背景:紫黑色肾病,一种以蛋白尿为特征的罕见疾病,估计肾小球滤过率(eGFR)降低,血小板减少症,红细胞增多症,和高尿酸血症,偶尔可能继发于紫红色先天性心脏病。由于紫癜性肾病的发病率极低,目前尚无详细的诊断标准或治疗方法。艾森曼格综合征(ES)最初由PaulWood在病理生理学术语中定义为“全身水平的肺动脉高压(PH),由高肺血管阻力(PVR)引起,主肺反向或双向分流,心室,或心房水平。“它通常在大的存在下发展,未修复的心房或室间隔缺损,动脉分流,或复杂形式的先天性心脏病(CHD),是与CHD相关的肺动脉高压(PAH)的最严重的血液动力学表型。本研究旨在概述一名艾森曼格综合征患者的病例,该患者发展为紫癜性肾病,并通过原发疾病治疗和对症治疗成功实现临床缓解。总的来说,本病例拓展了我们对紫癜性肾病的认识,为艾森曼格综合征的治疗提供了理论参考。
方法:一名33岁的中国女性在门诊就诊,过去两年半的尿检结果异常。经过全面的病史收集,她接受了必要的检查。心脏彩超显示肺动脉明显增宽,肺动脉高压(重度),以及轻度三尖瓣反流和动脉导管未闭。肾活检的结果,结合临床发现,提示红细胞增多症相关肾脏疾病的高风险.她最终被诊断出患有紫红色肾病和艾森曼格综合征。经对症治疗后症状缓解,例如ambrisentan的管理,非布索坦,和家庭氧气疗法。她在6个月的随访显示高尿酸血症的改善和体力的显着增加。
结论:发丝肾病是成人罕见的疾病。肾活检仍然是诊断各种肾病的金标准。积极治疗先天性心脏病和缓解缺氧可能是紫癜性肾病治疗的关键。
BACKGROUND: Cyanotic nephropathy, a rare disease characterized by proteinuria, decreased estimated glomerular filtration rate, thrombocytopenia, polycythemia, and hyperuricemia, may occasionally be secondary to cyanotic congenital heart disease (CHD). There are currently no detailed diagnostic criteria or treatments for cyanotic nephropathy, owing to its extremely low incidence. Eisenmenger syndrome (ES) was initially defined by Paul Wood in pathophysiologic terms as \"pulmonary hypertension (PH) at the systemic level, caused by a high pulmonary vascular resistance, with a reversed or bidirectional shunt at the aorto-pulmonary, ventricular, or atrial level.\" It typically develops in the presence of large, unrepaired atrial or ventricular septal defects, arterial shunts, or complex forms of CHD and is the most severe hemodynamic phenotype of pulmonary arterial hypertension associated with CHD. This study aimed to outline the
case of an ES patient who developed cyanotic nephropathy and successfully achieved clinical remission through primary disease treatment and symptomatic management. Overall, this
case expands our understanding of cyanotic nephropathy and lays a theoretical reference for the treatment of ES.
METHODS: A 33-year-old Chinese female attended the outpatient department with abnormal urine test results over the past two and a half years. Following a comprehensive medical history collection, she underwent the necessary tests. Cardiac color ultrasound displayed a significant widening of the pulmonary artery and PH (severe), as well as mild tricuspid regurgitation and patent ductus arteriosus. The results of the kidney biopsy, combined with clinical findings, suggested a high risk of polycythemia-related kidney disease. She was eventually diagnosed with cyanotic nephropathy and ES. Her symptoms were relieved following symptomatic treatment, such as the administration of ambrisentan, febuxostat, and home oxygen therapy. Her follow-up visit at 6 months demonstrated improvements in hyperuricemia and a significant increase in physical strength.
CONCLUSIONS: Cyanotic nephropathy is a rare condition in adults. Kidney biopsy remains the gold standard of diagnosis for various nephropathies. Active treatment of CHD and alleviating hypoxia may be pivotal for the treatment of cyanotic nephropathy.