title: Juvenile nephronophthisis associated with new skeletal abnormalities, tapetoretinal degeneration and liver fibrosis.
abstract: 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.
authors.affiliation: Scientific Institute H. San Raffaele, Pediatric Department, University of Milan, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Bianchi
authors.forename: G
authors.initials: G
authors.lastname: Barera
authors.forename: M
authors.initials: M
authors.lastname: Picciotti
authors.forename: G
authors.initials: G
authors.lastname: Barbiano di Belgioioso
authors.forename: F
authors.initials: F
authors.lastname: Bellini
mesh_terms: 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*