Renal Manifestations of Metabolic Disorders in Children

  • Francesco Emma
  • William G. van’t Hoff
  • Carlo Dionisi Vici
Living reference work entry


While the majority of children with renal dysfunction have a structural, immunological, or infective disorder, some have a metabolic defect arising from an abnormality in the biochemical pathways of cell metabolism. Moreover, improved survival of patients with metabolic disorders has uncovered in many cases symptoms secondary to chronic renal lesions that were not apparent when these diseases where first described (e.g., methylmalonic acidemia). Conversely, extrarenal manifestations have become apparent in other patients with metabolic diseases that during childhood manifest primarily with isolated renal or urological symptoms (e.g., nephropathic cystinosis). Pediatric nephrologists should always remain vigilant to the possibility of a metabolic disorder, especially when children have extrarenal symptoms.


Fabry Disease Hemolytic Uremic Syndrome Glycogen Storage Disease Tubular Dysfunction Fanconi Syndrome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Francesco Emma
    • 1
  • William G. van’t Hoff
    • 2
  • Carlo Dionisi Vici
    • 3
  1. 1.Division of NephrologyBambino Gesù Children’s Hospital – IRCCSRomeItaly
  2. 2.Great Ormond Street HospitalLondonUK
  3. 3.Division of Metabolic Diseases, Bambino Gesù Children’s Hospital – IRCCSRomeItaly

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