RESUMO
BACKGROUND/AIMS: Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is incompletely understood. METHODS: We investigated 25 patients from 16 families with unexplained nephrocalcinosis and characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption). To identify the causative gene, we performed genome-wide linkage analysis, exome capture, next-generation sequencing, and Sanger sequencing. RESULTS: All patients had bi-allelic FAM20A mutations segregating with the disease; 20 different mutations were identified. CONCLUSIONS: This autosomal recessive disorder, also known as enamel renal syndrome, of FAM20A causes nephrocalcinosis and amelogenesis imperfecta. We speculate that all individuals with biallelic FAM20A mutations will eventually show nephrocalcinosis.
Assuntos
Amelogênese Imperfeita/genética , Proteínas do Esmalte Dentário/genética , Predisposição Genética para Doença/genética , Mutação , Nefrocalcinose/genética , Adolescente , Adulto , Amelogênese Imperfeita/complicações , Amelogênese Imperfeita/patologia , Criança , Consanguinidade , Exoma/genética , Saúde da Família , Feminino , Genes Recessivos/genética , Estudo de Associação Genômica Ampla , Humanos , Masculino , Pessoa de Meia-Idade , Nefrocalcinose/complicações , Nefrocalcinose/patologia , Linhagem , Análise de Sequência de DNA/métodos , Síndrome , Adulto JovemRESUMO
OBJECTIVE: The aim of this study is to present and discuss the demographic characteristics and patterns of assault-related maxillofacial fractures as reported by a European multicenter prospective study. STUDY DESIGN: Demographic and injury data were recorded for each patient who was a victim of an assault. RESULTS: Assaults represented the most frequent etiology of maxillofacial trauma with an overall rate of 39% and the values ranging between 60.8% (Kiev, Ukraine) and 15.4% (Bergen, Norway). The most frequent mechanisms of assault-related maxillofacial fractures were fists in 730 cases, followed by kicks and fists. The most frequently observed fracture involved the mandible (814 fractures), followed by orbito-zygomatic-maxillary complex fractures and orbital fractures. CONCLUSIONS: Our data confirmed the strong possibility that patients with maxillofacial fractures may be victims of physical aggression. The crucial role of alcohol in assault-related fractures was also confirmed by our study.