Clinic Case of Rare Type VI Osteogenesis Imperfecta
Osteogenesis imperfect is genetically heterogeneous group of diseases which are characterized by bone brittleness and fractures. It was thought for a long time that this is happening due to mutations in collagen genes. However, within past decade the understanding of osteogenesis imperfecta etiology...
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| Format: | Article |
| Language: | Russian |
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Union of pediatricians of Russia
2019-04-01
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| Series: | Педиатрическая фармакология |
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| Online Access: | https://www.pedpharma.ru/jour/article/view/1693 |
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| author | Olga N. Ignatovich Leyla S. Namazova-Baranova Tea V. Margieva Natalia V. Zhurkova Kirill V. Savostyanov Alexander V. Pushkov |
| author_facet | Olga N. Ignatovich Leyla S. Namazova-Baranova Tea V. Margieva Natalia V. Zhurkova Kirill V. Savostyanov Alexander V. Pushkov |
| author_sort | Olga N. Ignatovich |
| collection | DOAJ |
| description | Osteogenesis imperfect is genetically heterogeneous group of diseases which are characterized by bone brittleness and fractures. It was thought for a long time that this is happening due to mutations in collagen genes. However, within past decade the understanding of osteogenesis imperfecta etiology has changed as a result of genetics development. The majority of all cases is related to mutations in collagen genes whereas rare mostly recessive forms are related to mutations in genes encoding collagen post-translational modification. Mutations in SERPINF1 gene were chosen as molecular cause of osteogenesis imperfecta type VI in 2011. Thus the new pathophysiology of this disease was revealed. Children with osteogenesis imperfecta type VI have high-frequency of fractures despite the management with bisphosphonates because mineralized bone osteoid is considerably reduced. |
| format | Article |
| id | doaj-art-a2f045dcae64455cb90c0763de04da74 |
| institution | Kabale University |
| issn | 1727-5776 2500-3089 |
| language | Russian |
| publishDate | 2019-04-01 |
| publisher | Union of pediatricians of Russia |
| record_format | Article |
| series | Педиатрическая фармакология |
| spelling | doaj-art-a2f045dcae64455cb90c0763de04da742025-08-20T03:39:29ZrusUnion of pediatricians of RussiaПедиатрическая фармакология1727-57762500-30892019-04-01161303510.15690/pf.v16i1.20011622Clinic Case of Rare Type VI Osteogenesis ImperfectaOlga N. Ignatovich0Leyla S. Namazova-Baranova1Tea V. Margieva2Natalia V. Zhurkova3Kirill V. Savostyanov4Alexander V. Pushkov5National Medical Research Center of Children’s HealthPirogov Russian National Research Medical University; Central Clinical Hospital of the Russian Academy of SciencesNational Medical Research Center of Children’s HealthNational Medical Research Center of Children’s HealthNational Medical Research Center of Children’s HealthNational Medical Research Center of Children’s HealthOsteogenesis imperfect is genetically heterogeneous group of diseases which are characterized by bone brittleness and fractures. It was thought for a long time that this is happening due to mutations in collagen genes. However, within past decade the understanding of osteogenesis imperfecta etiology has changed as a result of genetics development. The majority of all cases is related to mutations in collagen genes whereas rare mostly recessive forms are related to mutations in genes encoding collagen post-translational modification. Mutations in SERPINF1 gene were chosen as molecular cause of osteogenesis imperfecta type VI in 2011. Thus the new pathophysiology of this disease was revealed. Children with osteogenesis imperfecta type VI have high-frequency of fractures despite the management with bisphosphonates because mineralized bone osteoid is considerably reduced.https://www.pedpharma.ru/jour/article/view/1693osteogenesis imperfecta type viserpinf1 genepigment epithelium-derived factor (pedf)children |
| spellingShingle | Olga N. Ignatovich Leyla S. Namazova-Baranova Tea V. Margieva Natalia V. Zhurkova Kirill V. Savostyanov Alexander V. Pushkov Clinic Case of Rare Type VI Osteogenesis Imperfecta Педиатрическая фармакология osteogenesis imperfecta type vi serpinf1 gene pigment epithelium-derived factor (pedf) children |
| title | Clinic Case of Rare Type VI Osteogenesis Imperfecta |
| title_full | Clinic Case of Rare Type VI Osteogenesis Imperfecta |
| title_fullStr | Clinic Case of Rare Type VI Osteogenesis Imperfecta |
| title_full_unstemmed | Clinic Case of Rare Type VI Osteogenesis Imperfecta |
| title_short | Clinic Case of Rare Type VI Osteogenesis Imperfecta |
| title_sort | clinic case of rare type vi osteogenesis imperfecta |
| topic | osteogenesis imperfecta type vi serpinf1 gene pigment epithelium-derived factor (pedf) children |
| url | https://www.pedpharma.ru/jour/article/view/1693 |
| work_keys_str_mv | AT olganignatovich cliniccaseofraretypeviosteogenesisimperfecta AT leylasnamazovabaranova cliniccaseofraretypeviosteogenesisimperfecta AT teavmargieva cliniccaseofraretypeviosteogenesisimperfecta AT nataliavzhurkova cliniccaseofraretypeviosteogenesisimperfecta AT kirillvsavostyanov cliniccaseofraretypeviosteogenesisimperfecta AT alexandervpushkov cliniccaseofraretypeviosteogenesisimperfecta |