Early Renal Involvement in a Girl with Classic Fabry Disease

Overview

Journal Case Rep Nephrol

Publisher Wiley

Specialty Nephrology

Date 2017 Nov 4

PMID 29098097

Citations 6

Authors

Fernando Perretta

Norberto Antongiovanni

Sebastian Jaurretche

Affiliations

Soon will be listed here.

Abstract

Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the enzyme alpha galactosidase A; this defect leads to the systemic accumulation of globotriaosylceramide and its metabolites. Organic involvement in men is well known, but in women it is controversial, mainly due to the random X-chromosome inactivation in each of their cells (Lyon hypothesis). This would explain why women (heterozygotes) present a wide variability in the severity of their phenotype. The manifestations are multisystemic and begin in early childhood, reaching a severe compromise in adulthood. Typical acroparesthesia in hands and feet, gastrointestinal symptoms, angiokeratomas, dyshidrosis, hearing loss, arrhythmias, hypertrophic cardiomyopathy, cerebrovascular accidents, and renal failure can be observed. Nephropathy is one of the major complications of Fabry disease. Glomerular and vascular changes are present before progression to overt proteinuria and decreased glomerular filtration rate, even in pediatric patients. A case of incipient renal involvement in a girl with classic Fabry disease is reported.

Citing Articles

Biomarkers for Monitoring Renal Damage Due to Fabry Disease in Patients Treated with Migalastat: A Review for Nephrologists.

Jaurretche S, Conde H, Gonzalez Schain A, Ruiz F, Sgro M, Venera G Genes (Basel). 2022; 13(10).

PMID: 36292636 PMC: 9601519. DOI: 10.3390/genes13101751.

Early renal failure in childhood in a male with Fabry disease.

Hogh J, Ebrahim H, Moochhala S, Ramaswami U BMJ Case Rep. 2022; 15(5).

PMID: 35537774 PMC: 9092140. DOI: 10.1136/bcr-2021-246682.

Reduced α-galactosidase A activity in zebrafish ( mirrors distinct features of Fabry nephropathy phenotype.

Elsaid H, Furriol J, Blomqvist M, Diswall M, Leh S, Gharbi N Mol Genet Metab Rep. 2022; 31:100851.

PMID: 35242583 PMC: 8857658. DOI: 10.1016/j.ymgmr.2022.100851.

Direct Correlation between Age at Diagnosis and Severity of Nephropathy in Fabry Disease Patients.

Jaurretche S, Antongiovanni N, Perretta F Indian J Nephrol. 2019; 29(6):398-401.

PMID: 31798221 PMC: 6883858. DOI: 10.4103/ijn.IJN_167_18.

Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients.

Kritzer A, Siddharth A, Leestma K, Bodamer O Mol Genet Metab Rep. 2019; 21:100530.

PMID: 31660293 PMC: 6807367. DOI: 10.1016/j.ymgmr.2019.100530.

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