ARTHROGRYPOSIS, RENAL DYSFUNCTION AND CHOLESTASIS SYNDROME - REPORT OF 5 PATIENTS FROM 3 ITALIAN FAMILIES

We report on five patients from three families with neurogenic arthrog ryposis, cholestasis and tubular renal dysfunction. Despite a similar clinical picture the liver histology showed a broad pathological spect rum, ranging from pigment storage to parenchymal giant cell transforma tion and ductopenia. The findings are compared with those of other cas es from the literature in search of a correct nosology of the syndrome characterized by arthrogryposis, renal and liver disease. We propose to consider picture of arthrogryposis, renal tubular dysfunction and c holestasis as a single syndrome.