Renal cysts

肾囊肿
  • 文章类型: Journal Article
    在常染色体显性遗传多囊肾病(ADPKD)的实验研究中已经记录了细胞代谢的多种改变,并被认为是其发病机理的原因。阐明ADPKD中与肾囊肿代谢变化相关的分子通路和转录调节因子,我们比较了人类PKD1肾囊肿的整体基因表达数据,来自同一患者的微囊组织(MCT),和健康的人肾皮质组织样本.我们发现PKD1肾囊肿的基因表达谱与Warburg效应一致,基因途径的变化有利于细胞葡萄糖摄取和乳酸产生的增加。而不是丙酮酸氧化。此外,线粒体能量代谢在全球范围内受到抑制,与脂肪酸氧化相关的基因通路下调(FAO),支链氨基酸(BCAA)降解,克雷布斯周期,和肾囊肿中的氧化磷酸化(OXPHOS)。激活mTORC1及其两个靶原癌基因,HIF-1α和MYC,被预测为驱动参与观察到的代谢重编程的多个基因的表达(例如,GLUT3,HK1/HK2,ALDOA,ENO2,PKM,LDHA/LDHB,MCT4,PDHA1,PDK1/3,MPC1/2,CPT2,BCAT1,NAMPT);实际上,我们的数据证实了他们预测的表达模式.相反,我们发现AMPK抑制在肾囊肿中被预测。AMPK抑制与PGC-1α表达降低有关,转录因子PPARα的转录共激活因子,ERRα,和ERRγ,所有这些在调节氧化代谢和线粒体生物合成中起着关键作用。这些数据提供了ADPKD中代谢途径重编程的全面图谱,并突出了可以作为治疗干预目标的调控节点。
    Multiple alterations of cellular metabolism have been documented in experimental studies of autosomal dominant polycystic kidney disease (ADPKD) and are thought to contribute to its pathogenesis. To elucidate the molecular pathways and transcriptional regulators associated with the metabolic changes of renal cysts in ADPKD, we compared global gene expression data from human PKD1 renal cysts, minimally cystic tissues (MCT) from the same patients, and healthy human kidney cortical tissue samples. We found gene expression profiles of PKD1 renal cysts were consistent with the Warburg effect with gene pathway changes favoring increased cellular glucose uptake and lactate production, instead of pyruvate oxidation. Additionally, mitochondrial energy metabolism was globally depressed, associated with downregulation of gene pathways related to fatty acid oxidation (FAO), branched-chain amino acid (BCAA) degradation, the Krebs cycle, and oxidative phosphorylation (OXPHOS) in renal cysts. Activation of mTORC1 and its two target proto-oncogenes, HIF-1α and MYC, was predicted to drive the expression of multiple genes involved in the observed metabolic reprogramming (e.g., GLUT3, HK1/HK2, ALDOA, ENO2, PKM, LDHA/LDHB, MCT4, PDHA1, PDK1/3, MPC1/2, CPT2, BCAT1, NAMPT); indeed, their predicted expression patterns were confirmed by our data. Conversely, we found AMPK inhibition was predicted in renal cysts. AMPK inhibition was associated with decreased expression of PGC-1α, a transcriptional coactivator for transcription factors PPARα, ERRα, and ERRγ, all of which play a critical role in regulating oxidative metabolism and mitochondrial biogenesis. These data provide a comprehensive map of metabolic pathway reprogramming in ADPKD and highlight nodes of regulation that may serve as targets for therapeutic intervention.
