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[Modulation of the phenotypic expression in the patient with cystinuria: influence of therapeutic intervention and diet].

Identifieur interne : 000700 ( Ncbi/Merge ); précédent : 000699; suivant : 000701

[Modulation of the phenotypic expression in the patient with cystinuria: influence of therapeutic intervention and diet].

Auteurs : Francesc Francés [Espagne] ; Dolores Corella ; Paula Carrasco ; Carmen Sáiz ; Marisa Guillén

Source :

RBID : pubmed:17484478

English descriptors

Abstract

The final phenotype of patients with cystinuria depends on the absence or molecular defect, more or less acute, of the transport of cystine and dibasic aminoacids, and, also on environmental factors. The objective of this work is to study the effect of the modulation of some environmental factors (urinary pH, intake of liquids, pharmacological treatment and, specially, diet) on the final phenotype of the patient with cystinuria.

PubMed: 17484478

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pubmed:17484478

Le document en format XML

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<title xml:lang="en">[Modulation of the phenotypic expression in the patient with cystinuria: influence of therapeutic intervention and diet].</title>
<author>
<name sortKey="Frances, Francesc" sort="Frances, Francesc" uniqKey="Frances F" first="Francesc" last="Francés">Francesc Francés</name>
<affiliation wicri:level="1">
<nlm:affiliation>Unidad de Epidemiología Genética y Molecular, Facultad de Medicina, Universidad de Valencia, España. francesc.frances@uv.es</nlm:affiliation>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Unidad de Epidemiología Genética y Molecular, Facultad de Medicina, Universidad de Valencia</wicri:regionArea>
<wicri:noRegion>Universidad de Valencia</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Corella, Dolores" sort="Corella, Dolores" uniqKey="Corella D" first="Dolores" last="Corella">Dolores Corella</name>
</author>
<author>
<name sortKey="Carrasco, Paula" sort="Carrasco, Paula" uniqKey="Carrasco P" first="Paula" last="Carrasco">Paula Carrasco</name>
</author>
<author>
<name sortKey="Saiz, Carmen" sort="Saiz, Carmen" uniqKey="Saiz C" first="Carmen" last="Sáiz">Carmen Sáiz</name>
</author>
<author>
<name sortKey="Guillen, Marisa" sort="Guillen, Marisa" uniqKey="Guillen M" first="Marisa" last="Guillén">Marisa Guillén</name>
</author>
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<idno type="wicri:source">PubMed</idno>
<date when="2007">2007</date>
<idno type="RBID">pubmed:17484478</idno>
<idno type="pmid">17484478</idno>
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<title xml:lang="en">[Modulation of the phenotypic expression in the patient with cystinuria: influence of therapeutic intervention and diet].</title>
<author>
<name sortKey="Frances, Francesc" sort="Frances, Francesc" uniqKey="Frances F" first="Francesc" last="Francés">Francesc Francés</name>
<affiliation wicri:level="1">
<nlm:affiliation>Unidad de Epidemiología Genética y Molecular, Facultad de Medicina, Universidad de Valencia, España. francesc.frances@uv.es</nlm:affiliation>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Unidad de Epidemiología Genética y Molecular, Facultad de Medicina, Universidad de Valencia</wicri:regionArea>
<wicri:noRegion>Universidad de Valencia</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Corella, Dolores" sort="Corella, Dolores" uniqKey="Corella D" first="Dolores" last="Corella">Dolores Corella</name>
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<author>
<name sortKey="Carrasco, Paula" sort="Carrasco, Paula" uniqKey="Carrasco P" first="Paula" last="Carrasco">Paula Carrasco</name>
</author>
<author>
<name sortKey="Saiz, Carmen" sort="Saiz, Carmen" uniqKey="Saiz C" first="Carmen" last="Sáiz">Carmen Sáiz</name>
</author>
<author>
<name sortKey="Guillen, Marisa" sort="Guillen, Marisa" uniqKey="Guillen M" first="Marisa" last="Guillén">Marisa Guillén</name>
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</analytic>
<series>
<title level="j">Archivos espanoles de urologia</title>
