<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>0872-671X</journal-id>
<journal-title><![CDATA[Medicina Interna]]></journal-title>
<abbrev-journal-title><![CDATA[Medicina Interna]]></abbrev-journal-title>
<issn>0872-671X</issn>
<publisher>
<publisher-name><![CDATA[Sociedade Portuguesa de Medicina Interna]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0872-671X2022000200036</article-id>
<article-id pub-id-type="doi">10.24950/rspmi.631</article-id>
<title-group>
<article-title xml:lang="pt"><![CDATA[Osteogénese Imperfeita Em Adultos: A Experiência de um Centro Hospitalar]]></article-title>
<article-title xml:lang="en"><![CDATA[Osteogenesis lmperfecta in Adults: Experience of a Hospital Center]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Martins]]></surname>
<given-names><![CDATA[Rute Sousa]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Baptista]]></surname>
<given-names><![CDATA[Patrícia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Rocha]]></surname>
<given-names><![CDATA[Sara]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Guimas]]></surname>
<given-names><![CDATA[Arlindo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ribeiro]]></surname>
<given-names><![CDATA[Rosa]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Centro Hospitalar Universitário do Porto Serviço de Medicina Interna ]]></institution>
<addr-line><![CDATA[Porto ]]></addr-line>
<country>Portugal</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Centro Hospitalar Universitário do Porto Centro de Referência na área das Doenças Hereditárias do Metabolismo ]]></institution>
<addr-line><![CDATA[Porto ]]></addr-line>
<country>Portugal</country>
</aff>
<pub-date pub-type="pub">
<day>30</day>
<month>06</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>30</day>
<month>06</month>
<year>2022</year>
</pub-date>
<volume>29</volume>
<numero>2</numero>
<fpage>36</fpage>
<lpage>43</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_arttext&amp;pid=S0872-671X2022000200036&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_abstract&amp;pid=S0872-671X2022000200036&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.pt/scielo.php?script=sci_pdf&amp;pid=S0872-671X2022000200036&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="pt"><p><![CDATA[Resumo  Introdução:  A osteogénese imperfeita (OI) é uma doença genética rara caraterizada principalmente pela fragilidade óssea, podendo ter uma série de manifestações sistémicas. A sua gestão implica uma abordagem multidisciplinar. Os autores pretendem descrever as caraterísticas de uma população adulta com OI e avaliar o tratamento usado.  Material e Métodos:  Estudo observacional e retrospetivo com base nos dados obtidos através da consulta de processos clínicos de doentes com idade superior a 18 anos com diagnóstico clínico de OI, seguidos na consulta de Doenças Hereditárias do Metabolismo no Centro Hospitalar. Foram registados dados da história médica reportada pelos doentes, do exame físico realizado pelo médico assistente, os resultados laboratoriais, radiográficos e de densitometrias ósseas, bem como as terapêuticas utilizadas.  Resultados:  Foram incluídos 20 doentes com idades entre os 19 e os 61 anos, 75,0% dos doentes tinham OI tipo I, 15,0% do tipo III e 10,0% do tipo IV. O número médio de fraturas foi de 15,45 ± 15,39, tendo sido superior nos doentes do tipo Ili e do tipo IV. Relativamente à densidade mineral óssea, 50,0% dos doentes com menos de 50 anos e 100,0% dos doentes mais de 50 anos do tipo I apresentaram critérios de osteoporose, bem como 66,6% e 50,0% dos doentes do tipo Ili e IV, respetivamente. Cerca de 90,0% dos doentes foram medicados com bifosfonatos em algum momento da sua vida.  Conclusão:  A OI apresenta grande variabilidade clínica. Não há tratamento curativo, mas a suplementação de cálcio, vitamina D e tratamento com bifosfonatos procuram reduzir a incidência de fraturas.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  lntroduction:  Osteogenesis imperfecta (OI) is a rare genetic disease characterized mainly by bane fragility and can have a series of systemic manifestations. lts management involves a multidisciplinary approach. The authors intend to describe the characteristics of an adult population with 01 and evaluate the treatment used.  Material and Methods: An observational and retrospective study based on data obtained from the clínical files of patients, aged older than 18 years, with clínical diagnosis of osteogenesis imperfecta, followed at outpatient clinic of Metabolic Hereditary Oiseases at Hospital Centre. Data were recorded from the medical history reported by the patients, physical examination, radiological, laboratory and bane densitometry data as well as used treatment.  Results:  Twenty patients were included aged between 19 and 61 years old, 75.0% of them were classified type I 01, 15. 0% type III and 10, 0% type IV. The mean number of fractures were 15. 45 ± 15. 39 and this number was higher in type III and IV patients. Regarding bane mineral density, 50. 0% of patients under 50 years old and 100. 0% of patients older than 50 years presented osteoporosis criteria, as well as 66. 6% and 50.0% of type III and IV patients, respectively. About 90.0% of patients reported being treated with bisphosphonates at some point in their tives.  Conclusion:  OI is a disease with great clínical variability. There is no cure, but vitamin O, calcium supplementation and bisphosphonate treatment seek to reduce the incidence of fractures.]]></p></abstract>
<kwd-group>
<kwd lng="pt"><![CDATA[Adulto]]></kwd>
<kwd lng="pt"><![CDATA[Difosfonatos]]></kwd>
<kwd lng="pt"><![CDATA[Osteogénese Imperfeita.]]></kwd>
<kwd lng="en"><![CDATA[Adult]]></kwd>
<kwd lng="en"><![CDATA[Oisphosphonates]]></kwd>
<kwd lng="en"><![CDATA[Osteogenesis lmperfecta.]]></kwd>
</kwd-group>
</article-meta>
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