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  • 文章类型: Journal Article
    背景:到目前为止,尚无关于低恶性潜能多房性囊性肾肿瘤(MCRNLMP)的临床生长速率与计算机断层扫描(CT)影像学特征之间的相关性的研究报告.我们的研究试图检查它们之间的相关性,目的是区分MCRNLMP与肾囊肿的独特特征,并探索有效的治疗策略。
    目的:探讨MCRNLMP的优化管理策略。
    方法:我们回顾性收集并分析了1520例患者的数据,包括1444例肾囊肿和76例MCRNLMP,他接受了肾囊肿减压术,根治性肾切除术,或在2013年1月至2021年12月期间在我们机构治疗肾囊性疾病的保留肾单位手术。MCRNLMP的检测利用波什尼亚克分类进行成像和2016年世界卫生组织临床病理学标准。
    结果:我们的细致探索揭示了关于MCRNLMP发生的令人信服的发现。准确地说,占所有单纯性肾囊肿病例的1.48%,复杂肾囊肿者占5.26%,值得注意的是12.11%的肾肿瘤与肾囊肿共存,表明统计学上的显著差异(P=0.001)。此外,MCRNLMP占囊肿快速生长速率≥2.0cm/年的患者群体的22.37%,而在增长率低于2.0厘米/年的人群中,这一比例仅为0.66%。在研究的76例MCRNLMP病例中,9例接受肾囊肿减压术后保留肾单位手术或根治性肾切除术的患者均未出现复发或转移.在其余67名患者中,他们在术后3年期间受到积极监测,只有1人在CT扫描中显示可疑复发.
    结论:MCRNLMP可以根据CT扫描和生长速率指标初步鉴定并分为三种类型。在治疗MCRNLMP时,首选肾部分切除术,同时应尽量减少根治性肾切除术。手术后,积极监测是可取的,以防止不必要的肾切除术。
    BACKGROUND: Up until now, no research has been reported on the association between the clinical growth rate of multilocular cystic renal neoplasm of low malignant potential (MCRNLMP) and computed tomography (CT) imaging characteristics. Our study sought to examine the correlation between them, with the objective of distinguishing unique features of MCRNLMP from renal cysts and exploring effective management strategies.
    OBJECTIVE: To investigate optimal management strategies of MCRNLMP.
    METHODS: We retrospectively collected and analyzed data from 1520 patients, comprising 1444 with renal cysts and 76 with MCRNLMP, who underwent renal cyst decompression, radical nephrectomy, or nephron-sparing surgery for renal cystic disease between January 2013 and December 2021 at our institution. Detection of MCRNLMP utilized the Bosniak classification for imaging and the 2016 World Health Organization criteria for clinical pathology.
    RESULTS: Our meticulous exploration has revealed compelling findings on the occurrence of MCRNLMP. Precisely, it comprises 1.48% of all cases involving simple renal cysts, 5.26% of those with complex renal cysts, and a noteworthy 12.11% of renal tumors coexisting with renal cysts, indicating a statistically significant difference (P = 0.001). Moreover, MCRNLMP constituted a significant 22.37% of the patient population whose cysts demonstrated a rapid growth rate of ≥ 2.0 cm/year, whereas it only represented 0.66% among those with a growth rate below 2.0 cm/year. Of the 76 MCRNLMP cases studied, none of the nine patients who underwent subsequent nephron-sparing surgery or radical nephrectomy following renal cyst decompression experienced recurrence or metastasis. In the remaining 67 patients, who were actively monitored over a 3-year postoperative period, only one showed suspicious recurrence on CT scans.
    CONCLUSIONS: MCRNLMP can be tentatively identified and categorized into three types based on CT scanning and growth rate indicators. In treating MCRNLMP, partial nephrectomy is preferred, while radical nephrectomy should be minimized. After surgery, active monitoring is advisable to prevent unnecessary nephrectomy.
