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Previous issue date: 2014 / Amelog?nese imperfeita (AI) representa um complexo grupo de condi??es herdadas que provocam malforma??es do esmalte dent?rio em quantidade ou qualidade. Nefrocalcinose (NC) ? a deposi??o de sais de c?lcio no par?nquima renal que pode, em longo prazo e na aus?ncia de tratamento adequado, levar ? insufici?ncia renal cr?nica e outros dist?rbios renais. Estas duas condi??es, simultaneamente, representam a s?ndrome da amelog?nese imperfeita e nefrocalcinose (SAINC), ou s?ndrome esmalte renal, uma desordem autoss?mica recessiva causada por muta??es no gene FAM20A, com poucos casos relatados na literatura. A proposta do presente estudo foi investigar as caracter?sticas da s?ndrome em indiv?duos de quatro fam?lias brasileiras. Os pacientes foram submetidos ao exame cl?nico, radiogr?fico, investiga??o renal e exames hematol?gicos e de marcadores bioqu?micos, sendo identificados nove pacientes portadores da s?ndrome. O exame cl?nico revelou dentes pequenos e de colora??o amarelada, desgaste oclusal/incisal, reten??o da denti??o dec?dua e hiperplasia gengival. As radiografias mostraram les?es pericoron?rias radiol?cidas envolvendo dentes permanentes impactados, aus?ncia de contraste entre esmalte e dentina e calcifica??es intrapulpares. Os exames bioqu?micos evidenciaram, em quatro pacientes, baixos n?veis de vitamina D 25-OH e altos n?veis de fosfatase alcalina e paratorm?nio. A ultrassonografia revelou nefrocalcinose bilateral, mas, os pacientes ainda, n?o demonstraram nenhuma manifesta??o de doen?a renal. Outras caracter?sticas menos comuns como defici?ncia mental e cistos renais foram encontradas, o que confirma o grande espectro de altera??es fenot?picas desta s?ndrome, j? descrita anteriormente. Estes resultados confirmam as varia??es fenot?picas da SAINC e refor?am a necessidade de investiga??o renal em pacientes com diagn?stico de AI, principalmente do tipo hipopl?sica. / Disserta??o (Mestrado) ? Programa de P?s-Gradua??o em Odontologia, Universidade Federal dos Vales do Jequitinhonha e Mucuri, 2014. / ABSTRACT Amelogenesis imperfecta (AI) is a complex group of conditions that cause inherited defects of dental enamel in quantity or quality. Nephrocalcinosis (NC) is the deposition of calcium salts at the renal parenchyma, which may in the long term and in the absence of proper treatment, lead to chronic renal failure and other kidney disorders. These two conditions simultaneously represent the amelogenesis imperfecta and nephrocalcinosis syndrome (AINCS), or enamel renal syndrome, an autosomal recessive disorder caused by mutations in FAM20A gene, with few cases reported in the literature. The purpose of this study was to investigate the characteristics of the syndrome in patients from four Brazilian families. Patients underwent clinical examination, radiographic, renal and haematological investigation and biochemical markers examinations, being identified nine patients with this syndrome. Clinical examination revealed small and yellowish teeth, occlusal/incisal wear, retention of deciduous dentition and gingival hyperplasia. The radiographs showed pericoronal radiolucencies involving impacted permanent teeth, absence of contrast between enamel and dentin and intrapulpal calcifications. Biochemical tests showed low levels of 25-OH vitamin D and high levels of alkaline phosphatase and parathyroid hormone in four patients. Ultrasonography revealed bilateral nephrocalcinosis, but patients still showed no manifestation of renal disease. Other characteristics as mental retardation and renal cysts were found, confirming the wide spectrum of phenotypic alterations of this syndrome previously described. These results confirm the phenotypic variations AINCS and reinforce the need for kidney research in patients with AI, especially the hypoplastic type.
| Identifer | oai:union.ndltd.org:IBICT/oai:acervo.ufvjm.edu.br/jspui:1/300 |
| Date | 21 February 2014 |
| Creators | Dourado, Mauricio da Rocha |
| Contributors | Martelli Junior, Herc?lio, Santos, C?ssio Roberto Rocha dos, Coletta, Ricardo Della, Universidade Federal dos Vales do Jequitinhonha e Mucuri (UFVJM), Mesquita, Ana Terezinha Marques |
| Publisher | UFVJM |
| Source Sets | IBICT Brazilian ETDs |
| Language | Portuguese |
| Detected Language | English |
| Type | info:eu-repo/semantics/publishedVersion, info:eu-repo/semantics/masterThesis |
| Source | reponame:Repositório Institucional da UFVJM, instname:Universidade Federal dos Vales do Jequitinhonha e Mucuri, instacron:UFVJM |
| Rights | A concess?o da licen?a deste item refere-se ao ? termo de autoriza??o impresso assinado pelo autor, assim como na licen?a Creative Commons, com as seguintes condi??es: Na qualidade de titular dos direitos de autor da publica??o, autorizo a Universidade Federal dos Vales do Jequitinhonha e Mucuri e o IBICT a disponibilizar por meio de seus reposit?rios, sem ressarcimento dos direitos autorais, de acordo com a Lei n? 9610/98, o texto integral da obra disponibilizada, conforme permiss?es assinaladas, para fins de leitura, impress?o e/ou download, a t?tulo de divulga??o da produ??o cient?fica brasileira, e preserva??o, a partir desta data., info:eu-repo/semantics/openAccess |
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