Alkaptonuria in France: past experience and lessons for the future.
Identifieur interne : 000925 ( PubMed/Corpus ); précédent : 000924; suivant : 000926Alkaptonuria in France: past experience and lessons for the future.
Auteurs : Robert Raphael AquaronSource :
- Journal of inherited metabolic disease [ 1573-2665 ] ; 2011.
English descriptors
- KwdEn :
- Adult, Aged, Alkaptonuria (diagnosis), Alkaptonuria (epidemiology), Alkaptonuria (therapy), Causality, Child, Child, Preschool, Comorbidity, Consanguinity, Emigration and Immigration, Female, France (epidemiology), Heart Diseases (epidemiology), Humans, Incidence, Infant, Infant, Newborn, Joint Diseases (epidemiology), Kidney Diseases (epidemiology), Male, Middle Aged, Ochronosis (epidemiology), Parkinson Disease (epidemiology), Sex Distribution.
- MESH :
- geographic , epidemiology : France.
- diagnosis : Alkaptonuria.
- epidemiology : Alkaptonuria, Heart Diseases, Joint Diseases, Kidney Diseases, Ochronosis, Parkinson Disease.
- therapy : Alkaptonuria.
- Adult, Aged, Causality, Child, Child, Preschool, Comorbidity, Consanguinity, Emigration and Immigration, Female, Humans, Incidence, Infant, Infant, Newborn, Male, Middle Aged, Sex Distribution.
Abstract
Alkaptonuria (AKU) is an autosomal recessive disorder due to homogentisate 1,2-dioxygenase (HGD) deficiency in the liver and characterized by a triad of signs, according to chronology of appearance: homogentisic aciduria (HGA) or alkaptonuria, ochronosis then ochronotic arthropathy. This inborn error of metabolism is caused by mutations in the HGD gene. In this work we report observations of 96 AKU French patients from 81 families collected in the literature since 1882 and from our personal contribution since 1986, giving an incidence of the disease of around 1:680,000 (96/64.10(6)). As expected for an autosomal recessive disorder the main findings of this study were: a slight predominance of males (51/93, 54,8%) over females (42/93, 45,2%), a strong predominance of sibships with one affected individual (68/81, 84,0%) over sibships with two (11/81, 13.6%) and three(2/81, 2.4%) affected individuals. AKU families are scaterred among the French territory suggesting that most cases occured in non-consanguineous unions. Consanguinity was only found in five families. Other peculiarities of this study were (a) ten of these families have both parents from a foreign geographical origin: Poland(3), Italy(3), Portugal(2), Ukraine(1) and India(1) and four families with only one foreign parent (Algeria, Armenia, Serbia, UK), (b) HGD mutations were found in 23 families, (c) four of theses 96 patients were seen by us respectively 28, 29, 39 and 45 years after their report in the literature and (d) seven patients present cardiac and/or renal complications.
DOI: 10.1007/s10545-011-9392-7
PubMed: 21927854
Links to Exploration step
pubmed:21927854Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Alkaptonuria in France: past experience and lessons for the future.</title><author><name sortKey="Aquaron, Robert Raphael" sort="Aquaron, Robert Raphael" uniqKey="Aquaron R" first="Robert Raphael" last="Aquaron">Robert Raphael Aquaron</name><affiliation><nlm:affiliation>Laboratoire de biochimie et biologie moléculaire, Aix-Marseille Université, Campus Santé Timone, 27 Boulevard Jean Moulin, 13385, Marseille, cedex5, France. robert.aquaron@univmed.fr</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2011">2011</date><idno type="RBID">pubmed:21927854</idno><idno type="pmid">21927854</idno><idno type="doi">10.1007/s10545-011-9392-7</idno><idno type="wicri:Area/PubMed/Corpus">000925</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000925</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Alkaptonuria in France: past experience and lessons for the future.</title><author><name sortKey="Aquaron, Robert Raphael" sort="Aquaron, Robert Raphael" uniqKey="Aquaron R" first="Robert Raphael" last="Aquaron">Robert Raphael Aquaron</name><affiliation><nlm:affiliation>Laboratoire de biochimie et biologie moléculaire, Aix-Marseille Université, Campus Santé Timone, 27 Boulevard Jean Moulin, 13385, Marseille, cedex5, France. robert.aquaron@univmed.fr</nlm:affiliation></affiliation></author></analytic><series><title level="j">Journal of inherited metabolic disease</title><idno type="eISSN">1573-2665</idno><imprint><date when="2011" type="published">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Alkaptonuria (diagnosis)</term><term>Alkaptonuria (epidemiology)</term><term>Alkaptonuria (therapy)</term><term>Causality</term><term>Child</term><term>Child, Preschool</term><term>Comorbidity</term><term>Consanguinity</term><term>Emigration