Naslov
Angiokeratoma in Fabry Disease : Diagnostic but not Treatment Effectiveness Marker : Case Report

Autori
Roganović, Jelena ; Barišić, Ingeborg ; Jonjić, Nives ; Fumić, Ksenija ; Đorđević, Ana

Izvornik
Global journal of medical and clinical case reports (2455-5282) 2 (2014), 1; 035-036

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, stručni

Ključne riječi
Fabry disease ; Angiokeratoma ; Child

Sažetak
Fabry disease (FD) is a rare metabolic disorder that leads to severe morbidity and premature mortality as a result of cardiac, renal or cerebrovascular complications. Enzyme replacement therapy (ERT) has been shown to provide clinically important benefits, and treatment is likely to alter the natural history of FD. The authors describe a 7-year-old boy with FD. Vascular skin lesions were very helpful in guiding appropriate investigations leading to prompt diagnosis. Because of multisystem involvement, including signs of nephropathy, ERT was started. The boy showed catch-up growth with skeletal maturation, and albuminuria reversed. However, angiokeratomas increased in size and number. The most recognizable early physical sign of FD is angiokeratoma, which can play a critical role in the detection of the disease. However, there is no compelling evidence that angiokeratoma can serve as a surrogate marker for the course of the disease or the efficacy of ERT.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA