Arthrogryposis, renal dysfunction and cholestasis syndrome: Report of five patients from three Italian families
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- Di Rocco, M., Callea, F., Pollice, B. et al. Eur J Pediatr (1995) 154: 835. doi:10.1007/BF01959793
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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.
We propose to consider the picture of arthrogryposis, renal tubular dysfunction and cholestasis as a single syndrome.
Key wordsNeurogenic arthrogryposisParenchymal giant cell transformationPigmentary liver diseaseDuctopeniaRenal tubulopathy
arthrogryposis, renal dysfunction and cholestasis