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  • 文章类型: Journal Article
    带有上皮囊肿的血管平滑肌脂肪瘤(AMLEC)是肾血管平滑肌脂肪瘤(AML)的一种罕见变体。它的特征是常规AML成分与“卵巢样”基质中的上皮囊肿混合。混合上皮和间质肿瘤(MEST)是另一种以上皮囊肿和“卵巢样”间质为特征的肾脏肿瘤。虽然人们一致认为在MEST中上皮和基质成分是肿瘤,在AMLEC中,有人假设上皮成分可能代表肿瘤细胞的肾小管截留或卵巢样转分化.这项研究的目的是比较AMLEC和MEST的上皮基质成分的免疫表型,与正常肾脏和卵巢,以提供对这些实体的发病机理和关系的额外见解。在这项研究中,我们分析了2003年至2023年的8例AMLEC和14例MEST。我们用了组织微阵列,完整部分,或未染色的载玻片,包括肾脏和卵巢标记物:SF1,ER,PR,AR,PAX8,WT1,GATA3,CA-IX,p16,抑制素A,和BCL2。我们将这些病例与十个非肿瘤性卵巢和肾脏样本进行了比较。我们的发现表明,AMLEC和MEST的上皮成分类似于激素受体阳性的肾小管上皮(AR/ER-/PR-)。AMLEC基质成分类似激素受体阳性肾基质,而MEST类似于卵巢基质,支持苗勒氏转分化。我们的研究表明,AMLEC和MEST的上皮和基质成分在免疫表型上不同,也与正常组织不同。我们的研究结果表明,在AMLEC中,上皮-基质成分代表在失调的肿瘤微环境中激素驱动的非肿瘤性肾脏元素的增殖。
    Angiomyolipoma with epithelial cysts (AMLEC) is a rare variant of renal angiomyolipoma (AML). It is characterized by a conventional AML component admixed with epithelial cysts within an \"ovarian-like\" stroma. Mixed epithelial and stromal tumor (MEST) is another renal neoplasm featuring epithelial cysts and \"ovarian-like\" stroma. While there is consensus that in MEST the epithelial and stromal components are neoplastic, in AMLEC it has been hypothesized that the epithelial component may represent renal tubular entrapment or ovarian-like transdifferentiation of tumor cells. The aim of this study was to compare the immunophenotypes of the epithelial-stromal components of AMLEC and MEST, with normal kidney and ovary to provide additional insights into the pathogenesis and relationships of these entities. In this study, we analyzed eight cases of AMLEC and 14 cases of MEST from 2003 to 2023. We used tissue microarrays, full sections, or unstained slides with an immunohistochemical panel including renal and ovarian markers: SF1, ER, PR, AR, PAX8, WT1, GATA3, CA-IX, p16, inhibin A, and BCL2. We compared these cases with ten non-neoplastic ovary and kidney samples. Our findings indicate that the epithelial component of AMLEC and MEST resembles hormone receptor positive renal tubular epithelium (AR + /ER - /PR -). AMLEC\'s stromal component resembled hormone receptor positive renal stroma, while MEST\'s resembled ovarian stroma, supporting mullerian transdifferentiation. Our study showed that the epithelial and stromal components of AMLEC and MEST are immunophenotypically different and also differ from normal tissues. Our findings suggest that in AMLEC, the epithelial-stromal component represents a hormonally driven proliferation of non-neoplastic renal elements within a dysregulated tumor microenvironment.
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  • 文章类型: Journal Article
    肾纤毛病是一组影响肾脏原发性纤毛功能的遗传性疾病,以及其他器官。由于初级纤毛对于调节细胞信号通路很重要,睫状功能障碍导致一系列临床表现,包括肾衰竭,囊肿形成,和高血压。我们总结了目前对儿童肾纤毛病的病理生理和病理特征的认识,包括常染色体显性和隐性多囊肾病,肾单位,和Bardet-Biedl综合征,以及骨骼发育不良相关的肾纤毛病。在许多情况下,这些疾病的遗传基础已经确立,与大量纤毛相关的基因突变,如PKD1,PKD2,BBS,MKS,NPHP负责大多数情况。肾纤毛病的广泛特征是间质纤维化的发展和多个肾囊肿的形成,这些囊肿逐渐扩大并取代正常的肾组织。每个条件都显示出程度的细微差异,location,与年龄相关的囊肿和纤维化的发展。从先天性多系统综合征的产前诊断到成年后期无症状的儿童期出现并发症,因此临床病理相关性很重要,包括越来越多地使用靶向基因检测或全基因组测序,允许更好地了解遗传病理生理机制。
    Renal ciliopathies are a group of genetic disorders that affect the function of the primary cilium in the kidney, as well as other organs. Since primary cilia are important for regulation of cell signaling pathways, ciliary dysfunction results in a range of clinical manifestations, including renal failure, cyst formation, and hypertension. We summarize the current understanding of the pathophysiological and pathological features of renal ciliopathies in childhood, including autosomal dominant and recessive polycystic kidney disease, nephronophthisis, and Bardet-Biedl syndrome, as well as skeletal dysplasia associated renal ciliopathies. The genetic basis of these disorders is now well-established in many cases, with mutations in a large number of cilia-related genes such as PKD1, PKD2, BBS, MKS, and NPHP being responsible for the majority of cases. Renal ciliopathies are broadly characterized by development of interstitial fibrosis and formation of multiple renal cysts which gradually enlarge and replace normal renal tissue, with each condition demonstrating subtle differences in the degree, location, and age-related development of cysts and fibrosis. Presentation varies from prenatal diagnosis of congenital multisystem syndromes to an asymptomatic childhood with development of complications in later adulthood and therefore clinicopathological correlation is important, including increasing use of targeted genetic testing or whole genome sequencing, allowing greater understanding of genetic pathophysiological mechanisms.
