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Gouty tendinitis revealing glycogen storage disease Type Ia in two adolescents.

Identifieur interne : 000338 ( PubMed/Checkpoint ); précédent : 000337; suivant : 000339

Gouty tendinitis revealing glycogen storage disease Type Ia in two adolescents.

Auteurs : Céline Carvès [France] ; Anne Duquenoy ; Fabienne Toutain ; P. Trioche ; Charles Zarnitski ; Pascal Le Roux ; Bernard Le Luyer

Source :

Joint, bone, spine : revue du rhumatisme [ 1297-319X ] ; 2003.

RBID : pubmed:12713862

English descriptors

KwdEn :
- Adolescent, Female, Glycogen Storage Disease Type I (complications), Glycogen Storage Disease Type I (diagnosis), Glycogen Storage Disease Type I (genetics), Gout (complications), Heterozygote, Humans, Male, Mutation, Tendinopathy (etiology).
MESH :
- complications : Glycogen Storage Disease Type I, Gout.
- diagnosis : Glycogen Storage Disease Type I.
- etiology : Tendinopathy.
- genetics : Glycogen Storage Disease Type I.
- Adolescent, Female, Heterozygote, Humans, Male, Mutation.

Abstract

Hyperuricemia is a well-known consequence of glucose-6-phosphatase (G6Pase) deficiency, the enzymatic abnormality that characterizes glycogen storage disease (GSD) Type Ia. However, acute gout as the presenting manifestation of GSD Type Ia has been reported in only a few patients. We report a new case in a 17-year-old male evaluated for acute gouty tendinitis in the right Achilles tendon. Blood tests showed chronic acidosis with high levels of uric acid, lactic acid, and cholesterol. A liver enzyme study confirmed the diagnosis of GSD Type Ia. A genetic study showed that the index patient and his sister were composite heterozygotes for the known mutation R83C and the previously unreported mutation M5R. Acute gout in an adolescent with liver enlargement and high blood levels of uric acid and cholesterol should suggest GSD. Demonstration by molecular biology techniques of a mutation in both alleles of the G6Pase gene establishes the diagnosis of GSD Type Ia, obviating the need for a liver biopsy.

PubMed: 12713862

Affiliations:

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Le document en format XML

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<author><name sortKey="Carves, Celine" sort="Carves, Celine" uniqKey="Carves C" first="Céline" last="Carvès">Céline Carvès</name>
<affiliation wicri:level="1"><nlm:affiliation>Pediatrics department, Groupe Hospitalier du Havre, Le Havre, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
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<author><name sortKey="Duquenoy, Anne" sort="Duquenoy, Anne" uniqKey="Duquenoy A" first="Anne" last="Duquenoy">Anne Duquenoy</name>
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<author><name sortKey="Toutain, Fabienne" sort="Toutain, Fabienne" uniqKey="Toutain F" first="Fabienne" last="Toutain">Fabienne Toutain</name>
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<author><name sortKey="Trioche, P" sort="Trioche, P" uniqKey="Trioche P" first="P" last="Trioche">P. Trioche</name>
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<author><name sortKey="Zarnitski, Charles" sort="Zarnitski, Charles" uniqKey="Zarnitski C" first="Charles" last="Zarnitski">Charles Zarnitski</name>
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<author><name sortKey="Le Roux, Pascal" sort="Le Roux, Pascal" uniqKey="Le Roux P" first="Pascal" last="Le Roux">Pascal Le Roux</name>
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<author><name sortKey="Le Luyer, Bernard" sort="Le Luyer, Bernard" uniqKey="Le Luyer B" first="Bernard" last="Le Luyer">Bernard Le Luyer</name>
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<series><title level="j">Joint, bone, spine : revue du rhumatisme</title>
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<term>Glycogen Storage Disease Type I (diagnosis)</term>
<term>Glycogen Storage Disease Type I (genetics)</term>
<term>Gout (complications)</term>
<term>Heterozygote</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
<term>Tendinopathy (etiology)</term>
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<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Glycogen Storage Disease Type I</term>
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<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Glycogen Storage Disease Type I</term>
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<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Female</term>
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<front><div type="abstract" xml:lang="en">Hyperuricemia is a well-known consequence of glucose-6-phosphatase (G6Pase) deficiency, the enzymatic abnormality that characterizes glycogen storage disease (GSD) Type Ia. However, acute gout as the presenting manifestation of GSD Type Ia has been reported in only a few patients. We report a new case in a 17-year-old male evaluated for acute gouty tendinitis in the right Achilles tendon. Blood tests showed chronic acidosis with high levels of uric acid, lactic acid, and cholesterol. A liver enzyme study confirmed the diagnosis of GSD Type Ia. A genetic study showed that the index patient and his sister were composite heterozygotes for the known mutation R83C and the previously unreported mutation M5R. Acute gout in an adolescent with liver enlargement and high blood levels of uric acid and cholesterol should suggest GSD. Demonstration by molecular biology techniques of a mutation in both alleles of the G6Pase gene establishes the diagnosis of GSD Type Ia, obviating the need for a liver biopsy.</div>
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<Title>Joint, bone, spine : revue du rhumatisme</Title>
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<ArticleTitle>Gouty tendinitis revealing glycogen storage disease Type Ia in two adolescents.</ArticleTitle>
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<Abstract><AbstractText>Hyperuricemia is a well-known consequence of glucose-6-phosphatase (G6Pase) deficiency, the enzymatic abnormality that characterizes glycogen storage disease (GSD) Type Ia. However, acute gout as the presenting manifestation of GSD Type Ia has been reported in only a few patients. We report a new case in a 17-year-old male evaluated for acute gouty tendinitis in the right Achilles tendon. Blood tests showed chronic acidosis with high levels of uric acid, lactic acid, and cholesterol. A liver enzyme study confirmed the diagnosis of GSD Type Ia. A genetic study showed that the index patient and his sister were composite heterozygotes for the known mutation R83C and the previously unreported mutation M5R. Acute gout in an adolescent with liver enlargement and high blood levels of uric acid and cholesterol should suggest GSD. Demonstration by molecular biology techniques of a mutation in both alleles of the G6Pase gene establishes the diagnosis of GSD Type Ia, obviating the need for a liver biopsy.</AbstractText>
</Abstract>
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<name sortKey="Le Roux, Pascal" sort="Le Roux, Pascal" uniqKey="Le Roux P" first="Pascal" last="Le Roux">Pascal Le Roux</name>
<name sortKey="Toutain, Fabienne" sort="Toutain, Fabienne" uniqKey="Toutain F" first="Fabienne" last="Toutain">Fabienne Toutain</name>
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Gouty tendinitis revealing glycogen storage disease Type Ia in two adolescents.

Gouty tendinitis revealing glycogen storage disease Type Ia in two adolescents.

Source :

English descriptors

Abstract

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Pour manipuler ce document sous Unix (Dilib)

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Pour générer des pages wiki