Renal manifestations of metabolic disorders in children

Francesco Emma, William G. vant Hoff, Carlo Dionisi Vici

Research output: Chapter in Book/Report/Conference proceedingChapter


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.

Original languageEnglish
Title of host publicationPediatric Nephrology, Seventh Edition
PublisherSpringer Berlin Heidelberg
Number of pages39
ISBN (Print)9783662435960, 9783662435953
Publication statusPublished - Jan 1 2015

ASJC Scopus subject areas

  • Medicine(all)


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