and Immigration</term><term>Female</term><term>France (epidemiology)</term><term>Heart Diseases (epidemiology)</term><term>Humans</term><term>Incidence</term><term>Infant</term><term>Infant, Newborn</term><term>Joint Diseases (epidemiology)</term><term>Kidney Diseases (epidemiology)</term><term>Male</term><term>Middle Aged</term><term>Ochronosis (epidemiology)</term><term>Parkinson Disease (epidemiology)</term><term>Sex Distribution</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>France</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Alkaptonuria</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Alkaptonuria</term><term>Heart Diseases</term><term>Joint Diseases</term><term>Kidney Diseases</term><term>Ochronosis</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Alkaptonuria</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Causality</term><term>Child</term><term>Child, Preschool</term><term>Comorbidity</term><term>Consanguinity</term><term>Emigration and Immigration</term><term>Female</term><term>Humans</term><term>Incidence</term><term>Infant</term><term>Infant, Newborn</term><term>Male</term><term>Middle Aged</term><term>Sex Distribution</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Alkaptonuria (AKU) is an autosomal recessive disorder due to homogentisate 1,2-dioxygenase (HGD) deficiency in the liver and characterized by a triad of signs, according to chronology of appearance: homogentisic aciduria (HGA) or alkaptonuria, ochronosis then ochronotic arthropathy. This inborn error of metabolism is caused by mutations in the HGD gene. In this work we report observations of 96 AKU French patients from 81 families collected in the literature since 1882 and from our personal contribution since 1986, giving an incidence of the disease of around 1:680,000 (96/64.10(6)). As expected for an autosomal recessive disorder the main findings of this study were: a slight predominance of males (51/93, 54,8%) over females (42/93, 45,2%), a strong predominance of sibships with one affected individual (68/81, 84,0%) over sibships with two (11/81, 13.6%) and three(2/81, 2.4%) affected individuals. AKU families are scaterred among the French territory suggesting that most cases occured in non-consanguineous unions. Consanguinity was only found in five families. Other peculiarities of this study were (a) ten of these families have both parents from a foreign geographical origin: Poland(3), Italy(3), Portugal(2), Ukraine(1) and India(1) and four families with only one foreign parent (Algeria, Armenia, Serbia, UK), (b) HGD mutations were found in 23 families, (c) four of theses 96 patients were seen by us respectively 28, 29, 39 and 45 years after their report in the literature and (d) seven patients present cardiac and/or renal complications.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">21927854</PMID><DateCreated><Year>2011</Year><Month>12</Month><Day>02</Day></DateCreated><DateCompleted><Year>2012</Year><Month>03</Month><Day>27</Day></DateCompleted><DateRevised><Year>2011</Year><Month>12</Month><Day>02</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1573-2665</ISSN><JournalIssue CitedMedium="Internet"><Volume>34</Volume><Issue>6</Issue><PubDate><Year>2011</Year><Month>Dec</Month></PubDate></JournalIssue><Title>Journal of inherited metabolic disease</Title><ISOAbbreviation>J. Inherit. Metab. Dis.</ISOAbbreviation></Journal><ArticleTitle>Alkaptonuria in France: past experience and lessons for the future.</ArticleTitle><Pagination><MedlinePgn>1115-26</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1007/s10545-011-9392-7</ELocationID><Abstract><AbstractText>Alkaptonuria (AKU) is an autosomal recessive disorder due to homogentisate 1,2-dioxygenase (HGD) deficiency in the liver and characterized by a triad of signs, according to chronology of appearance: homogentisic aciduria (HGA) or alkaptonuria, ochronosis then ochronotic arthropathy. This inborn error of metabolism is caused by mutations in the HGD gene. In this work we report observations of 96 AKU French patients from 81 families collected in the literature since 1882 and from our personal contribution since 1986, giving an incidence of the disease of around 1:680,000 (96/64.10(6)). As expected for an autosomal recessive disorder the main findings of this study were: a slight predominance of males (51/93, 54,8%) over females (42/93, 45,2%), a strong predominance of sibships with one affected individual (68/81, 84,0%) over sibships with two (11/81, 13.6%) and three(2/81, 2.4%) affected individuals. AKU families are scaterred among the French territory suggesting that most cases occured in non-consanguineous unions. Consanguinity was only found in five families. Other peculiarities of this study were (a) ten of these families have both parents from a foreign geographical origin: Poland(3), Italy(3), Portugal(2), Ukraine(1) and India(1) and four families with only one foreign parent (Algeria, Armenia, Serbia, UK), (b) HGD mutations were found in 23 families, (c) four of theses 96 patients were seen by us respectively 28, 29, 39 and 45 years after their report in the literature and (d) seven patients present cardiac and/or renal complications.