Arthrogryposis, renal dysfunction and cholestasis syndrome: Report of five patients from three Italian families

M. Di Rocco, F. Callea, B. Pollice, M. Faraci, F. Campiani, C. Borrone

Research output: Contribution to journalArticle

Abstract

Conclusion: We propose to consider the picture of arthrogryposis, renal tubular dysfunction and cholestasis as a single syndrome. We report on five patients from three families with neurogenic arthrogryposis, cholestasis and tubular renal dysfunction. Despite a similar clinical picture the liver histology showed a broad pathological spectrum, ranging from pigment storage to parenchymal giant cell transformation and ductopenia. The findings are compared with those of other cases from the literature in search of a correct nosology of the syndrome characterized by arthrogryposis, renal and liver disease.

Original languageEnglish
Pages (from-to)835-839
Number of pages5
JournalEuropean Journal of Pediatrics
Volume154
Issue number10
DOIs
Publication statusPublished - Oct 1995

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Keywords

  • Ductopenia
  • Neurogenic arthrogryposis
  • Parenchymal giant cell transformation
  • Pigmentary liver disease
  • Renal tubulopathy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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