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Article

Clinical and molecular heterogeneity of juvenile nephronophthisis in Italy: insights from molecular screening.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Jan 2000

Caridi G, Dagnino M, Gusmano R, Ginevri F, Murer L, Ghio L, Piaggio G, Ciardi M R, Perfumo F, Ghiggeri G M

Abstract excerpt

Autosomal recessive nephronophthisis (NPH) is a renal disorder histologically characterized by tubulointerstitial lesions that are, in some cases, associated with extrarenal manifestations such as tapeto-retinal degeneration or liver fibrosis. The disease is usually pauci-symptomatic in an early phase but invariably evolves to end-stage renal failure in childhood or early adulthood. The recent discovery of the...

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Share to Chromosome Disorders
Share to Chromosomes, Human, Pair 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytoskeletal Proteins

Share to Genes, Recessive

Share to Genetic Carrier Screening

Share to Kidney Failure, Chronic

Share to Nephritis, Interstitial

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Source

Identifiers

PMID: 10620543
DOI: 10.1016/S0272-6386(00)70300-3

Genes

NPHP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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