PDF(Pubmed)
Abstract：
BACKGROUND: Fabry disease is a rare, progressive X-linked lysosomal storage disorder. It is caused by mutations in the GLA gene resulting in deficiency of α-galactosidase A (α-Gal A), leading to peripheral neuropathy, cardiovascular disease, stroke, end-stage renal disease, gastrointestinal disorders and premature death. Given the long-term nature of disease progression, trials in Fabry disease are often not powered to capture these clinical events. Clinical measures such as estimated glomerular filtration rate (eGFR) and left ventricular mass index (LVMI) are often captured instead. eGFR and LVMI are believed to be associated with long-term Fabry disease clinical events of interest, but the precise relationships are unclear.
OBJECTIVE: We aimed to identify published literature exploring the link between eGFR/LVMI and long-term clinical events in Fabry disease.
METHODS: A comprehensive literature search was conducted in Embase® and MEDLINE® (using Embase.com), and a targeted literature review was conducted. Studies reporting a quantitative relationship between eGFR and/or LVMI and clinical events in Fabry disease were extracted, and narrative synthesis was conducted to understand these predictive relationships.
RESULTS: Eight studies, consisting of seven patient-level retrospective analyses plus one prospective cohort study, met the inclusion criteria. Seven of these studies reported eGFR and six reported LVMI, with five reporting both. All studies presented results for either a composite measure including a range of key Fabry disease clinical events, or a composite outcome that included at least one key Fabry disease clinical event. All studies employed Cox proportional hazards survival modelling. The studies consistently reported that eGFR and LVMI are predictors of key clinical events in Fabry disease, with the findings remaining consistent regardless of the therapy received by patients in the studies.
CONCLUSIONS: The evidence identified suggests that eGFR and LVMI outcomes may be appropriate indicators for long-term clinical events in Fabry disease, and all identified papers implied the same directional relationship. However, additional research is needed to further understand the specific details of these relationships and to quantify them.
OBJECTIVE: We aimed to identify published literature exploring the link between eGFR/LVMI and long-term clinical events in Fabry disease.
METHODS: A comprehensive literature search was conducted in Embase® and MEDLINE® (using Embase.com), and a targeted literature review was conducted. Studies reporting a quantitative relationship between eGFR and/or LVMI and clinical events in Fabry disease were extracted, and narrative synthesis was conducted to understand these predictive relationships.
RESULTS: Eight studies, consisting of seven patient-level retrospective analyses plus one prospective cohort study, met the inclusion criteria. Seven of these studies reported eGFR and six reported LVMI, with five reporting both. All studies presented results for either a composite measure including a range of key Fabry disease clinical events, or a composite outcome that included at least one key Fabry disease clinical event. All studies employed Cox proportional hazards survival modelling. The studies consistently reported that eGFR and LVMI are predictors of key clinical events in Fabry disease, with the findings remaining consistent regardless of the therapy received by patients in the studies.
CONCLUSIONS: The evidence identified suggests that eGFR and LVMI outcomes may be appropriate indicators for long-term clinical events in Fabry disease, and all identified papers implied the same directional relationship. However, additional research is needed to further understand the specific details of these relationships and to quantify them.
摘要：
背景：法布里病是一种罕见的疾病，进行性X连锁溶酶体贮积症。它是由GLA基因突变引起的，导致α-半乳糖苷酶A（α-GalA）缺乏，导致周围神经病变，心血管疾病,中风,终末期肾病,胃肠道疾病和过早死亡。鉴于疾病进展的长期性，Fabry病的试验通常无法捕获这些临床事件.通常会捕获诸如估计的肾小球滤过率（eGFR）和左心室质量指数（LVMI）之类的临床指标。eGFR和LVMI被认为与长期Fabry病临床事件有关，但是确切的关系尚不清楚。
目的：我们旨在确定已发表的文献，探讨eGFR/LVMI与Fabry病长期临床事件之间的联系。
方法：在Embase®和MEDLINE®（使用Embase.com）中进行了全面的文献检索，并进行了有针对性的文献综述。研究报告了eGFR和/或LVMI与法布里病临床事件之间的定量关系，并进行了叙事综合来理解这些预测关系。
结果：八项研究，由7项患者级回顾性分析和1项前瞻性队列研究组成，符合纳入标准。其中七项研究报告了eGFR，六项研究报告了LVMI，五个人都报告了。所有研究都提供了复合措施的结果，包括一系列关键的法布里病临床事件，或包括至少一个关键法布里病临床事件的复合结局。所有研究均采用Cox比例风险生存模型。研究一致报道eGFR和LVMI是法布里病关键临床事件的预测因子，无论研究中的患者接受何种治疗，研究结果仍然一致。
结论：确定的证据表明，eGFR和LVMI结果可能是法布里病长期临床事件的适当指标，所有确定的论文都暗示了相同的方向关系。然而,需要更多的研究来进一步了解这些关系的具体细节并对其进行量化.
目的：我们旨在确定已发表的文献，探讨eGFR/LVMI与Fabry病长期临床事件之间的联系。
方法：在Embase®和MEDLINE®（使用Embase.com）中进行了全面的文献检索，并进行了有针对性的文献综述。研究报告了eGFR和/或LVMI与法布里病临床事件之间的定量关系，并进行了叙事综合来理解这些预测关系。
结果：八项研究，由7项患者级回顾性分析和1项前瞻性队列研究组成，符合纳入标准。其中七项研究报告了eGFR，六项研究报告了LVMI，五个人都报告了。所有研究都提供了复合措施的结果，包括一系列关键的法布里病临床事件，或包括至少一个关键法布里病临床事件的复合结局。所有研究均采用Cox比例风险生存模型。研究一致报道eGFR和LVMI是法布里病关键临床事件的预测因子，无论研究中的患者接受何种治疗，研究结果仍然一致。
结论：确定的证据表明，eGFR和LVMI结果可能是法布里病长期临床事件的适当指标，所有确定的论文都暗示了相同的方向关系。然而,需要更多的研究来进一步了解这些关系的具体细节并对其进行量化.
