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Síndrome de Lesch-Nyhan - Symptom

Síntomas:

Los niveles excesivos de ácido úrico hacen que los niños desarrollen hinchazón seudogotosa en algunas de las articulaciones. En algunos casos, se desarrollan cálculos renales y vesicales debido a los niveles altos de ácido úrico.

Los hombres con Lesch-Nyhan tienen retraso en el desarrollo motor seguido de movimientos extraños y sinuosos y aumento de los reflejos tendinosos profundos. Un rasgo llamativo del síndrome de Lesch-Nyhan es el comportamiento autodestructivo, caracterizado por morderse las yemas de los dedos y los labios, si no se reprime. Se desconoce la forma cómo la deficiencia de la enzima causa estos problemas.

Signos y exámenes:

Puede haber antecedentes familiares de esta afección.

El médico llevará a cabo un examen físico, el cual puede mostrar:

Los exámenes de sangre y orina pueden revelar niveles altos de ácido úrico. Una biopsia de piel puede mostrar disminución en los niveles de la enzima HGP.

  • Reviewed last on: 4/26/2010
  • Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias

Harris JC. Disorders of purine and pyrimidine metabolism. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 89.

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