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  • 文章类型: Journal Article
    是时候改变了。CEUS是一种已建立的方法,应更积极地纳入肾囊肿监测策略。这篇评论比较了准确性,优势,和CEUS的弱点,CECT,和MRI对肾囊肿的分类。为了避免CEUS过度分期,进一步区分IIF类,III,IV是必需的。进一步完善CEUS-Bosniak分类的目的是将CEUS更紧密地整合到肾囊肿的监测中,并开发新的复杂监测算法。
    It is time for a change. CEUS is an established method that should be much more actively included in renal cyst monitoring strategies. This review compares the accuracies, strengths, and weaknesses of CEUS, CECT, and MRI in the classification of renal cysts. In order to avoid overstaging by CEUS, a further differentiation of classes IIF, III, and IV is required. A further development in the refinement of the CEUS-Bosniak classification aims to integrate CEUS more closely into the monitoring of renal cysts and to develop new and complex monitoring algorithms.
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  • 文章类型: Journal Article
    常染色体显性遗传性多囊肾病(ADPKD)的肾囊肿进展高度依赖于血液中循环的药物。我们之前已经表明,使用不同的体外模型,这些药物之一是乌巴因激素。通过与Na+-K+-ATP酶(NKA)结合,哇巴因触发一系列信号转导事件,通过刺激细胞增殖来增强ADPKD囊肿进展,液体分泌,和肾小管上皮细胞的去分化。这里,我们确定了乌巴因在体内的作用。我们显示,每天给Pkd1RC/RCADPKD小鼠服用乌巴因1-5个月,在生理水平上,与注射生理盐水的对照组相比,肾囊肿面积和数量增加。此外,乌巴因赞成肾纤维化;然而,根据血尿素氮水平,肾功能没有显著改变.Ouabain没有性别优先效应,雄性和雌性小鼠同样受到影响。相比之下,哇巴因对野生型小鼠无明显影响。此外,当向小鼠(Pkd1RC/RCNKAα1OS/OS小鼠)引入另一个增加NKA对乌巴因亲和力的突变时,乌巴因对Pkd1RC/RC小鼠的作用加剧.总之,这项工作强调了在体内ADPKD的发展过程中,哇巴因作为促生因子的作用,NKA上的哇巴因亲和位点对这种效应至关重要,而循环的哇巴因是一种表观遗传因素,会使ADPKD表型恶化。NEW&NOTEWORTHY这项工作表明,乌本巴因激素在体内促进常染色体显性遗传性多囊肾病(ADPKD)的进展。Ouabain增加了肾囊肿的大小和数量,肾脏重量与体重之比,ADPKD小鼠模型中的肾纤维化。Na+-K+-ATPase对哇巴因的亲和力在这些作用中起关键作用。此外,这些结果与小鼠的性别无关。
    Renal cyst progression in autosomal dominant polycystic kidney disease (ADPKD) is highly dependent on agents circulating in blood. We have previously shown, using different in vitro models, that one of these agents is the hormone ouabain. By binding to Na+-K+-ATPase (NKA), ouabain triggers a cascade of signal transduction events that enhance ADPKD cyst progression by stimulating cell proliferation, fluid secretion, and dedifferentiation of the renal tubular epithelial cells. Here, we determined the effects of ouabain in vivo. We show that daily administration of ouabain to Pkd1RC/RC ADPKD mice for 1-5 mo, at physiological levels, augmented kidney cyst area and number compared with saline-injected controls. Also, ouabain favored renal fibrosis; however, renal function was not significantly altered as determined by blood urea nitrogen levels. Ouabain did not have a sex preferential effect, with male and female mice being affected equally. By contrast, ouabain had no significant effect on wild-type mice. In addition, the actions of ouabain on Pkd1RC/RC mice were exacerbated when another mutation that increased the affinity of NKA for ouabain was introduced to the mice (Pkd1RC/RCNKAα1OS/OS