 |
| language | Russian |
| publishDate | 2022-03-01 |
| publisher | Union of pediatricians of Russia |
| record_format | Article |
| series | Педиатрическая фармакология |
| spelling | doaj-art-5d2ea79c43044046b4afe0fe96418f242025-08-20T03:59:21ZrusUnion of pediatricians of RussiaПедиатрическая фармакология1727-57762500-30892022-03-01191394410.15690/pf.v19i1.23521875Rare Case of Morquio Syndrome (Mucopolysaccharidosis Type IVA): Difficulties of Diagnostic Search and ManagementYulia P. Semschikova0Yurii A. Kozlov1Andrei B. Yakovlev2Vera M. Shinkareva3Tatyana V. Barzunova4Natalia I. Manjkova5Evgenii A. Balakirev6Irkutsk State Medical UniversityIrkutsk State Regional Children’s Clinical HospitalIvano-Matreninsky City Children’s Clinical HospitalIrkutsk State Regional Children’s Clinical HospitalIrkutsk State Medical UniversityIrkutsk State Medical UniversityIrkutsk State Regional Children’s Clinical HospitalBackground. This clinical case is of practical interest due to the lack of epidemiological and clinical data in Russian Federation and worldwide, difficulties in diagnosis at the disease onset, as well as little experience in enzyme replacement therapy for mucopolysaccharidosis type IVA (MPS IVA).Clinical case description. MPS IV (Morquio syndrome) diagnosis at the age of 11 was based on typical progressive external signs such as thoracolumbar scoliosis, coxarthrosis with restriction of both active and passive movements. Enzymodiagnostics in dried blood spots has shown dramatic decrease of N-acetylgalactosamine-6-sulfatase activity — 0.01 μM/l/h specific to MPS IVA. Direct automatic sequencing of the GALNS gene has revealed pathogenic nucleotide variants in the compound heterozygous state: c.143T>G; p(Val48Gly) and c.697G>A; p.(Asp233Asn). That allowed us to establish MPS IVA diagnosis. Enzyme replacement therapy with elosulfase alpha was started according to the protocol. According to significant changes in the musculoskeletal system, the expected therapeutic effect (stabilization and no disease progression) can be achieved not earlier than after 8–12 months.Conclusion. Timely MPS diagnosis allows us to implement enzyme replacement therapy at the earliest possible time and thereby to avoid non-reversible complications of the disease itself.https://www.pedpharma.ru/jour/article/view/2129mucopolysaccharidosis clinical caselysosomal storage diseasesmorquio syndrome аcongenital defect of keratin sulfate metabolismchondroitin 6-sulphateosteochondrodystrophyspondiloepiphysial dysplasiaelosulfaseenzyme replacement therapyinfants |
| spellingShingle | Yulia P. Semschikova Yurii A. Kozlov Andrei B. Yakovlev Vera M. Shinkareva Tatyana V. Barzunova Natalia I. Manjkova Evgenii A. Balakirev Rare Case of Morquio Syndrome (Mucopolysaccharidosis Type IVA): Difficulties of Diagnostic Search and Management Педиатрическая фармакология mucopolysaccharidosis clinical case lysosomal storage diseases morquio syndrome а congenital defect of keratin sulfate metabolism chondroitin 6-sulphate osteochondrodystrophy spondiloepiphysial dysplasia elosulfase enzyme replacement therapy infants |
| title | Rare Case of Morquio Syndrome (Mucopolysaccharidosis Type IVA): Difficulties of Diagnostic Search and Management |
| title_full | Rare Case of Morquio Syndrome (Mucopolysaccharidosis Type IVA): Difficulties of Diagnostic Search and Management |
| title_fullStr | Rare Case of Morquio Syndrome (Mucopolysaccharidosis Type IVA): Difficulties of Diagnostic Search and Management |
| title_full_unstemmed | Rare Case of Morquio Syndrome (Mucopolysaccharidosis Type IVA): Difficulties of Diagnostic Search and Management |
| title_short | Rare Case of Morquio Syndrome (Mucopolysaccharidosis Type IVA): Difficulties of Diagnostic Search and Management |
| title_sort | rare case of morquio syndrome mucopolysaccharidosis type iva difficulties of diagnostic search and management |
| topic | mucopolysaccharidosis clinical case lysosomal storage diseases morquio syndrome а congenital defect of keratin sulfate metabolism chondroitin 6-sulphate osteochondrodystrophy spondiloepiphysial dysplasia elosulfase enzyme replacement therapy infants |
| url | https://www.pedpharma.ru/jour/article/view/2129 |
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