New Aspects of Genetic Basis, Classification and Treatment of Osteogenesis Imperfecta: Literature Review

Яхяева, Г. Т.; Намазова-Баранова, Л. С.; Маргиева, Т. В.

doi:10.15690/pf.v12i5.1461

Cited by 3 publications

(2 citation statements)

References 44 publications

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“…The types do not go from mildest to most severe. This classification system has been generally accepted world wide since 1979 OI continues to evolve as new information is discovered (Yakhyayeva et al, 2015b). Later this classification was supplemented by M. Ramachandran et al (Pigarova et al, 2017), which also took into account the violation of dentinogenesis, OI the IV type of OI was subdivided into subtype B, which is accompanied by defects of dentinogenesis, and subtype A, which does not have these violations.…”

Section: Evolution Of Classification Criteria Of Osteogenesis Imperfectamentioning

confidence: 99%

Modern classification and molecular-genetic aspects of osteogenesis imperfecta

Zaripova

Хусаинова

2020

Vestn. VOGiS

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Osteogenesis imperfecta (imperfect osteogenesis in the Russian literature) is the most common hereditary form of bone fragility, it is a genetically and clinically heterogeneous disease with a wide range of clinical severity, often leading to disability from early childhood. It is based on genetic disorders leading to a violation of the structure of bone tissue, which leads to frequent fractures, impaired growth and posture, with the development of characteristic disabling bone deformities and associated problems, including respiratory, neurological, cardiac, renal impairment, hearing loss. Osteogenesis imperfecta occurs in both men and women, the disease is inherited in both autosomal dominant and autosomal recessive types, there are sporadic cases of the disease due to de novomutations, as well as X-linked forms. The term “osteogenesis imperfecta” was coined by W. Vrolick in the 1840s. The first classification of the disease was made in 1979 and has been repeatedly reviewed due to the identification of the molecular cause of the disease and the discovery of new mechanisms for the development of osteogenesis imperfecta. In the early 1980s, mutations in two genes of collagen type I (COL1A1and COL1A2) were first associated with an autosomal dominant inheritance type of osteogenesis imperfecta. Since then, 18 more genes have been identified whose products are involved in the formation and mineralization of bone tissue. The degree of genetic heterogeneity of the disease has not yet been determined, researchers continue to identify new genes involved in its pathogenesis, the number of which has reached 20. In the last decade, it has become known that autosomal recessive, autosomal dominant and X-linked mutations in a wide range of genes, encoding proteins that are involved in the synthesis of type I collagen, its processing, secretion and post-translational modification, as well as in proteins that regulate the differentiation and activity of bone-forming cells, cause imperfect osteogenesis. A large number of causative genes complicated the classical classification of the disease and, due to new advances in the molecular basis of the disease, the classification of the disease is constantly being improved. In this review, we systematized and summarized information on the results of studies in the field of clinical and genetic aspects of osteogenesis imperfecta and reflected the current state of the classification criteria for diagnosing the disease.

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Section: Evolution Of Classification Criteria Of Osteogenesis Imperfectamentioning

confidence: 99%

Modern classification and molecular-genetic aspects of osteogenesis imperfecta

Zaripova

Хусаинова

2020

Vestn. VOGiS

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“…В настоящее время имеются данные об эффективности применения деносумаба у пациентов с описанным типом заболевания, который действует на остеокласты посредством иного механизма: через ингибирование системы RANK/RANKL/остеопротегерин препарат предотвращает созревание и активацию остеокластов до того, как они адгезируются на костном матриксе [32]. Этот терапевтический эффект характеризуется независимостью от состояния минерализации кости, объясняя наблюдение, описанное ранее, что деносумаб более эффективно снижает резорбцию кости у пациентов с НО VI типа, чем бисфосфонаты [15,33].…”

Section: клинический случай о пациентеunclassified

Clinic Case of Rare Type VI Osteogenesis Imperfecta

et al. 2019

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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.

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Possible Interventions to the Emotional and Personality Domains of Children and Adolescents with Osteogenesis Imperfecta in the Course of a Social and Psychological Rehabilitation Program

Kurtanova

Meshcheryakova²,

Kharitonov³

et al. 2022

Клиническая И Специальная Психология

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The article is devoted to the study of the features of the emotional and personal domains of children and adolescents with osteogenesis imperfecta. The effectiveness of the use of a socio-psychological rehabilitation program in the several following areas was also studies. Reducing the severity of aggressiveness and anxiety, developing of a sociability, changing of a self-esteem and the attitude to one's disease, the development of new significant children and adolescents needs with osteogenesis imperfecta. The study involved 58 children and adolescents aged 9–19 years (13.2±2.39 years) with osteogenesis imperfecta, including 36 girls and 22 boys. The control group consisted of 25 children and adolescents aged 9–19 years (13.8±3.12 years) without chronic somatic diseases, including 13 girls and 12 boys. The study was based on the following methods: M. Kuhn’s test “Who am I” (modified by T.V. Rumyantseva, 2006), the “Non-existent animal” method (M.Z. Dukarevich, 1990), an abbreviated version of the “Incomplete sentences” method (V.E. Kagan and I.K. Shats, 2003) and the technique of "Tsvetik-Semitsvetik" (I.M. Vitkovskaya, 2010). The features of the emotional and personal domains of children and adolescents with osteogenesis imperfecta were revealed in comparison with their healthy peers, consisting in a negative assessment of their physical self, the predominance of fear of aggression and a reduced subjective significance of their moral needs. It was noted that the indicator of an adequate idea of their disease increases, negative emotional experiences regarding their disease intensify, and the motivation for recovery increases. This phenomenon interacts with age in children and adolescents with imperfect osteogenesis. The study also partially proved the effectiveness of the proposed rehabilitation program, as a result of which children and adolescents with osteogenesis imperfecta showed positive dynamics in expanding the main parameters of identity, increased self-esteem of their physical self and sociability, and also decreased indicators of verbal aggression and anxiety. The priority of biological and communicative needs has decreased, the needs for personal changes and material needs have come to the fore. As a result of the rehabilitation program in children and adolescents with imperfect osteogenesis, self-reported indicators of fixation on pain decreased; the number of children openly showing emotional experiences regarding the disease has increased.

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New Aspects of Genetic Basis, Classification and Treatment of Osteogenesis Imperfecta: Literature Review

Cited by 3 publications

References 44 publications

Modern classification and molecular-genetic aspects of osteogenesis imperfecta

Modern classification and molecular-genetic aspects of osteogenesis imperfecta

Clinic Case of Rare Type VI Osteogenesis Imperfecta

Possible Interventions to the Emotional and Personality Domains of Children and Adolescents with Osteogenesis Imperfecta in the Course of a Social and Psychological Rehabilitation Program

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