BACKGROUND The pathophysiology of Fabry disease(FD)-induced progressive vital organ damage is irreversible.Disease progression can be delayed using enzyme replacement therapy(ERT).In patients with classic FD,sporadic ...BACKGROUND The pathophysiology of Fabry disease(FD)-induced progressive vital organ damage is irreversible.Disease 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 ERT.The current consensus is that ERT initiation during early childhood is paramount.Nonetheless,complete recovery of organs in patients with advanced FD is challenging.CASE SUMMARY Two related male patients,an uncle(patient 1)and nephew(patient 2),presented with classic FD.Both patients were treated by us.Patient 1 was in his 50s,and ERT was initiated following end-organ damage;this was subsequently ineffective.He developed cerebral infarction and died of sudden cardiac arrest.Patient 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 apparent.Although 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 ERT.CONCLUSION We obtained discouraging ERT outcomes for older patients but encouraging outcomes for younger adults with classic FD.展开更多
目的 研究新型的降压药物——血管紧张素受体拮抗剂氯沙坦治疗高血压病左室肥厚的临床疗效.方法21例高血压病左室肥厚患者给予氯沙坦口服20wk.治疗前后行24h动态血压监测和心脏超声检查.结果 24 h SBP、24 h DBP、dSBP、dDBP、nSBP、nDB...目的 研究新型的降压药物——血管紧张素受体拮抗剂氯沙坦治疗高血压病左室肥厚的临床疗效.方法21例高血压病左室肥厚患者给予氯沙坦口服20wk.治疗前后行24h动态血压监测和心脏超声检查.结果 24 h SBP、24 h DBP、dSBP、dDBP、nSBP、nDBP由治疗前(151±15)、(93±9)、(155±15)、(96±10)、(146±16)、(88±11)mmHg分别降至(132±11)、(82±8)、(137±12)、(88±9)、(120±15)、(74±9)mmHg;IVST、PWT、LV-MI由治疗前(14.2±1.5)mm、(13.9±1.45)mm、(152.1±24.2)g·m^(2-1)分别降至(12.1±1.31)mm、(12.2±1.41)mm、(130.6±23.1)g·m^(2-1),以上参数用药后均较用药前有显著下降(P＜0.0l).结论 氯沙坦能够明显降低高血压病左室肥厚患者24 h 血压,并能使其左室肥厚明显消退.展开更多
基金Supported by the Red Cross Hospital Research and Training Fund,Fukushima R.C.Hosp.No.57.
文摘BACKGROUND The pathophysiology of Fabry disease(FD)-induced progressive vital organ damage is irreversible.Disease 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 ERT.The current consensus is that ERT initiation during early childhood is paramount.Nonetheless,complete recovery of organs in patients with advanced FD is challenging.CASE SUMMARY Two related male patients,an uncle(patient 1)and nephew(patient 2),presented with classic FD.Both patients were treated by us.Patient 1 was in his 50s,and ERT was initiated following end-organ damage;this was subsequently ineffective.He developed cerebral infarction and died of sudden cardiac arrest.Patient 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 apparent.Although 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 ERT.CONCLUSION We obtained discouraging ERT outcomes for older patients but encouraging outcomes for younger adults with classic FD.
文摘目的 研究新型的降压药物——血管紧张素受体拮抗剂氯沙坦治疗高血压病左室肥厚的临床疗效.方法21例高血压病左室肥厚患者给予氯沙坦口服20wk.治疗前后行24h动态血压监测和心脏超声检查.结果 24 h SBP、24 h DBP、dSBP、dDBP、nSBP、nDBP由治疗前(151±15)、(93±9)、(155±15)、(96±10)、(146±16)、(88±11)mmHg分别降至(132±11)、(82±8)、(137±12)、(88±9)、(120±15)、(74±9)mmHg;IVST、PWT、LV-MI由治疗前(14.2±1.5)mm、(13.9±1.45)mm、(152.1±24.2)g·m^(2-1)分别降至(12.1±1.31)mm、(12.2±1.41)mm、(130.6±23.1)g·m^(2-1),以上参数用药后均较用药前有显著下降(P＜0.0l).结论 氯沙坦能够明显降低高血压病左室肥厚患者24 h 血压,并能使其左室肥厚明显消退.
