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Enzyme replacement therapy in two patients with classic Fabry disease from the same family tree:Two case reports

World Journal of Clinical Cases 2023年第15期11卷 3542-3551页

作者： Yuki Harigane Issei Morimoto O Suzuki Jumpei Temmoku Takayuki Sakamoto kohichiro nakamura Kazuo Machii Masayuki Miyata Department of Urology Fukushima Medical UniversityFukushima 960-1295Japan Otsuki Sleep Clinic Fukushima 960-8044Japan Department of Diagnostic Pathology Fukushima Medical UniversityFukushima 960-1295Japan Center of Internal Medicine for Rheumatology and Collagen Disease Fukushima Red Cross HospitalFukushima 960-8530Japan Department of Cardiology Fukushima Red Cross HospitalFukushima 960-8530Japan Department of Neurology Fukushima Red Cross HospitalFukushima 960-8530Japan Machii Cardiology and Internal Medicine Clinic Fukushima 960-8530Japan

BACKGROUND The pathophysiology of Fabry disease(FD)-induced progressive vital organ damage is *** progression can be delayed using enzyme replacement therapy(ERT).In patients with classic FD,sporadic accumulation of globotriaosylceramide(GL-3)in the heart and kidney begins in utero;however,until childhood,GL-3 accumulation is mild and reversible and can be restored by *** current consensus is that ERT initiation during early childhood is ***,complete recovery of organs in patients with advanced FD is *** SUMMARY Two related male patients,an uncle(patient 1)and nephew(patient 2),presented with classic *** patients were treated by *** 1 was in his 50s,and ERT was initiated following end-organ damage;this was subsequently *** developed cerebral infarction and died of sudden cardiac *** 2 was in his mid-30s,and ERT was initiated when the patient was diagnosed with FD,during which the damage to vital organs was not overtly *** he had left ventricular hypertrophy at the beginning of this treatment,the degree of hypertrophy progression was limited to a minimal range after>18 years of *** We obtained discouraging ERT outcomes for older patients but encouraging outcomes for younger adults with classic FD.

关键词： Enzyme replacement therapy Fabry disease Pedigree Left ventricular hypertrophy α-galactosidase Case report

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