Chang Chia-Cheng, Chen Jiann-Shiuh, Huang Chao-Ching, Yang Yuan-Ning, Chen Chih-Chia
Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 704302, Taiwan.
Department of Pediatrics, College of Medicine, Taipei Medical University, Taipei 110301, Taiwan.
Children (Basel). 2024 Dec 18;11(12):1534. doi: 10.3390/children11121534.
Polycythemia is a rare condition that can be either primary or secondary. We report a case of an adolescent with progressive hydronephrosis-induced polycythemia and low erythropoietin levels, along with a thorough literature review.
A 17-year-old girl with epilepsy had progressively elevated hemoglobin levels and low erythropoietin levels. Initial investigations, including genetic surveys and bone marrow studies, showed no evidence of polycythemia vera or myeloproliferative disorders. Further imaging studies revealed severe hydronephrosis on the left side caused by ureteropelvic junction stenosis. Following nephroureterectomy, her hemoglobin levels gradually returned to normal.
This case highlights the potential association between hydronephrosis and polycythemia, even with low erythropoietin levels. Renal abnormalities should be considered in the differential diagnosis of pediatric patients with polycythemia, even in the absence of elevation of erythropoietin. Further research is needed to clarify this association and its pathophysiology.
红细胞增多症是一种罕见病症，可分为原发性或继发性。我们报告一例青少年患者，其因进行性肾积水导致红细胞增多症且促红细胞生成素水平较低，并对相关文献进行全面综述。
一名患有癫痫的17岁女孩，血红蛋白水平逐渐升高，促红细胞生成素水平较低。包括基因检测和骨髓检查在内的初步检查未发现真性红细胞增多症或骨髓增殖性疾病的证据。进一步的影像学检查显示左侧因输尿管肾盂连接处狭窄导致严重肾积水。肾输尿管切除术后，她的血红蛋白水平逐渐恢复正常。
该病例突出了肾积水与红细胞增多症之间的潜在关联，即使促红细胞生成素水平较低。在对患有红细胞增多症的儿科患者进行鉴别诊断时，即使促红细胞生成素未升高，也应考虑肾脏异常情况。需要进一步研究以阐明这种关联及其病理生理学。
