Clinical manifestations of osteogenesis imperfecta in adulthood: An integrative review of quantitative studies and case reports.
Am J Med Genet A
; 182(4): 842-865, 2020 04.
Article
en En
| MEDLINE
| ID: mdl-32091187
ABSTRACT
Osteogenesis imperfecta (OI) is a rare genetic disorder of the bones caused by a mutation in Type I collagen genes. As adults with OI are aging, medical concerns secondary to OI may arise. This integrative review sought to review, appraise, and synthesize the clinical manifestations faced by adults with OI. Four electronic bibliographic databases were searched. Published quantitative, qualitative, and mixed-methods studies, as well as case reports from 2000 to March 2019, addressing a clinical manifestation in adulthood, were reviewed. Eligible studies and case reports were subsequently appraised using the Mixed Methods Appraisal Tool and Case Report Checklist, respectively. Twenty quantitative studies and 88 case reports were included for review regardless of the varying methodological quality score. These studies collectively included 2,510 adults with different OI types. Several clinical manifestations were studied, and included hearing loss, cardiac diseases, pregnancy complications, cerebrovascular manifestations, musculoskeletal manifestations, respiratory manifestations, vision impairment, and other clinical manifestations. Increased awareness may optimize prevention, treatment, and follow-up. Opportunities to enhance the methodological quality of research including better design and methodology, multisite collaborations, and larger and diverse sampling will optimize the generalizability and transferability of findings.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Osteogénesis Imperfecta
/
Insuficiencia Respiratoria
/
Trastornos de la Visión
/
Trastornos Cerebrovasculares
/
Enfermedades Musculoesqueléticas
/
Pérdida Auditiva
/
Cardiopatías
Tipo de estudio:
Etiology_studies
/
Prognostic_studies
/
Qualitative_research
/
Systematic_reviews
Límite:
Adult
/
Humans
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2020
Tipo del documento:
Article
País de afiliación:
Canadá