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Article

Late diagnosis of Fabry disease caused by a de novo mutation in a patient with end stage renal disease.

BMC research notes - 24 Nov 2015

Pisani Antonio, Daniele Aurora, Di Domenico Carmela, Nigro Ersilia, Salvatore Francesco, Riccio Eleonora

Abstract excerpt

BACKGROUND: We present the case of a white 35-year-old male with a diagnosis of Fabry disease and negative family history. CASE PRESENTATION: At the age of 31, he underwent a renal biopsy with a diagnosis of hypertension-induced nephroangiosclerosis. At the age of 35, he was referred to our hospital and started dialysis: the unusual finding of left ventricular hypertrophy with a normal ejection fraction and of...

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Identifiers

PMID: 26602202
DOI: 10.1186/s13104-015-1696-5
PMCID: PMC4658750

Genes

GLA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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