奈梅亨断裂综合征 (NBS) 是一种常染色体隐性遗传疾病，其特征为小头畸形、免疫缺陷和 DNA 修复受损。 NBS 在包括乌克兰在内的斯拉夫人群中最为流行。我们的研究旨在全面评估乌克兰NBS患者的患病率、诊断、临床数据、免疫学参数和治疗。我们对1999年至2023年诊断的来自乌克兰不同地区的84名NBS患者进行了回顾性研究。使用来自乌克兰 NBS 登记处的数据和使用开发的问卷获得的治疗医生的信息进行分析。在 84 名 NBS 患者中，55 名 (65.5%) 活着，25 名 (29.8%) 死亡，4 名失访-向上。患者的中位年龄为11岁，范围为1岁至34岁。大多数患者来自乌克兰西部地区（57.8%），尽管近年来来自中部和东南部地区的诊断有所增加，扩大了我们对 NBS 患病率的了解。年均确诊患者数为3.4例，近年来从2.7例增加到4.8例。 1999-2007年NBS诊断的中位年龄为4.0岁（范围0.1-16岁），近6年下降至2.7岁。大多数十岁以下的儿童都观察到身体发育迟缓。所有儿童均出现过感染，其中41.3%的儿童出现反复感染。 12% 的死亡原因是严重感染。 NBS 第二常见的临床表现是恶性肿瘤（37.5%），其中淋巴瘤的患病率（63.3%）。恶性肿瘤是 NBS 患者最常见的死亡原因（占病例的 72%）。 89.6% 的人观察到 CD4 和 CD19 水平下降，其次是 CD3 (81.8%) 和 CD8 (62.5%) 水平下降。 NK细胞水平升高至62.5%。 IgG 浓度下降了 72.9%，IgA 浓度下降了 56.3%。 58.7% 的患者接受了免疫球蛋白替代治疗。定期免疫球蛋白替代疗法有助于降低严重呼吸道感染的频率和严重程度。诊断的改进，包括产前筛查、新生儿筛查、监测和扩大治疗选择，将为 NBS 患者带来更好的结果。版权所有 © 2024 Boyarchuk, Kostyuchenko 、阿科皮扬、邦达连科、沃洛卡、希尔法诺娃、萨夫恰克、纳扎连科、亚雷马、乌尔巴斯、赫拉博夫斯卡、利西西亚、布津、蒂霍拉兹、伊万丘克、巴斯塔诺瓦、帕茨昆、瓦西连科、斯捷潘诺夫斯基、切尔尼绍娃和马库赫。

Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder, characterized by microcephaly, immunodeficiency, and impaired DNA repair. NBS is most prevalent among Slavic populations, including Ukraine. Our study aimed to comprehensively assess the prevalence, diagnosis, clinical data, immunological parameters, and treatment of NBS patients in Ukraine.We conducted a retrospective review that included 84 NBS patients from different regions of Ukraine who were diagnosed in 1999-2023. Data from the Ukrainian Registry of NBS and information from treating physicians, obtained using a developed questionnaire, were utilized for analysis.Among 84 NBS patients, 55 (65.5%) were alive, 25 (29.8%) deceased, and 4 were lost to follow-up. The median age of patients was 11 years, ranging from 1 to 34 years. Most patients originate from western regions of Ukraine (57.8%), although in recent years, there has been an increase in diagnoses from central and southeastern regions, expanding our knowledge of NBS prevalence. The number of diagnosed patients per year averaged 3.4 and increased from 2.7 to 4.8 in recent years. The median age of NBS diagnosis was 4.0 years (range 0.1-16) in 1999-2007 and decreased to 2.7 in the past 6 years. Delayed physical development was observed in the majority of children up to the age of ten years. All children experienced infections, and 41.3% of them had recurrent infections. Severe infections were the cause of death in 12%. The second most common clinical manifestation of NBS was malignancies (37.5%), with the prevalence of lymphomas (63.3%). Malignancies have been the most common cause of death in NBS patients (72% of cases). Decreased levels of CD4+ and CD19+ were observed in 89.6%, followed by a reduction of CD3+ (81.8%) and CD8+ (62.5%). The level of NK cells was elevated at 62.5%. IgG concentration was decreased in 72.9%, and IgA - in 56.3%. Immunoglobulin replacement therapy was administered to 58.7% of patients. Regular immunoglobulin replacement therapy has helped reduce the frequency and severity of severe respiratory tract infections.Improvements in diagnosis, including prenatal screening, newborn screening, monitoring, and expanding treatment options, will lead to better outcomes for NBS patients.Copyright © 2024 Boyarchuk, Kostyuchenko, Akopyan, Bondarenko, Volokha, Hilfanova, Savchak, Nazarenko, Yarema, Urbas, Hrabovska, Lysytsia, Budzyn, Tykholaz, Ivanchuk, Bastanohova, Patskun, Vasylenko, Stepanovskyy, Chernyshova and Makukh.