Juvenile nephronophthisis associated with new skeletal abnormalities, tapetoretinal degeneration and liver fibrosis.
This report concerns a boy presenting renal disease with tubulointerstitial nephropathy which suggests familial juvenile nephronophthisis, hepatosplenomegaly due to congenital hepatic fibrosis, tapetoretinal degeneration, probable endocrine involvement and congenital skeletal abnormalities. The associations presented in this paper have not previously been reported.
Bianchi
C
C
Scientific Institute H. San Raffaele, Pediatric Department, University of Milan, Italy.
Barera
G
G
Picciotti
M
M
Barbiano di Belgioioso
G
G
Bellini
F
F
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D006801:Humans; D008103:Liver Cirrhosis / Q000235:genetics*; D008297:Male; D009395:Nephritis, Interstitial / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000235:genetics*; D012162:Retinal Degeneration / Q000235:genetics*