TY - CHAP M1 - Book, Section TI - Fabry Disease A1 - Desnick, Robert J. A2 - Lerma, Edgar V. A2 - Rosner, Mitchell H. A2 - Perazella, Mark A. PY - 2017 T2 - CURRENT Diagnosis & Treatment: Nephrology & Hypertension, 2e AB - Essentials of DiagnosisEarly clinical manifestations in classically affected males include angiokeratomas, acroparesthesias, hypohidrosis, and a characteristic bilateral corneal dystrophy. With advancing age, classic and later-onset males develop renal failure, cardiac disease, and strokes.The clinical diagnosis is confirmed in males by markedly deficient leukocyte α-galactosidase A (α-Gal A) activity and/or identification of a pathologic α-galactosidase gene (GLA) mutation.Female heterozygotes from classic and later-onset families may be asymptomatic or as severe as their affected male relatives. They are diagnosed by demonstration of the family’s pathologic GLA mutation. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accessmedicine.mhmedical.com/content.aspx?aid=1149116123 ER -