Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1.

doi:10.1053/j.ajkd.2018.03.019

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Article

Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Sept 2018

Ayasreh Nadia, Bullich Gemma, Miquel Rosa, Furlano Mónica, Ruiz Patricia, Lorente Laura, Valero Oliver, García-González Miguel Angel, Arhda Nisrine, Garin Intza, Martínez Víctor, Pérez-Gómez Vanessa, Fulladosa Xavier, Arroyo David, Martínez-Vea Alberto, Espinosa Mario, Ballarín Jose, Ars Elisabet, Torra Roser

Abstract excerpt

RATIONALE & OBJECTIVE: Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare underdiagnosed cause of end-stage renal disease (ESRD). ADTKD is caused by mutations in at least 4 different genes: MUC1, UMOD, HNF1B, and REN. STUDY DESIGN: Retrospective cohort study. SETTING & PARTICIPANTS: 56 families (131 affected individuals) with ADTKD referred from different Spanish hospitals. Clinical,...

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Identifiers

PMID: 29784615
DOI: 10.1053/j.ajkd.2018.03.019

Genes

MUC1
UMOD
REN

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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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