Juvenile nephronophthisis associated wtih new skeletal abnormalities, tapetoretinal degeneration and liver fibrosis

C. Bianchi, G. Barera, M. Picciotti, G. Barbiano di Belgioioso, F. Bellini

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)449-455
Number of pages7
JournalHelvetica Paediatrica Acta
Volume43
Issue number5-6
Publication statusPublished - 1988

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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