PDF(Pubmed)
Abstract：
IgA nephropathy (IgAN) is universally recognized as one of the most common primary glomerular diseases in all ages. Cyclic neutropenia (CN) is a rare haematologic disorder that is associated with mutations of the ELANE gene. The co-occurrence of IgAN and CN is extremely rare. This is the first case report of a patient with IgAN and genetically confirmed CN.
We report a case of a 10-year-old boy who presented with recurrent viral upper respiratory tract infections accompanied by several episodes of febrile neutropenia, haematuria, proteinuria and acute kidney injury. Upon first admission, his physical examination was unremarkable. His kidney function was impaired, whereas his urine microscopy showed evidence of macroscopic haematuria and proteinuria. Further workup showed elevated IgA. The renal histology was consistent with mesangial and endocapillary hypercellularity with mild crescentic lesions, while immunofluorescence microscopy showed IgA-positive staining, which was characteristic of IgAN. Moreover, genetic testing confirmed the clinical diagnosis of CN, therefore Granulocyte colony-stimulating factor (G-CSF) was initiated to stabilize the neutrophil count. Regarding proteinuria control, the patient was initially treated with an Angiotensin-converting-enzyme inhibitor for approximately 28 months. However, due to progressive proteinuria (> 1 g/24 h), Corticosteroids (CS) were added for a period of 6 months according to the revised 2021 KDIGO guidelines with favorable outcome.
Patients with CN are more susceptible to recurrent viral infections, which can trigger IgAN attacks. In our case CS induced remarkable proteinuria remission. The use of G-CSF contributed to the resolution of severe neutropenic episodes, viral infections and concomitant AKI episodes, contributing to better prognosis of IgAN. Further studies are mandatory to determine whether there is a genetical predisposition for IgAN in children with CN.
We report a case of a 10-year-old boy who presented with recurrent viral upper respiratory tract infections accompanied by several episodes of febrile neutropenia, haematuria, proteinuria and acute kidney injury. Upon first admission, his physical examination was unremarkable. His kidney function was impaired, whereas his urine microscopy showed evidence of macroscopic haematuria and proteinuria. Further workup showed elevated IgA. The renal histology was consistent with mesangial and endocapillary hypercellularity with mild crescentic lesions, while immunofluorescence microscopy showed IgA-positive staining, which was characteristic of IgAN. Moreover, genetic testing confirmed the clinical diagnosis of CN, therefore Granulocyte colony-stimulating factor (G-CSF) was initiated to stabilize the neutrophil count. Regarding proteinuria control, the patient was initially treated with an Angiotensin-converting-enzyme inhibitor for approximately 28 months. However, due to progressive proteinuria (> 1 g/24 h), Corticosteroids (CS) were added for a period of 6 months according to the revised 2021 KDIGO guidelines with favorable outcome.
Patients with CN are more susceptible to recurrent viral infections, which can trigger IgAN attacks. In our case CS induced remarkable proteinuria remission. The use of G-CSF contributed to the resolution of severe neutropenic episodes, viral infections and concomitant AKI episodes, contributing to better prognosis of IgAN. Further studies are mandatory to determine whether there is a genetical predisposition for IgAN in children with CN.
摘要：
背景：IgA肾病（IgAN）被公认为所有年龄段最常见的原发性肾小球疾病之一。周期性中性粒细胞减少症（CN）是一种罕见的血液系统疾病，与ELANE基因突变有关。IgAN和CN的共现极为罕见。这是IgAN和基因证实的CN患者的首例病例报告。
方法：我们报告了一例10岁男孩，他反复出现病毒性上呼吸道感染并伴有几次发热性中性粒细胞减少症，血尿,蛋白尿和急性肾损伤。第一次入院时，他的身体检查平淡无奇。他的肾功能受损,而他的尿液显微镜检查显示有肉眼可见的血尿和蛋白尿。进一步检查显示IgA升高。肾组织学与肾小球系膜和毛细血管内细胞过多伴轻度新月体病变一致，而免疫荧光显微镜显示IgA阳性染色，这是IgAN的特征。此外，基因检测证实了CN的临床诊断，因此启动粒细胞集落刺激因子(G-CSF)以稳定中性粒细胞计数.关于蛋白尿控制，患者最初接受血管紧张素转换酶抑制剂治疗约28个月.然而,由于进行性蛋白尿（>1克/24小时），根据修订后的2021KDIGO指南，将皮质类固醇（CS）添加6个月，结果良好。
结论：CN患者更易发生复发性病毒感染，会引发IgAN攻击.在我们的病例中，CS引起明显的蛋白尿缓解。G-CSF的使用有助于解决严重的中性粒细胞减少症发作，病毒感染和伴随的AKI发作，有助于IgAN更好的预后。进一步的研究是强制性的，以确定CN患儿是否存在IgAN的遗传易感性。
方法：我们报告了一例10岁男孩，他反复出现病毒性上呼吸道感染并伴有几次发热性中性粒细胞减少症，血尿,蛋白尿和急性肾损伤。第一次入院时，他的身体检查平淡无奇。他的肾功能受损,而他的尿液显微镜检查显示有肉眼可见的血尿和蛋白尿。进一步检查显示IgA升高。肾组织学与肾小球系膜和毛细血管内细胞过多伴轻度新月体病变一致，而免疫荧光显微镜显示IgA阳性染色，这是IgAN的特征。此外，基因检测证实了CN的临床诊断，因此启动粒细胞集落刺激因子(G-CSF)以稳定中性粒细胞计数.关于蛋白尿控制，患者最初接受血管紧张素转换酶抑制剂治疗约28个月.然而,由于进行性蛋白尿（>1克/24小时），根据修订后的2021KDIGO指南，将皮质类固醇（CS）添加6个月，结果良好。
结论：CN患者更易发生复发性病毒感染，会引发IgAN攻击.在我们的病例中，CS引起明显的蛋白尿缓解。G-CSF的使用有助于解决严重的中性粒细胞减少症发作，病毒感染和伴随的AKI发作，有助于IgAN更好的预后。进一步的研究是强制性的，以确定CN患儿是否存在IgAN的遗传易感性。
