Department of Obstetrics and Gynaecology, Faculty of Health Sciences, University of the Witwatersrand and Charlotte Maxeke Johannesburg Academic Hospital, Johannesburg, South Africa; Medi-Clinic Morningside, Johannesburg, South Africa.
S Afr Med J. 2022 Feb 2;112(1):13518.
Gaucher disease (GD) is a rare inherited autosomal recessive metabolic disorder with a prevalence in the general population of ~1 per 100 000. To optimise the recognition, diagnosis and management of patients with GD in South Africa (SA), it is important to have an understanding of local patterns of presentation of the disease.
To describe the baseline pretreatment characteristics of the SA cohort of patients enrolled into the International Collaborative Gaucher Group (ICGG) Gaucher Registry whowere treated with imiglucerase (Cerezyme; Sanofi Genzyme).
The ICGG Gaucher Registry is an observational, longitudinal, international database that tracks the clinical, demographic, genetic, biochemical and therapeutic characteristics of patients with GD globally, irrespective of disease severity, treatment status or treatment choice. The study population included all SA patients reported in the ICGG Gaucher Registry as of 1 May 2020.
The registry included 49 SA GD patients, of whom 32 received imiglucerase as first primary GD therapy. All the patients had GD type 1, 59.4% were female, and mean and median ages at diagnosis were 14.7 and 9.8 years, respectively. The most common genotype was N370S/N370S (37.5%). At treatment initiation, 30.0% of patients had been splenectomised. Among patients for whom data were available, anaemia was present in one-third of non-splenectomised patients and 12.5% of those with splenectomy, and moderate or severe thrombocytopenia was reported in two-thirds of non-splenectomised patients. Bone pain was present in 30.8% and 57.1% of non- splenectomised and splenectomised patients, respectively. No bone crises were reported, and data relating to other bone complications were available for only ≤3 patients.
Haematological findings and bone pain in this group are similar to those in the global ICGG Gaucher Registry cohort. Lack of baseline data for other bone complications limits interpretation in that regard. Clinicians who treat patients with GD are encouraged to submit accurate, complete and up-to-date information so that comprehensive data for the subset of SA GD patients can be maintained to improve recognition and diagnosis, and guide appropriate and effective use of treatment for SA patients.
戈谢病（Gaucher disease，GD）是一种罕见的常染色体隐性遗传代谢疾病，在普通人群中的患病率约为每 10 万人中有 1 例。为了优化南非（South Africa，SA）患者 GD 的识别、诊断和管理，了解疾病的当地表现模式非常重要。
描述纳入国际戈谢病协作组（International Collaborative Gaucher Group，ICGG）戈谢登记处、接受伊米苷酶（Cerezyme；赛诺菲 Genzyme）治疗的 SA 队列患者的基线预处理特征。
ICGG 戈谢登记处是一个观察性、纵向、国际性数据库，用于跟踪全球 GD 患者的临床、人口统计学、遗传、生化和治疗特征，无论疾病严重程度、治疗状态或治疗选择如何。研究人群包括截至 2020 年 5 月 1 日在 ICGG 戈谢登记处报告的所有 SA 戈谢病患者。
该登记处纳入了 49 例 SA 戈谢病患者，其中 32 例患者接受伊米苷酶作为一线原发性 GD 治疗。所有患者均为 GD 1 型，59.4%为女性，诊断时的平均年龄和中位数分别为 14.7 岁和 9.8 岁。最常见的基因型为 N370S/N370S（37.5%）。在开始治疗时，30.0%的患者已接受脾切除术。对于可提供数据的患者，非脾切除患者中三分之一存在贫血，脾切除患者中 12.5%存在贫血，非脾切除患者中三分之二存在中重度血小板减少症。30.8%的非脾切除患者和 57.1%的脾切除患者存在骨痛。未报告骨危象，仅≤3 例患者有其他骨并发症的数据。
该组患者的血液学发现和骨痛与全球 ICGG 戈谢登记处队列相似。由于缺乏其他骨并发症的基线数据，限制了对此方面的解释。治疗 GD 患者的临床医生应鼓励提交准确、完整和最新的信息，以便为 SA GD 患者亚组维持综合数据，以改善识别和诊断，并指导适当和有效的治疗。
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