RESUMO
Diagnosis of developmental dysplasia of the hip (DDH) mostly relies on physical examination and ultrasound, and both methods are operator-dependent. Late detection can lead to complications in young adults. Current evidence supports the involvement of environmental and genetic factors, such as single nucleotide variants (SNVs). Incorporating genetic factors into diagnostic methods would be useful for implementing early detection and management of affected individuals. Our aim was to analyze environmental factors and SNVs in DDH patients. We included 287 DDH cases and 284 controls. Logistic regression demonstrated an association for sex (OR 9.85, 95% CI 5.55-17.46, p = 0.0001), family history (OR 2.4, 95% CI 1.2-4.5, p = 0.006), fetal presentation (OR 3.19, 95% CI 1.55-6.54, p = 0.002), and oligohydramnios (OR 2.74, 95%CI 1.12-6.70, p = 0.026). A model predicting the risk of DDH including these variables showed sensitivity, specificity, PPV, and NPV of 0.91, 0.53, 0.74, and 0.80 respectively. The SNV rs1800470 in TGFB1 showed an association when adjusted for covariables, OR 0.49 (95% CI 0.27-0.90), p = 0.02. When rs1800470 was included in the equation, sensitivity, specificity, PPV and NPV were 0.90, 0.61, 0.84, and 0.73, respectively. Incorporating no-operator dependent variables and SNVs in detection methods could be useful for establishing uniform clinical guidelines and optimizing health resources.
RESUMO
INTRODUCTION: Residual deformities of hypophosphatemic rickets can be approached with a corrective osteotomy and fixation with a centromedullary nail, external fixators, Ilizarov devices, Kirschner's nails, cast devices, and plates, including epiphysiodesis. These methods may be used in case of fracture. The purpose of this work is to discuss the management of a 16-year-old patient with X-linked hypophosphatemic rickets at the end-stage of growth, who presented with a shaft fracture of the right femur, treated with alignment osteotomy and fixation, and alignment osteotomy of the contralateral femur in a single surgical stage. The patient currently has signs of delayed healing. The main complications of surgical treatment include recurrence of deformity and delayed healing, both of which, until now, can only be addressed by acting on the calcium and phosphorus metabolism. The patients with fractures caused by medium-impact mechanisms should undergo multidisciplinary management and the best implant for each case must be selected individually.