mice). Altogether, this work highlights the role of ouabain as a procystogenic factor in the development of ADPKD in vivo, that the ouabain affinity site on NKA is critical for this effect, and that circulating ouabain is an epigenetic factor that worsens the ADPKD phenotype.NEW & NOTEWORTHY This work shows that the hormone ouabain enhances the progression of autosomal dominant polycystic kidney disease (ADPKD) in vivo. Ouabain augments the size and number of renal cysts, the kidney weight to body weight ratio, and kidney fibrosis in an ADPKD mouse model. The Na+-K+-ATPase affinity for ouabain plays a critical role in these effects. In addition, these outcomes are independent of the sex of the mice.
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  • 文章类型: Journal Article
    目的:先天性肝纤维化(CHF)是一种罕见的疾病,其特征是胆道改变和肝纤维化的地理模式。肝活检对于确认其诊断至关重要。成人缺乏特定的临床指标往往导致诊断和管理的延误。虽然自然史没有得到很好的描述。我们试图定义活检证实的CHF成人的表现和结果。
    方法:对肝活检诊断为CHF的患者进行回顾性分析。用样本中位数和范围总结连续变量。分类变量用患者数量和百分比进行总结。
    结果:我们确定了在20年内评估的24名患者,初次就诊时平均年龄为51岁(范围22-72岁);14人为男性.最常见的影像学表现为肾囊肿(91.3%),脾肿大(69.6%),和肝硬化表现的肝脏(60.9%)。最常治疗的肝脏相关并发症是胆管炎(45.8%),静脉曲张(45.8%),和肝性脑病(25%)。两名患者死亡,中位随访时间为2.9年(范围:0.0-20.0年)。两名患者接受了经颈静脉肝内门体分流术(TIPS)放置以治疗食管静脉曲张出血。8例患者接受了肝移植(LT),最常见的适应症是失代偿性疾病(50%)。
    结论:当患者出现胆管炎和/或门脉高压并发症,并在影像学上出现肝硬化肝和肾囊肿时,应考虑CHF。根据疾病的严重程度,可能需要TIPS或LT等干预措施。
    OBJECTIVE: Congenital hepatic fibrosis (CHF) is a rare condition characterized by biliary tract changes and a geographic pattern of liver fibrosis. Liver biopsy is essential to confirm its diagnosis. The absence of specific clinical indicators in adults often leads to delays in diagnosis and management, while the natural history has not been well described. We sought to define the presentation and outcomes of adults with biopsy-proven CHF.
    METHODS: A retrospective chart review was conducted of patients diagnosed with CHF by liver biopsy. Continuous variables were summarized with the sample median and range. Categorical variables were summarized with number and percentage of patients.
    RESULTS: We identified 24 patients evaluated over a 20-year period, with a median age of 51 years (range 22-72 years) at initial presentation; 14 were male. The most common imaging findings were renal cysts (91.3%), splenomegaly (69.6%), and a cirrhotic-appearing liver (60.9%). The most commonly treated liver-related complications were cholangitis (45.8%), varices (45.8%), and hepatic encephalopathy (25%). Two patients died with a median length of follow-up of 2.9 years (range: 0.0-20.0 years). Two patients underwent transjugular intrahepatic portosystemic shunt (TIPS) placement to manage bleeding esophageal varices. Eight patients underwent liver transplantation (LT), the most common indication being decompensated disease (50%).
