Arthrogryposis, renal dysfunction and cholestasis syndrome: Report of five patients from three Italian families
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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 arthrogryposis Parenchymal giant cell transformation Pigmentary liver disease Ductopenia Renal tubulopathy
arthrogryposis, renal dysfunction and cholestasis
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- 3.Kitamura T, Alroy J, Gatmaitan Z, Inoue M, Mikami T, Jansen P, Arias IM (1992) Defective biliary excretion of epinephrine metabolites in mutant (TR-) rats: relation to the pathogenesis of black liver in the Dubin-Johnson syndrome and in Corriedale sheep with an analogous excretory defect. Hepatology 15:1154–1159PubMedGoogle Scholar
- 4.Lutz-Richner AR, Landolt RF (1973) Familiare Gallengangsmissbildungen mit tubularer Niereninsuffizienz. Helv Paediatr Acta 28:1–2Google Scholar