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Repetitive stress fracture: a warning sign of genetic susceptibility to fracture? A case report of a heterozygous variant in SERPINF1
Moreira, Mariana Lima Mascarenhas; Araújo, Iana Mizumukai de; Molfetta, Greice Andreotti de; Silva Jr., Wilson Araújo; Paula, Francisco José Albuquerque de.
Afiliação
  • Moreira, Mariana Lima Mascarenhas; Universidade de São Paulo. Faculdade de Medicina de Ribeirão Preto. Departamento de Clínica Médica. Ribeirão Preto. BR
  • Araújo, Iana Mizumukai de; Universidade de São Paulo. Faculdade de Medicina de Ribeirão Preto. Departamento de Clínica Médica. Ribeirão Preto. BR
  • Molfetta, Greice Andreotti de; Universidade de São Paulo. Faculdade de Medicina de Ribeirão Preto. Departamento de Genética. Ribeirão Preto. BR
  • Silva Jr., Wilson Araújo; Universidade de São Paulo. Faculdade de Medicina de Ribeirão Preto. Departamento de Genética. Ribeirão Preto. BR
  • Paula, Francisco José Albuquerque de; Universidade de São Paulo. Faculdade de Medicina de Ribeirão Preto. Departamento de Clínica Médica. Ribeirão Preto. BR
Arch. endocrinol. metab. (Online) ; 65(4): 500-504, July-Aug. 2021. graf
Article em En | LILACS | ID: biblio-1339102
Biblioteca responsável: BR1.1
ABSTRACT
SUMMARY The occurrence of fractures in young individuals is frequently overlooked by physicians, especially when associated with exercise or trauma. Nevertheless, multiple fractures should always be investigated since underlying conditions can predispose to such events. We describe here the case of a young, healthy woman who sustained multiple fractures in the lower limbs, which were initially considered to be "stress fractures". Further investigation, including a panel of genes associated with osteogenesis imperfecta, revealed that the patient is a heterozygous carrier of a SERPINF1 variant. According to criteria recommended by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, this variant is classified as likely benign (PM2, PP3, PP4, BP1, and BP4). The patient's mother and brother were also asymptomatic carriers of the variant and had sustained previous minor fractures. The patient had normal biochemical profile and bone density. This condition has been rarely described and is not associated with low bone mineral density or altered bone turnover markers. This case highlights the importance of investigating multiple fractures in young patients who are otherwise healthy since these may be a warning sign of rare genetic conditions associated with fragility fractures.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: LILACS Assunto principal: Osteogênese Imperfeita / Fraturas de Estresse Limite: Female / Humans / Male Idioma: En Revista: Arch. endocrinol. metab. (Online) Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: LILACS Assunto principal: Osteogênese Imperfeita / Fraturas de Estresse Limite: Female / Humans / Male Idioma: En Revista: Arch. endocrinol. metab. (Online) Ano de publicação: 2021 Tipo de documento: Article