Litiasis purínicas infrecuentes: déficit de adenina fosforribosiltransferasa y xantinuria hereditaria

Objectives Hereditary xanthinuria is a rare, autosomal and recessive disorder characterized by severe hypouricemia and increased xanthine excretion, caused by a deficiency of xanthine dehydrogenase/oxidase (XDH/XO, EC: 1.17.1.4/1.17.3.2) in type I, or by a deficiency of XDH/XO and aldehyde oxidase (AOX, EC: 1.2.3.1) in type II. Case presentation We describe a novel point mutation in the XDH gene in homozygosis found in a patient with very low serum and urine levels of uric acid, together with xanthinuria. He was asymptomatic but renal calculi were discovered during imaging. Additional cases were found in his family and dietary recommendations were made in order to prevent further complications. Conclusions Hereditary xanthinuria is an underdiagnosed pathology, often found in a routine analysis that shows hypouricemia. It is important for Laboratory Medicine to acknowledge how to guide clinicians in the diagnosis.

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Identification of a new mutation in the human xanthine dehydrogenase responsible for xanthinuria type I

Abal

Santos

Mao

et al. 2021

Advances in Laboratory Medicine / Avances en Medicina De Laboratorio

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Identificación de una nueva mutación en el gen humano xantina causante de la xantinuria tipo I

Abal

Santos

Mao

et al. 2021

Advances in Laboratory Medicine / Avances en Medicina De Laboratorio

View full text Add to dashboard Cite

Resumen Objetivos La xantinuria es una enfermedad rara, de herencia autosómica recesiva caracterizada por la presencia de hipouricemia y elevada excreción de xantina, provocada por el déficit de xantina deshidrogenasa/oxidasa (XDH/XO, EC: 1.17.1.4/1.17.3.2) en el tipo I, o por el déficit de XDH/XO y aldehído oxidasa (AOX, EC: 1.2.3.1) en el tipo II. Métodos Describimos una nueva mutación puntual en homocigosis en el gen XDH en un paciente con niveles muy bajos de ácido úrico en suero y orina y xantinuria. Aunque el paciente se encontraba asintomático, se objetivaron cálculos renales en las pruebas de imagen. Resultados Se detectaron otros casos en su familia, y se le hicieron recomendaciones dietéticas para prevenir futuras complicaciones. Conclusiones La xantinuria hereditaria es una patología infradiagnosticada, que se suele descubrir accidentalmente al detectar en un análisis rutinario la presencia de hipouricemia. Es importante que la medicina de laboratorio sepa orientar a los facultativos en su diagnóstico.

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Litiasis purínicas infrecuentes: déficit de adenina fosforribosiltransferasa y xantinuria hereditaria

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References 60 publications

Identification of a new mutation in the human xanthine dehydrogenase responsible for xanthinuria type I

Identification of a new mutation in the human xanthine dehydrogenase responsible for xanthinuria type I

Identificación de una nueva mutación en el gen humano xantina causante de la xantinuria tipo I

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