Fabry disease (FD) is an X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase A enzyme, which leads to the accumulation of its substrate, the globotriaosylceramide or Gb3, in many organs and tissues. Main clinical manifestations of FD are neuropathic pain, angiokeratomas, proteinuria and renal failure, left ventricular hypertrophy and stroke. Fever is also a possible symptom at the onset of the disease during childhood and adolescence, but it is frequently misdiagnosed, causing a delay in FD diagnosis.
The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis / Verrecchia, Elena; Zampetti, Anna; Antuzzi, Daniela; Ricci, ROBERTA CAROLINA; Ferri, Lorenzo; Morrone, Amelia; Feliciani, Claudio; Dagna, Lorenzo; Manna, Raffaele. - In: EUROPEAN JOURNAL OF INTERNAL MEDICINE. - ISSN 0953-6205. - 32:(2016), pp. 26-30-30. [10.1016/j.ejim.2016.03.015]
The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis
RICCI, ROBERTA CAROLINA;FELICIANI, Claudio;
2016-01-01
Abstract
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase A enzyme, which leads to the accumulation of its substrate, the globotriaosylceramide or Gb3, in many organs and tissues. Main clinical manifestations of FD are neuropathic pain, angiokeratomas, proteinuria and renal failure, left ventricular hypertrophy and stroke. Fever is also a possible symptom at the onset of the disease during childhood and adolescence, but it is frequently misdiagnosed, causing a delay in FD diagnosis.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
