renal system

肾脏系统
  • 文章类型: Case Reports
    实体瘤转移到睾丸是非常罕见的。这里,我们报道了一名男性患者在左肾根治性切除术3年后发生透明细胞肾细胞癌(RCC)的睾丸异时转移的病例。阴囊超声显示左睾丸肿块3.5cm×4cm,血清肿瘤标志物正常。患者接受了左腹股沟高位睾丸切除术,显示转移性肾细胞癌.胸部CT,腹部和骨盆显示肝脏多发。卡博替尼开始治疗转移性肾癌,在1年的随访中,患者没有发现疾病进展的证据。
    It is highly uncommon for solid tumours to metastasise to the testis. Here, we report a case of metachronous testicular metastasis from clear cell renal cell cancer (RCC) in a male patient 3 years after left radical nephrectomy. Ultrasound of the scrotum showed a 3.5 cm × 4 cm left testicular mass with normal serum tumour markers. The patient underwent left high inguinal orchidectomy, which revealed metastatic renal cell carcinoma. CT of the chest, abdomen and pelvis showed multiple liver secondaries. Cabozantinib was started for metastatic RCC, and the patient showed no evidence of disease progression in a follow-up of 1 year.
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  • 文章类型: Case Reports
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  • 文章类型: Case Reports
    我们介绍了一例由于髓过氧化物酶阳性的抗中性粒细胞胞浆抗体相关的血管炎和并发的冷凝集素疾病,40多岁的人患有肺-肾综合征,一种尚未在文献中描述的组合。这种疾病的暴发性过程,由于溶血并发症,包括肾脏替代治疗和机械通气的需要构成了重大的治疗挑战.
    We present a case of a man in his 40s with pulmonary-renal syndrome due to myeloperoxidase-positive antineutrophil cytoplasmic antibodies-associated vasculitis and concurrent cold agglutinin disease, a combination that has not yet been described in the literature. The fulminant course of the disease, including the need for kidney replacement therapy and mechanical ventilation posed a significant treatment challenge due to haemolytic complications.
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  • 文章类型: Case Reports
    一名40多岁的男子因IgA肾病而患有终末期肾病,并接受腹膜透析,有1周的呼吸困难史,咳嗽和流鼻血.胸部CT扫描显示磨玻璃改变,而血液检查显示炎症标志物升高和血管炎筛查阴性。这包括阴性ANCA和抗GBM抗体。用抗生素对疑似非典型肺炎的初始治疗没有临床改善。在录取过程中,他的症状逐渐恶化,导致氧气依赖性,FiO2为40%和咯血发作。怀疑肺血管炎是由于临床恶化,提示咨询三级血管炎中心。随后得出结论,临床和放射学发现与ANCA阴性肺血管炎或罕见的IgA相关肺毛细血管炎相关。甲基强的松龙和利妥昔单抗治疗显着改善,允许快速吸氧。患者采用逐渐减少的泼尼松龙方案出院。
    A man in his 40s with end-stage kidney disease due to IgA nephropathy and receiving peritoneal dialysis presented with a 1-week history of breathlessness, cough and nosebleeds. CT scan of the chest revealed ground glass changes while blood tests indicated elevated inflammatory markers and a negative vasculitis screen. This included negative ANCA and anti-GBM antibodies. Initial treatment for suspected atypical pneumonia with antibiotics yielded no clinical improvement.Over the course of the admission, his symptoms progressively worsened, leading to oxygen dependency with a FiO2 of 40% and episodes of haemoptysis. Suspicions of pulmonary vasculitis arose due to clinical deterioration, prompting consultation with a tertiary vasculitis centre. It was subsequently concluded that the clinical and radiological findings correlated with ANCA-negative pulmonary vasculitis or a rare case of IgA-associated pulmonary capillaritis. Treatment with methylprednisolone and rituximab led to significant improvement, allowing rapid oxygen withdrawal. The patient was discharged with a tapering prednisolone regimen.
