Advertisement

European Journal of Pediatrics

, Volume 154, Issue 10, pp 835–839 | Cite as

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
Medical Genetics Original Paper

Abstract

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.

Conclusion

We propose to consider the picture of arthrogryposis, renal tubular dysfunction and cholestasis as a single syndrome.

Key words

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

Abbreviation

ARC

arthrogryposis, renal dysfunction and cholestasis

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Di Rocco M, Reboa E, Barabino A, Larnaout A, Canepa M, Savioli C, Cremonte M, Borrone C (1990) Arthrogryposis, cholestatic pigmentary liver disease and renal dysfunction: report of a second family. Am J Med Genet 37:237–240CrossRefPubMedGoogle Scholar
  2. 2.
    Horslen SP, Charnell OWJ, Tanner MS (1994) Liver histology in the arthogryposis multiplex congenita, renal dysfunction and cholestasis (ARC) syndrome: report on three new cases and review. J Med Genet 31:62–64PubMedGoogle Scholar
  3. 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. 4.
    Lutz-Richner AR, Landolt RF (1973) Familiare Gallengangsmissbildungen mit tubularer Niereninsuffizienz. Helv Paediatr Acta 28:1–2Google Scholar
  5. 5.
    Maggiore G, Bernard O, Hadchonel M, Lemmanier A, Alagille D (1991) Diagnostic value of Serum glutamyl-Gentamyl traspeptidase activity in liver diseases in children. J Pediatr Gastroenterol Nutr 12:21–26PubMedGoogle Scholar
  6. 6.
    Mikati MA, Barakat AY, Sulh HB, Der Kaloustian VM (1984) Renal tubular insufficiency, cholestatic jaundice and multiple congenital anomalies, a new multisystem syndrome. Helv Paediatr Acta 39:463–471PubMedGoogle Scholar
  7. 7.
    Nezelof C, Dupart MC, Jaubert F, Eliachar E (1979) A lethal familial syndrome associating arthrogryposis multiplex congenita, renal dysfunction and a cholestatic and pigmentary liver disease. J Pediatr 94:258–260PubMedGoogle Scholar
  8. 8.
    Saraiva JM, Lemos C, Goncalves I, Carneiro F, Mota HC (1990) Arthrogryposis multiplex congenita with renal and hepatic abnormalities in a female infant. J Pediatr 117:761–763PubMedGoogle Scholar

Copyright information

© Springer-Verlag 1995

Authors and Affiliations

  • M. Di Rocco
    • 1
  • F. Callea
    • 2
  • B. Pollice
    • 3
  • M. Faraci
    • 1
  • F. Campiani
    • 4
  • C. Borrone
    • 1
  1. 1.Divisione Pediatria IIIstituto “G. Gaslini”GenovaItaly
  2. 2.Servizio Anatomia Patologica Ospedali RiunitiBresciaItaly
  3. 3.I Anatomia PatologicaPoliclinico BariItaly
  4. 4.Patologia Neonatale Policlinico “S. Matteo”PaviaItaly

Personalised recommendations