    CONCLUSIONS: CHF should be considered when patients present with cholangitis and/or complications of portal hypertension and have a cirrhotic appearing liver and renal cysts on imaging. Depending upon the disease severity, interventions such as TIPS or LT may be required.
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  • 文章类型: Case Reports
    目标:甲状旁腺功能减退,耳聋,和肾发育不良(HDR)综合征,也被称为巴拉卡特综合征,是一种罕见的常染色体显性疾病,其特征是甲状旁腺功能减退三联症,耳聋,和肾脏异常。该疾病是由锌指转录因子GATA3的单倍体不足引起的,并且表现出很大的临床变异性,每个特征都具有年龄依赖性。我们报告了两个无关的家族,他们的先证者被转诊到我们的门诊,以进一步评估甲状旁腺功能减退症。
    方法:家庭1的先证者,一个17岁的男孩,在常规血液检查中偶然发现严重的低钙血症(5.9mg/dL)。腹部超声显示双侧肾囊肿。听力测量评估显示存在双侧中度听力损失,尽管患者可以毫无问题地进行交流。相反,家庭2的先证者,一名19岁的男子,在14岁时患有严重的症状性低钙血症并伴有癫痫发作;由于在18岁时诊断出的多囊性肾病和双侧听力损失,他的既往病史在4个月大时进行了右肾切除术。
    结果:基于临床,生物化学,和放射学数据,怀疑HDR综合征,对GATA3基因的遗传分析显示,外显子3中存在两个致病变异,c.404dupC和c.431dupG,分别在家庭1和2的先证者中。
    结论:HDR综合征是甲状旁腺功能减退症的罕见原因,在所有明显特发性甲状旁腺功能减退症患者中必须排除。正确的诊断对于早期发现其他HDR相关特征和遗传咨询非常重要。
    OBJECTIVE: Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome, also known as Barakat syndrome, is a rare autosomal dominant disease characterized by the triad of hypoparathyroidism, deafness, and renal abnormalities. The disorder is caused by the haploinsufficiency of the zinc finger transcription factor GATA3 and exhibits a great clinical variability with an age-dependent penetrance of each feature. We report two unrelated kindreds whose probands were referred to our outpatient clinic for further evaluation of hypoparathyroidism.
    METHODS: The proband of family 1, a 17-year-old boy, was referred for severe hypocalcemia (5.9 mg/dL) incidentally detected at routine blood tests. Abdomen ultrasound showed bilateral renal cysts. The audiometric evaluation revealed the presence of bilateral moderate hearing loss although the patient could communicate without any problem. Conversely, the proband of family 2, a 19-year-old man, had severe symptomatic hypocalcemia complicated by epileptic seizure at the age of 14 years; his past medical history was remarkable for right nephrectomy at the age of 4 months due to multicystic renal disease and bilateral hearing loss diagnosed at the age of 18 years.
    RESULTS: Based on clinical, biochemical, and radiologic data, HDR syndrome was suspected and genetic analysis of the GATA3 gene revealed the presence of two pathogenetic variants in exon 3, c.404dupC and c.431dupG, in the proband of family 1 and 2, respectively.
    CONCLUSIONS: HDR syndrome is a rare cause of hypoparathyroidism and must be excluded in all patients with apparently idiopathic hypoparathyroidism. A correct diagnosis is of great importance for early detection of other HDR-related features and genetic counseling.
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  • 文章类型: Observational Study
    背景:原发性醛固酮增多症的筛查是基于醛固酮与肾素比值的测定。非抑制肾素可能导致假阴性筛查结果,这样的病人可能会错过注意力,潜在可治愈的治疗。我们调查了肾囊肿与非抑制血浆肾素之间的关联。
    方法:总之,在2020年10月7日至2021年12月30日期间,前瞻性招募了114例接受肾上腺静脉采样的确诊原发性醛固酮增多症患者。在手术过程中,从左右肾静脉和下腔静脉采集血浆样本进行肾素分析.使用对比增强计算机断层扫描识别肾囊肿。
    结果:在114例患者中,有58.2%发现肾囊肿。有囊肿和无囊肿患者的筛查和肾静脉肾素浓度均无显著差异,或者评估有和没有囊肿的肾脏。然而,囊肿在“高正常肾素”组(切点23.0mU/L)明显高于“低正常肾素”组(90.9%,n=11vs.56.0%,n=102,P=0.027)。“高正常肾素”组中所有年龄≤50岁的患者均有肾囊肿。在右肾静脉和左肾静脉中发现肾素浓度之间存在很强的相关性(r=.984),以及下腔静脉肾素浓度和肾素活性之间的关系(r=.817)。
    结论:在大多数原发性醛固酮增多症患者中发现肾囊肿,它们可能会干扰诊断,尤其是50岁以下的患者。在由于肾囊肿而导致肾素未抑制的患者中,醛固酮与肾素比值低于诊断阈值并不总是排除原发性醛固酮增多症的诊断.
