Arthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients from three Italian families.
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.
Divisione Pediatria II, Istituto G. Gaslini, Genova, Italy.
M
M
Di Rocco
F
F
Callea
B
B
Pollice
M
M
Faraci
F
F
Campiani
C
C
Borrone
D000141:Acidosis, Renal Tubular / Q000235:genetics* / Q000473:pathology; D001176:Arthrogryposis / Q000235:genetics* / Q000473:pathology; D001707:Biopsy, Needle; D002780:Cholestasis, Intrahepatic / Q000235:genetics* / Q000473:pathology; D003241:Consanguinity; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology; D007223:Infant; D007231:Infant, Newborn; D007684:Kidney Tubules / Q000473:pathology; D008062:Lipofuscin / Q000378:metabolism; D008099:Liver / Q000473:pathology; D008297:Male; D011169:Portal Vein / Q000002:abnormalities / Q000473:pathology
D008062:Lipofuscin