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Article

In-depth phenotyping of a Donnai-Barrow patient helps clarify proximal tubule dysfunction.

Pediatric nephrology (Berlin, Germany) - 1 Jun 2015

Dachy Angélique, Paquot François, Debray Guillaume, Bovy Christophe, Christensen Erik I, Collard Laure, Jouret François

Abstract excerpt

BACKGROUND: The megalin/cubilin/amnionless complex is essential for albumin and low molecular weight (LMW) protein reabsorption by renal proximal tubules (PT). Mutations of the LRP2 gene encoding megalin cause autosomal recessive Donnai-Barrow/facio-oculo-acoustico-renal syndrome (DB/FOAR), which is characterized by LMW proteinuria. The pathophysiology of DB/FOAR-associated PT dysfunction remains unclear....

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Source

Identifiers

PMID: 25822460
DOI: 10.1007/s00467-014-3037-7

Genes

LRP2

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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