<idno type="ISSN">0004-0614</idno>
<imprint>
<date when="2007" type="published">2007</date>
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<keywords scheme="KwdEn" xml:lang="en">
<term>Adolescent</term>
<term>Adult</term>
<term>Amino Acids (urine)</term>
<term>Child</term>
<term>Citrus sinensis</term>
<term>Combined Modality Therapy</term>
<term>Cystine (analysis)</term>
<term>Cystinuria (complications)</term>
<term>Cystinuria (diet therapy)</term>
<term>Cystinuria (drug therapy)</term>
<term>Cystinuria (metabolism)</term>
<term>Cystinuria (therapy)</term>
<term>Dairy Products</term>
<term>Female</term>
<term>Fluid Therapy</term>
<term>Humans</term>
<term>Hydrogen-Ion Concentration</term>
<term>Life Style</term>
<term>Male</term>
<term>Meat (adverse effects)</term>
<term>Middle Aged</term>
<term>Phenotype</term>
<term>Potassium Citrate (therapeutic use)</term>
<term>Sodium Bicarbonate (therapeutic use)</term>
<term>Surveys and Questionnaires</term>
<term>Urine (chemistry)</term>
<term>Urolithiasis (etiology)</term>
<term>Urolithiasis (prevention & control)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="analysis" xml:lang="en">
<term>Cystine</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en">
<term>Potassium Citrate</term>
<term>Sodium Bicarbonate</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="urine" xml:lang="en">
<term>Amino Acids</term>
</keywords>
<keywords scheme="MESH" qualifier="adverse effects" xml:lang="en">
<term>Meat</term>
</keywords>
<keywords scheme="MESH" qualifier="chemistry" xml:lang="en">
<term>Urine</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en">
<term>Cystinuria</term>
</keywords>
<keywords scheme="MESH" qualifier="diet therapy" xml:lang="en">
<term>Cystinuria</term>
</keywords>
<keywords scheme="MESH" qualifier="drug therapy" xml:lang="en">
<term>Cystinuria</term>
</keywords>
<keywords scheme="MESH" qualifier="etiology" xml:lang="en">
<term>Urolithiasis</term>
</keywords>
<keywords scheme="MESH" qualifier="metabolism" xml:lang="en">
<term>Cystinuria</term>
</keywords>
<keywords scheme="MESH" qualifier="prevention & control" xml:lang="en">
<term>Urolithiasis</term>
</keywords>
<keywords scheme="MESH" qualifier="therapy" xml:lang="en">
<term>Cystinuria</term>
</keywords>
<keywords scheme="MESH" xml:lang="en">
<term>Adolescent</term>
<term>Adult</term>
<term>Child</term>
<term>Citrus sinensis</term>
<term>Combined Modality Therapy</term>
<term>Dairy Products</term>
<term>Female</term>
<term>Fluid Therapy</term>
<term>Humans</term>
<term>Hydrogen-Ion Concentration</term>
<term>Life Style</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Phenotype</term>
<term>Surveys and Questionnaires</term>
</keywords>
</textClass>
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</teiHeader>
<front>
<div type="abstract" xml:lang="en">The final phenotype of patients with cystinuria depends on the absence or molecular defect, more or less acute, of the transport of cystine and dibasic aminoacids, and, also on environmental factors. The objective of this work is to study the effect of the modulation of some environmental factors (urinary pH, intake of liquids, pharmacological treatment and, specially, diet) on the final phenotype of the patient with cystinuria.</div>
</front>
</TEI>
<pubmed>
<MedlineCitation Status="MEDLINE" Owner="NLM">
<PMID Version="1">17484478</PMID>
<DateCreated>
<Year>2007</Year>
<Month>5</Month>
<Day>8</Day>
</DateCreated>
<DateCompleted>
<Year>2007</Year>
<Month>06</Month>
<Day>21</Day>
</DateCompleted>
<DateRevised>
<Year>2015</Year>
<Month>11</Month>
<Day>19</Day>
</DateRevised>
<Article PubModel="Print">
<Journal>
<ISSN IssnType="Print">0004-0614</ISSN>
<JournalIssue CitedMedium="Print">
<Volume>60</Volume>
<Issue>2</Issue>
<PubDate>
<Year>2007</Year>
<Month>Mar</Month>
</PubDate>
</JournalIssue>
<Title>Archivos espanoles de urologia</Title>
<ISOAbbreviation>Arch. Esp. Urol.</ISOAbbreviation>
</Journal>
<ArticleTitle>[Modulation of the phenotypic expression in the patient with cystinuria: influence of therapeutic intervention and diet].</ArticleTitle>
<Pagination>
<MedlinePgn>109-18</MedlinePgn>
