<?xml version="1.0" encoding="UTF-8"?>
<!DOCTYPE article PUBLIC "-//NLM//DTD JATS (Z39.96) Journal Publishing DTD v1.2d1 20170631//EN" "JATS-journalpublishing1.dtd">
<ArticleSet>
  <Article>
    <Journal>
      <PublisherName>revista-medicina-scolara</PublisherName>
      <JournalTitle>The Journal of School and University Medicine</JournalTitle>
      <PISSN/>
      <EISSN/>
      <Volume-Issue/>
      <PartNumber/>
      <IssueTopic>Multidisciplinary</IssueTopic>
      <IssueLanguage>English</IssueLanguage>
      <Season/>
      <SpecialIssue>N</SpecialIssue>
      <SupplementaryIssue>N</SupplementaryIssue>
      <IssueOA>Y</IssueOA>
      <PubDate>
        <Year>-0001</Year>
        <Month>11</Month>
        <Day>30</Day>
      </PubDate>
      <ArticleType>Medical</ArticleType>
      <ArticleTitle>Intoleranta genetica la lactoza de tip adult. Caz clinic
</ArticleTitle>
      <SubTitle/>
      <ArticleLanguage>English</ArticleLanguage>
      <ArticleOA>Y</ArticleOA>
      <FirstPage>0</FirstPage>
      <LastPage>0</LastPage>
      <AuthorList>
        <Author>
          <FirstName>Bianca</FirstName>
          <LastName>Huluban</LastName>
          <AuthorLanguage>English</AuthorLanguage>
          <Affiliation/>
          <CorrespondingAuthor>N</CorrespondingAuthor>
          <ORCID/>
        </Author>
      </AuthorList>
      <DOI/>
      <Abstract>Rezumat 

Intoleran?a la lactoz? apre la un individ susceptibil genetic, prin deficit de lactaz? la nivelul intestinului sub?ire, care determin? simptomatologie cu debut brusc dup? consum de lactoz?. Tratamentul este unul în principal dietetic.

Pacientul în vârst? de 10 ani se prezint? pentru dureri abdominale, scaune diareice, inapeten??, cu debut în urm? cu 3 luni. Clinic ?i anamnestic ne-am orientat spre un sindrom de malabsorb?ie, în spe?? o boal? celiac?, având în vedere antecedentele heredo-colaterale (AHC) pozitive pentru boala Hashimoto ?i diabet zaharat tip 1 (DZ tip1) la un pacient cu boal? diareic? recidivant?/cronic?. Serologic, am exclus celiachia ?i nu au existat argumente paraclinice pentru boal? inflamatorie intestinal?. Pe parcursul intern?rii, consumul de lactate agraveaz? simptomele digestive ?i astfel se ridic? suspiciunea unui intoleran?e genetice la lactoz? de tip adult. Diagnosticul e confirmat ini?ial prin proba terapeutic? de excludere a lactozei, sub care simptomatologia cedeaz?, apoi prin testare genetic?.



Abstract

Lactose intolerance occurs in a genetically susceptible individual through lactase deficiency in the small intestine, which causes symptoms with sudden onset after lactose consumption. The treatment is mainly dietetic.

            Patient, aged 10, presents abdominal pain, diarrhea, loss of appetite, with onset of 3 months. Clinically and anamnestically, we focused on a malabsorption syndrome, particulary  a celiac disease considering positive family history for Hashimoto's disease and type 1 diabetes in a patient with  recurrent / chronic diarrheal disease. Serologically, we ruled out celiac disease and there are no paraclinical arguments for inflammatory bowel disease. During hospitalization, dairy consumption aggravates symptoms and thus raises the suspicion of a genetic lactose intolerance, adult-type. The diagnosis is confirmed initially by following a lactose free-diet, under which the symptoms subside and, afterwards, by genetic testing.</Abstract>
      <AbstractLanguage>English</AbstractLanguage>
      <Keywords>lactose intolerance, genetic testing</Keywords>
      <URLs>
        <Abstract>https://www.revista-medicina-scolara.ro/ubijournal-v1copy/journals/abstract.php?article_id=13408&amp;title=Intoleranta genetica la lactoza de tip adult. Caz clinic</Abstract>
      </URLs>
      <References>
        <ReferencesarticleTitle>References</ReferencesarticleTitle>
        <ReferencesfirstPage>16</ReferencesfirstPage>
        <ReferenceslastPage>19</ReferenceslastPage>
        <References/>
      </References>
    </Journal>
  </Article>
</ArticleSet>