F. Toutain

Gouty tendinitis revealing glycogen storage disease Type Ia in two adolescents

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.

Asthme du nourrisson et du jeune enfant

Many studies have been dedicated to the prevention of infant and childhood asthma in recent years. Primary prevention begins during intra uterine life (maternal smoke, diet, allergen exposure). During the first year of life, prolonged breastfeeding has been found to be a protective factor against the development of allergy and asthma. The role of infections and lifestyle is controversial and it is not clear whether these factors reduce or increase the risk of asthma. Environmental measures such as avoidance of tobacco smoke and reducing allergens exposure must be recommended to infants with high risk of asthma.

Tendinite goutteuse révélatrice d’une observation de glycogénose type1a de l’adolescent

Resume Introduction. – L’hyperuricemie est une consequence biologique connue du deficit en Glucose 6 phosphatase (G6Pase). Une crise de goutte revelatrice d’une glycogenose de type1a a rarement ete rapportee. Observations. – Un adolescent de 17 ans presente une crise de goutte au niveau du tendon d’Achille droit. Le bilan biologique (hyperuricemie, hyperlactacidemie, acidose chronique, hypercholesterolemie) suggere le diagnostic de glycogenose type1a qui est confirme par dosage enzymatique hepatique. Une enquete genetique permet de retrouver une mutation non decrite, le propositus et sa sœur sont heterozygotes composites R83C/M5R. Conclusion. – Une crise de goutte chez un adolescent presentant une hepatomegalie et des troubles biologiques (hyperlactacidemie, hypercholesterolemie) doit faire penser a la possibilite d’une glycogenose. La decouverte, par biologie moleculaire, d’une mutation dans chacun des 2 genes de la G6Pase suffit a porter le diagnostic de glycogenose de type 1a et permet d’eviter une biopsie hepatique.