</Pagination>
<Abstract>
<AbstractText Label="OBJECTIVES" NlmCategory="OBJECTIVE">The final phenotype of patients with cystinuria depends on the absence or molecular defect, more or less acute, of the transport of cystine and dibasic aminoacids, and, also on environmental factors. The objective of this work is to study the effect of the modulation of some environmental factors (urinary pH, intake of liquids, pharmacological treatment and, specially, diet) on the final phenotype of the patient with cystinuria.</AbstractText>
<AbstractText Label="METHODS" NlmCategory="METHODS">We study 45 patients with cystinuria (25 men and 20 women), 42 relatives (15 men and 27 women) and 90 unrelated controls. Anthropometric, clinical (personal and familiar history of urinary infections, colics and calculi expulsion), biochemical (microscopy analysis of urine and urinary aminoacids cuantification) and life style (diet and medical treatment) variables were obtained. Statistical analysis was performed using tests to compare means and frequencies and, also, logistic regression and multivariate analysis.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">Of the 45 patients with cystinuria, only 20% showed cystine cristalls in urine, the rest of the phenotypical manifestations of cystinuria were found with the same prevalence as in relatives and in the control group. 50% of the patients did not undergo any therapeutic intervention; of these, only 50% were effective. In patients with cystinuria, the presence of cystine cristalls was associated with a diet rich in meats and poor in milk products (p < 0.05). Meat consumption also tend to associate with a higher risk of urinary infections, meanwhile the stone expulsion showed a negative tendance with a diet rich in phytate. The elevate consumption of oranges and mandarins was the variable of the diet which was more associated with urinary aminoacids concentrations, specially with lower levels of lysine and arginine (p < 0.05).</AbstractText>
<AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">Some components of the diet, in addition to standard treatment, modulate the phenotypical manifestations of cystinuria.</AbstractText>
</Abstract>
<AuthorList CompleteYN="Y">
<Author ValidYN="Y">
<LastName>Francés</LastName>
<ForeName>Francesc</ForeName>
<Initials>F</Initials>
<AffiliationInfo>
<Affiliation>Unidad de Epidemiología Genética y Molecular, Facultad de Medicina, Universidad de Valencia, España. francesc.frances@uv.es</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Corella</LastName>
<ForeName>Dolores</ForeName>
<Initials>D</Initials>
</Author>
<Author ValidYN="Y">
<LastName>Carrasco</LastName>
<ForeName>Paula</ForeName>
<Initials>P</Initials>
</Author>
<Author ValidYN="Y">
<LastName>Sáiz</LastName>
<ForeName>Carmen</ForeName>
<Initials>C</Initials>
</Author>
<Author ValidYN="Y">
<LastName>Guillén</LastName>
<ForeName>Marisa</ForeName>
<Initials>M</Initials>
</Author>
</AuthorList>
<Language>SPA</Language>
<PublicationTypeList>
<PublicationType UI="D016430">Clinical Trial</PublicationType>
<PublicationType UI="D004740">English Abstract</PublicationType>
<PublicationType UI="D016428">Journal Article</PublicationType>
<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
</PublicationTypeList>
<VernacularTitle>Modulacion de la expresion fenotipica del paciente con cistinuria: influencia de la intervencion terapeutica y de la dieta.</VernacularTitle>
</Article>
<MedlineJournalInfo>
<Country>Spain</Country>
<MedlineTA>Arch Esp Urol</MedlineTA>
<NlmUniqueID>0064757</NlmUniqueID>
<ISSNLinking>0004-0614</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList>
<Chemical>
<RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D000596">Amino Acids</NameOfSubstance>
</Chemical>
<Chemical>
<RegistryNumber>48TCX9A1VT</RegistryNumber>
<NameOfSubstance UI="D003553">Cystine</NameOfSubstance>
</Chemical>
<Chemical>
<RegistryNumber>8MDF5V39QO</RegistryNumber>
<NameOfSubstance UI="D017693">Sodium Bicarbonate</NameOfSubstance>
</Chemical>
<Chemical>
<RegistryNumber>EE90ONI6FF</RegistryNumber>