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Aquaron</LastName><ForeName>Robert Raphael</ForeName><Initials>RR</Initials><AffiliationInfo><Affiliation>Laboratoire de biochimie et biologie moléculaire, Aix-Marseille Université, Campus Santé Timone, 27 Boulevard Jean Moulin, 13385, Marseille, cedex5, France. robert.aquaron@univmed.fr</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2011</Year><Month>09</Month><Day>17</Day></ArticleDate></Article><MedlineJournalInfo><Country>Netherlands</Country><MedlineTA>J Inherit Metab Dis</MedlineTA><NlmUniqueID>7910918</NlmUniqueID><ISSNLinking>0141-8955</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000368" MajorTopicYN="N">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000474" MajorTopicYN="N">Alkaptonuria</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName><QualifierName UI="Q000453" MajorTopicYN="Y">epidemiology</QualifierName><QualifierName UI="Q000628" MajorTopicYN="N">therapy</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D015984" MajorTopicYN="N">Causality</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015897" MajorTopicYN="N">Comorbidity</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D003241" MajorTopicYN="N">Consanguinity</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004641" MajorTopicYN="N">Emigration and Immigration</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005602" MajorTopicYN="N" Type="Geographic">France</DescriptorName><QualifierName UI="Q000453" MajorTopicYN="N">epidemiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006331" MajorTopicYN="N">Heart Diseases</DescriptorName><QualifierName UI="Q000453" MajorTopicYN="N">epidemiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015994" MajorTopicYN="N">Incidence</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007223" MajorTopicYN="N">Infant</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007231" MajorTopicYN="N">Infant, Newborn</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007592" MajorTopicYN="N">Joint Diseases</DescriptorName><QualifierName UI="Q000453" MajorTopicYN="N">epidemiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D007674" MajorTopicYN="N">Kidney Diseases</DescriptorName><QualifierName UI="Q000453" MajorTopicYN="N">epidemiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009794" MajorTopicYN="N">Ochronosis</DescriptorName><QualifierName UI="Q000453" MajorTopicYN="N">epidemiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName><QualifierName UI="Q000453" MajorTopicYN="N">epidemiology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D017678" MajorTopicYN="N">Sex Distribution</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2011</Year><Month>04</Month><Day>07</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2011</Year><Month>08</Month><Day>29</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2011</Year><Month>08</Month><Day>25</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2011</Year><Month>9</Month><Day>20</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2011</Year><Month>9</Month><Day>20</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2012</Year><Month>3</Month><Day>28</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">21927854</ArticleId><ArticleId IdType="doi">10.1007/s10545-011-9392-7</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonFranceV1/Data/PubMed/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000925 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd -nk 000925 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= ParkinsonFranceV1
|flux= PubMed
|étape= Corpus
|type= RBID
|clé= pubmed:21927854
|texte= Alkaptonuria in France: past experience and lessons for the future.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Corpus/RBID.i -Sk "pubmed:21927854" \
| HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Corpus/biblio.hfd \
| NlmPubMed2Wicri -a ParkinsonFranceV1
| This area was generated with Dilib version V0.6.29. |  |