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  • 文章类型: Journal Article
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  • 文章类型: Case Reports
    常染色体显性遗传性多囊肾病(ADPKD)是导致肾功能损害的重要原因。它是导致需要透析的终末期肾脏疾病的最常见的遗传疾病。ADPKD是一种多系统疾病,与一些额外的肾脏异常有关。脾动脉瘤在普通人群中很少见。ADPKD与脑动脉瘤有关。然而,脾动脉瘤不是公认的ADPKD并发症。我们报告了在已知ADPKD的妇女的腹部CT成像中偶然发现的脾动脉瘤的不寻常病例。
    Autosomal dominant polycystic kidney disease (ADPKD) is an important cause of renal dysfunction. It is the most common genetic disorder leading to end-stage kidney disease requiring dialysis. ADPKD is a multisystem disease and is linked to several extra renal abnormalities. Splenic artery aneurysms are rare in the general population. ADPKD is associated with cerebral artery aneurysms. However, splenic artery aneurysms are not a well-recognised complication of ADPKD. We report an unusual case of a splenic artery aneurysm found incidentally on abdominal CT imaging of a woman with known ADPKD.
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  • 文章类型: Journal Article
    血管紧张素转换酶(ACE)基因(ACE)插入/缺失(I/D)多态性提高了个性化ACE抑制剂治疗的可能性,以优化其效率并减少遗传上不同亚组的副作用。然而,其在这些亚组中的影响程度尚不清楚.因此,我们扩展了血压调节的计算模型,以研究ACEI/D多态性对接受抗高血压治疗的人体血流动力学参数的影响.该模型表明,血压对血清ACE活性的依赖性是饱和度的函数,因此,ACEI/D与血压水平之间缺乏关联可能是由于特定人群中ACE活性较高.此外,在一个模拟不同类型降压药效果的扩展模型中,我们探讨了ACEI/D与肾素-血管紧张素-醛固酮系统抑制剂疗效之间的关系.该模型预测心血管和肾脏参数对治疗的反应直接取决于ACE活性。然而,仅在ACE水平高和低的组之间观察到参数变化的显着差异,而同一组内不同ACEI/D基因型的绝对值变化相似。我们得出的结论是,单个遗传变异仅占治疗成功遗传的一小部分,其预测价值有限。
    The angiotensin-converting enzyme (ACE) gene (ACE) insertion/deletion (I/D) polymorphism raises the possibility of personalising ACE inhibitor therapy to optimise its efficiency and reduce side effects in genetically distinct subgroups. However, the extent of its influence among these subgroups is unknown. Therefore, we extended our computational model of blood pressure regulation to investigate the effect of the ACE I/D polymorphism on haemodynamic parameters in humans undergoing antihypertensive therapy. The model showed that the dependence of blood pressure on serum ACE activity is a function of saturation and therefore, the lack of association between ACE I/D and blood pressure levels may be due to high ACE activity in specific populations. Additionally, in an extended model simulating the effects of different classes of antihypertensive drugs, we explored the relationship between ACE I/D and the efficacy of inhibitors of the renin-angiotensin-aldosterone system. The model predicted that the response of cardiovascular and renal parameters to treatment directly depends on ACE activity. However, significant differences in parameter changes were observed only between groups with high and low ACE levels, while different ACE I/D genotypes within the same group had similar changes in absolute values. We conclude that a single genetic variant is responsible for only a small fraction of heredity in treatment success and its predictive value is limited.
