Inherited metabolic renal disorders in children

• Autores: Joanna Clothier, Sally Anne Hulton
• Localización: Medicine, ISSN-e 1357-3039, Vol. 43, Nº. 7, 2016, págs. 407-410
• Idioma: inglés
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• Resumen

  • Inherited metabolic conditions of the kidney are uncommon but require consideration as diagnostic clarity informs specific treatment which improves outcomes considerably and allows children with life limiting disorders to experience greater longevity. This article focuses on four conditions, cystinosis, methylmalonic aciduria (MMA), primary hyperoxaluria and Fabry's disease. These conditions often present with renal impairment, predominantly in childhood, but with appropriate treatments survival well into adult life is becoming more common. Recognition of the genetic mutations, phenotypic variability and specific treatment options can improve long term prognosis.