Ahlmén J, Hultberg B, Brynger H, Sjöblad S, Svalander C
Acta Med Scand. 1982;211(4):309-12. doi: 10.1111/j.0954-6820.1982.tb01952.x.
Three patients with Fabry's disease with a similar clinical picture, including recurrent burning sensations in the extremities, hypohidrosis and slowly progressive renal insufficiency, have been investigated metabolically at different stages of renal impairment. One patient died after three unsuccessful renal transplantations in a 4-year period of intermittent haemodialysis with disabling pains. One successfully transplanted patient is still alive and well, 12 years after the start of therapy. Thermolabile alpha-galactosidase has been demonstrated in his urine. The third patient has slowly progressive renal impairment. No therapeutic enzyme replacement available today is ideal. Early diagnosis is therefore necessary to increase the possibilities of prenatal diagnosis and genetic counseling.
三名患有法布里病的患者临床表现相似，包括四肢反复出现烧灼感、少汗和缓慢进展的肾功能不全，在肾功能损害的不同阶段进行了代谢研究。一名患者在间歇性血液透析4年期间进行了三次肾移植均未成功，最终死于顽固性疼痛。一名成功接受移植的患者在治疗开始12年后仍然健在。在他的尿液中检测到了热不稳定α-半乳糖苷酶。第三名患者肾功能呈缓慢进展。目前可用的治疗性酶替代疗法都不理想。因此，早期诊断对于增加产前诊断和遗传咨询的可能性至关重要。