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  • 文章类型: Case Reports
    肾动脉狭窄可使射血分数降低的心力衰竭的治疗复杂化。因为它是使用ACE抑制剂的常规禁忌症。我们报告了一例严重左心室收缩功能障碍患者的双侧肾动脉血运重建允许安全重新引入依那普利(以及随后的沙库巴曲缬沙坦)的病例。在选定的患者中,肾动脉血管成形术具有一定的作用,可以为收缩功能受损的心力衰竭患者提供最佳的药物治疗。
    Renal artery stenosis can complicate the management of heart failure with reduced ejection fraction, as it is a conventional contraindication to the use of ACE inhibitors. We report a case in which bilateral renal artery revascularisation allowed the safe reintroduction of enalapril (and subsequently sacubitril valsartan) in a patient with severe left ventricular systolic dysfunction. There is a role for renal artery angioplasty in selected patients to allow optimal medical therapy for patients with heart failure due to impaired systolic function.
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  • 文章类型: Case Reports
    我们介绍了一例涉及一名30多岁的男性患者的病例,该患者在过去5年中因低钾血症反复发作而入院。他的病史显示高血压,注意缺陷多动障碍(ADHD),自闭症,和偏执狂。他在服用西酞普兰,雷米普利,氨氯地平,还有普拉克索.测试表明醛固酮/肾素比率和血浆肾上腺素水平正常。回顾他的饮食史,据指出,他每天消耗3至3.5升可乐味饮料。在可乐味饮料的摄入量和钾替代量显着减少后,钾水平达到了正常水平。随后的门诊随访显示,即使患者停止服用钾替代片剂,钾水平仍保持正常。鉴于与碳酸饮料相关的低钾血症的罕见,这种关联的潜在机制尚不清楚.在这个案例报告中,我们试图为所涉及的机制提供一个可能的解释。
    We present a case involving a male patient in his 30s who was admitted to hospital due to recurrent episodes of hypokalaemia over the past 5 years. His medical history revealed hypertension, attention deficit hyperactivity disorder (ADHD), autism, and paranoia. He was taking citalopram, ramipril, amlodipine, and pramipexole. Tests indicated normal levels of aldosterone/renin ratio and plasma metanephrines. On reviewing his dietary history, it was noted that he consumed 3 to 3.5 L of cola-flavoured drinks on a daily basis. Normal potassium levels were achieved after a significant reduction in cola-flavoured drinks intake and potassium replacement. Subsequent outpatient clinic follow-up revealed that normal potassium levels were maintained even after the patient ceased taking potassium replacement tablets. Given the rarity of hypokalaemia associated with fizzy drinks, the underlying mechanism for this association remains unclear. In this case report, we attempt to provide a possible explanation for the involved mechanisms.
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  • 文章类型: Case Reports
    遗传性局灶性节段性肾小球硬化(FSGS)是成人遗传性蛋白尿慢性肾病(CKD)的重要原因,但被低估了。我们讨论了一例由于反向形式蛋白2(INF2)基因突变导致的家族性CKD,在8年的时间里,三个兄弟姐妹的表型表现不同,从CKD伴肾病下蛋白尿到肾病范围蛋白尿伴FSGS塌陷的肾脏活检。最小的兄弟姐妹是索引案例。只有在另外两个兄弟姐妹被诊断出患有肾脏疾病后,这个家庭才同意接受基因检测。这个案例凸显了临床异质性,索引病例中没有家族史,最初缺乏经活检证实的特异性诊断,以及不愿接受基因检测可延迟成人遗传性肾病的诊断.
    Genetic focal segmental glomerulosclerosis (FSGS) is an important but underestimated cause of inherited proteinuric chronic kidney disease (CKD) in adults. We discuss a case of familial CKD due to inverted formin 2 (INF2) gene mutation, where three siblings had disparate phenotypic presentations ranging from CKD with subnephrotic proteinuria to nephrotic-range proteinuria with collapsing FSGS on kidney biopsy over a period of 8 years. The youngest sibling was the index case. The family agreed to undergo genetic testing only after two more siblings were diagnosed with kidney disease. This case highlights how clinical heterogeneity, absence of family history in the index case, initial lack of specific biopsy-proven diagnosis and reluctance to undergo genetic testing can delay the diagnosis of genetic kidney disease in adults.
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