An atypical p.N215S variant of Fabry disease with end-stage renal failure

Molecular Genetics and Metabolism Reports
Max SugarmanAna Jovanovic

Abstract

Fabry disease is an X-linked metabolic disorder resulting in widespread deposition of Globotriaosylceramide within a variety of human tissues. The classical Fabry phenotype is one of early onset disease, with extensive tissue involvement resulting in acroparaesthesia, gastrointestinal disturbances, angiokeratoma, cornea verticillata renal failure, and cardiovascular disease. We describe two brothers exhibiting the GLA p.N215S mutation, a variant most often conferring a late-onset disease confined to the myocardium. The proband was diagnosed aged 34, following investigation into proteinuria. Despite Enzyme Replacement Therapy, he progressed to end-stage renal failure, and subsequently received a renal transplant. He also developed hypertrophic cardiomyopathy. His sibling however, whose disease was detected aged 32 following screening, exhibits mild left ventricular hypertrophy, and no evidence of renal disease. He remains clinically asymptomatic. This case report details a discordant phenotype in brothers with Fabry disease and p.N215S mutation. Despite the fact that in the majority of patients this mutation is associated with a late onset presentation with hypertrophic cardiomyopathy, we have clearly demonstrated that patients ...Continue Reading

Citations

Aug 15, 2019·Molecular Genetics & Genomic Medicine·Päivi Pietilä-EffatiIlkka Kantola
Jul 9, 2020·European Journal of Heart Failure·Aleš LinhartPerry Elliott

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Methods Mentioned

BETA
biopsy
light microscopy

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