<NameOfSubstance UI="D019357">Potassium Citrate</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList>
<MeshHeading>
<DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D000596" MajorTopicYN="N">Amino Acids</DescriptorName>
<QualifierName UI="Q000652" MajorTopicYN="N">urine</QualifierName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D032084" MajorTopicYN="N">Citrus sinensis</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D003131" MajorTopicYN="N">Combined Modality Therapy</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D003553" MajorTopicYN="N">Cystine</DescriptorName>
<QualifierName UI="Q000032" MajorTopicYN="N">analysis</QualifierName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D003555" MajorTopicYN="N">Cystinuria</DescriptorName>
<QualifierName UI="Q000150" MajorTopicYN="N">complications</QualifierName>
<QualifierName UI="Q000178" MajorTopicYN="N">diet therapy</QualifierName>
<QualifierName UI="Q000188" MajorTopicYN="N">drug therapy</QualifierName>
<QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName>
<QualifierName UI="Q000628" MajorTopicYN="Y">therapy</QualifierName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D003611" MajorTopicYN="N">Dairy Products</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D005440" MajorTopicYN="N">Fluid Therapy</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D006863" MajorTopicYN="N">Hydrogen-Ion Concentration</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D008019" MajorTopicYN="N">Life Style</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D008460" MajorTopicYN="N">Meat</DescriptorName>
<QualifierName UI="Q000009" MajorTopicYN="N">adverse effects</QualifierName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D010641" MajorTopicYN="N">Phenotype</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D019357" MajorTopicYN="N">Potassium Citrate</DescriptorName>
<QualifierName UI="Q000627" MajorTopicYN="N">therapeutic use</QualifierName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D017693" MajorTopicYN="N">Sodium Bicarbonate</DescriptorName>
<QualifierName UI="Q000627" MajorTopicYN="N">therapeutic use</QualifierName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D011795" MajorTopicYN="N">Surveys and Questionnaires</DescriptorName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D014556" MajorTopicYN="N">Urine</DescriptorName>
<QualifierName UI="Q000737" MajorTopicYN="N">chemistry</QualifierName>
</MeshHeading>
<MeshHeading>
<DescriptorName UI="D052878" MajorTopicYN="N">Urolithiasis</DescriptorName>
<QualifierName UI="Q000209" MajorTopicYN="N">etiology</QualifierName>
<QualifierName UI="Q000517" MajorTopicYN="N">prevention & control</QualifierName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData>
<History>
<PubMedPubDate PubStatus="pubmed">
<Year>2007</Year>
<Month>5</Month>
<Day>9</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline">
<Year>2007</Year>
<Month>6</Month>
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<Year>2007</Year>
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</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
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<ArticleId IdType="pubmed">17484478</ArticleId>
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<li>Espagne</li>
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<noCountry>
<name sortKey="Carrasco, Paula" sort="Carrasco, Paula" uniqKey="Carrasco P" first="Paula" last="Carrasco">Paula Carrasco</name>
<name sortKey="Corella, Dolores" sort="Corella, Dolores" uniqKey="Corella D" first="Dolores" last="Corella">Dolores Corella</name>
<name sortKey="Guillen, Marisa" sort="Guillen, Marisa" uniqKey="Guillen M" first="Marisa" last="Guillén">Marisa Guillén</name>
<name sortKey="Saiz, Carmen" sort="Saiz, Carmen" uniqKey="Saiz C" first="Carmen" last="Sáiz">Carmen Sáiz</name>
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<country name="Espagne">
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<name sortKey="Frances, Francesc" sort="Frances, Francesc" uniqKey="Frances F" first="Francesc" last="Francés">Francesc Francés</name>
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