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Article

Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.

Human molecular genetics - 15 Dec 2003

Rampoldi Luca, Caridi Gianluca, Santon Daniela, Boaretto Francesca, Bernascone Ilenia, Lamorte Giuseppe, Tardanico Regina, Dagnino Monica, Colussi Giacomo, Scolari Francesco, Ghiggeri Gian Marco, Amoroso Antonio, Casari Giorgio

Abstract excerpt

The disease complex medullary cystic disease/familial juvenile hyperuricemic nephropathy (MCKD/FJHN) is characterized by alteration of urinary concentrating ability, frequent hyperuricemia, tubulo-interstitial fibrosis, cysts at the cortico-medullary junction and renal failure. MCKD/FJHN is cause...

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Source

Identifiers

PMID: 14570709
DOI: 10.1093/hmg/ddg353

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14570709-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.PMID 14570709Read ↗

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