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Diagnóstico da displasia do desenvolvimento da anca : estado da arte
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Resumo(s)
A deformidade músculo-esquelética congénita mais comum em ortopedia pediátrica é a displasia
do desenvolvimento da anca (DDA), que engloba todo um conjunto de patologias em que a
incongruência articular da anca impede o normal alinhamento entre o acetábulo e a cabeça do
fémur, podendo estar presente à nascença ou surgir no decorrer da infância. A prevalência de DDA
varia de 1,6 a 28,5 casos por 1000 nascidos vivos, dependendo da definição, método de diagnóstico
usado e da população estudada. Uma vez que não existe nenhum método assumido como Gold
Standard para o diagnóstico de DDA e os que existem são pouco sensíveis e pouco específicos, a
verdadeira incidência de DDA é apenas estimada. A incidência da DDA é 0,86% - 1,15% com
base em exames clínicos e 2,5% - 4,7% com base na ecografia. A sua etiologia não está
completamente esclarecida, estimando-se que seja uma combinação multifatorial, com fatores
biomecânicos intra-uterinos e fatores hereditários. A literatura mostra de forma consistente que a
DDA é mais frequentemente associada ao género feminino, à apresentação pélvica no nascimento,
à primiparidade, ao lado esquerdo da anca, ao elevado peso fetal e à existência de história familiar
de DDA. A maioria dos casos de DDA resolve sem tratamento nos primeiros meses de vida, no
entanto, a DDA não corrigida, principalmente quando associada a luxação da anca, está associada
a significativa morbilidade a longo prazo tornando o diagnóstico precoce da DDA fundamental.
Também no que diz respeito ao rastreio neonatal, têm sido descritas várias estratégias, mas apesar
do intenso debate a nível internacional, a controvérsia permanece. Trata-se portanto de uma
patologia cujo diagnóstico e rastreio geram bastante debate.
The most common congenital musculoskeletal deformity in pediatric orthopedics is the developmental dysplasia of the hip (DDH), which encompasses a whole range of diseases that the hip joint incongruity avoids normal alignment between the acetabulum and the femoral head, which may be present at birth or appear during childhood. The prevalence of DDH varies from 1.6 to 28.5 cases per 1,000 live births, depending on the definition, diagnostic method used and the population studied. Since there is no method assumed as Gold Standard for diagnosis of DDH and those that exist have low sensitivity and specificity, the true incidence of DDH is only estimated. The incidence of DDH is 0.86% - 1.15% based on clinical and 2.5% - 4.7% based on ultrasound. Its etiology is not fully understood, it is estimated to be a multifactorial combination with intrauterine biomechanical factors and hereditary factors. The literature consistently shows that the DDH is most often associated with female gender, breech presentation at birth, primiparity, the left hip, the high fetal weight and the existence of a family history of DDH. Most cases of DDH resolves without treatment in early life however, when not treated, especially when associated with hip dislocation, is associated with significant morbidity in the long term making early diagnosis of DDH key. Also with regard to newborn screening, several strategies have been described, but despite the intense debate at international level, the controversy remains. It is therefore a condition whose diagnosis and screening generate enough debate.
The most common congenital musculoskeletal deformity in pediatric orthopedics is the developmental dysplasia of the hip (DDH), which encompasses a whole range of diseases that the hip joint incongruity avoids normal alignment between the acetabulum and the femoral head, which may be present at birth or appear during childhood. The prevalence of DDH varies from 1.6 to 28.5 cases per 1,000 live births, depending on the definition, diagnostic method used and the population studied. Since there is no method assumed as Gold Standard for diagnosis of DDH and those that exist have low sensitivity and specificity, the true incidence of DDH is only estimated. The incidence of DDH is 0.86% - 1.15% based on clinical and 2.5% - 4.7% based on ultrasound. Its etiology is not fully understood, it is estimated to be a multifactorial combination with intrauterine biomechanical factors and hereditary factors. The literature consistently shows that the DDH is most often associated with female gender, breech presentation at birth, primiparity, the left hip, the high fetal weight and the existence of a family history of DDH. Most cases of DDH resolves without treatment in early life however, when not treated, especially when associated with hip dislocation, is associated with significant morbidity in the long term making early diagnosis of DDH key. Also with regard to newborn screening, several strategies have been described, but despite the intense debate at international level, the controversy remains. It is therefore a condition whose diagnosis and screening generate enough debate.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2016
Palavras-chave
Anca Displasia Radiografia Tomografia computadorizada Ressonância magnética Ortopedia pediátrica