    BACKGROUND: Screening for primary aldosteronism is based on measuring aldosterone-to-renin ratio. Non-suppressed renin may cause false negative screening results, and such patients may miss focused, potentially curable treatment. We investigated the association between renal cysts and non-suppressed plasma renin.
    METHODS: Altogether, 114 consecutive patients with confirmed primary aldosteronism undergoing adrenal vein sampling were prospectively recruited between October 7, 2020 and December 30, 2021. During the procedure, plasma samples for renin analyses were collected from the right and left renal veins and the inferior vena cava. Renal cysts were identified using contrast-enhanced computed tomography.
    RESULTS: Renal cysts were found in 58.2% of the 114 patients. Neither screening nor renal vein renin concentrations were significantly different in patients with and without cysts, or when the kidneys with and without cysts were evaluated. However, cysts were significantly more prevalent in the \"high-normal renin\" group (cut point 23.0 mU/L) than in the \"low to low-normal renin\" group (90.9%, n = 11 vs. 56.0%, n = 102, P = .027, respectively). All patients ≤50 years of age in the \"high-normal renin\" group had renal cysts. Strong correlations were found between renin concentrations in the right and left renal veins (r = .984), and between renin concentration and renin activity in the inferior vena cava (r = .817).
    CONCLUSIONS: Renal cysts are found in the majority of patients with primary aldosteronism, and they may interfere with diagnostics, especially in patients aged 50 years or less. In patients with non-suppressed renin due to renal cysts, aldosterone-to-renin ratio below the diagnostic threshold does not always exclude the diagnosis of primary aldosteronism.
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  • 文章类型: Journal Article
    ARL13B是一种富含纤毛的小GTP酶。小鼠肾脏中Arl13b的缺失导致肾囊肿和相关的初级纤毛缺失。同样,纤毛消融导致肾囊肿。为了研究ARL13B是否从纤毛内部起作用以指导肾脏发育,我们检查了表达工程化纤毛排除的ARL13B变体的小鼠的肾脏,ARL13BV358A.这些小鼠保留了肾纤毛并发展了囊性肾脏。因为ARL13B作为ARL3的鸟嘌呤核苷酸交换因子(GEF),我们检查了表达缺乏ARLGEF活性的ARL13B变体的小鼠的肾脏。ARL13BR79Q。我们发现这些小鼠的肾脏发育正常,没有囊肿的迹象。一起来看,我们的结果表明,ARL13B在纤毛内的功能,以抑制小鼠发育期间的肾囊形成,并且该功能不依赖于其作为ARL3的GEF的作用。
    ARL13B is a small GTPase enriched in cilia. Deletion of Arl13b in mouse kidney results in renal cysts and an associated absence of primary cilia. Similarly, ablation of cilia leads to kidney cysts. To investigate whether ARL13B functions from within cilia to direct kidney development, we examined kidneys of mice expressing an engineered cilia-excluded ARL13B variant, ARL13BV358A. These mice retained renal cilia and developed cystic kidneys. Because ARL13B functions as a guanine nucleotide exchange factor (GEF) for ARL3, we examined kidneys of mice expressing an ARL13B variant that lacks ARL3 GEF activity, ARL13BR79Q. We found normal kidney development with no evidence of cysts in these mice. Taken together, our results show that ARL13B functions within cilia to inhibit renal cystogenesis during mouse development, and that this function does not depend on its role as a GEF for ARL3.
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