Natural History of Fabry Renal Disease

Mary H. Branton; Raphael Schiffmann; Sharda G. Sabnis; Gary J. Murray; Jane M. Quirk; Gheona Altarescu; Lev G. Goldfarb; Roscoe O. Brady; James E. Balow; Howard A. Austin; Jeffrey B. Kopp

doi:10.1097/00005792-200203000-00003

March 1, 2002Medicine

Natural History of Fabry Renal Disease

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Key Points

To define the natural clinical course, renal histology, and genotype-phenotype correlations of nephropathy in male patients with Fabry disease.
Retrospectively reviewed clinical records, renal biopsies, and laboratory profiles of 105 hemizygous male Fabry patients evaluated at the NIH between 1970 and 2000.
Quantified leukocyte α-galactosidase A (α-gal A) activity, tissue globotriaosylceramide (Gb3) content, histological damage scores, and α-gal A gene sequencing.
Fifty percent of patients developed proteinuria by age 35 years and chronic renal insufficiency by age 42 years, progressing steadily toward end-stage renal disease.
Detectable residual α-gal A activity was associated with delayed onset of chronic renal insufficiency, lower renal Gb3 deposition, and reduced renal histological damage scores.
Conservative missense mutations in the α-gal A gene correlated with higher residual enzyme activity and slower progression of nephropathy compared with severe mutations.

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Implication

Retrospective cohort study reveals residual enzyme activity slows nephropathy progression in Fabry disease males, indicating that modest enzyme preservation protects kidney function.

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Branton et al. (2002) studied this question.

synapsesocial.com/papers/6a1088ef42b7486443ff133b https://doi.org/10.1097/00005792-200203000-00003

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Natural History of Fabry Renal Disease

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Natural History of Fabry Renal Disease

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