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Evaluation of the Prevalence of Dental Anomalies Among Children Through Panoramic Radiographs for Five Years in Ahvaz, Iran 通过对伊朗阿瓦士地区儿童五年的全景 X 光片检查评估牙齿畸形的发生率
Pub Date : 2024-06-10 DOI: 10.5812/jhrt-147447
Maryam Roayaei Ardakani, Masoumeh Khataminia, Saeide Rahimi
Background: Malocclusions, cosmetic problems, some problems linked to tooth extraction and root canal treatment, and other diseases of the mouth and teeth can occur as a result of dental anomalies (DAs). Objectives: The present research was conducted to determine the prevalence of DAs through panoramic radiographs of children in Ahvaz, Iran, in five years (2018 - 2022). Methods: In this descriptive-cross-sectional study, 1000 panoramic radiographs were selected from the archives of the Radiology Department of Ahvaz Dental School and other radiology centers of the city related to children in the age group of 5 - 12 years. A pediatric dental assistant and a pediatric dental specialist evaluated them for the presence of DAs based on Lam's (2014) criteria and definitions. The frequency of DAs was reported based on numbers and percentages. Finally, the raw results were analyzed using the chi-square test and Student's t-test at the significance level of α = 0.05 by SPSS software version 25. Results: The results showed that only 150 (15%) patients had at least one DA and 850 (85%) had no DAs. Most DAs were related to dental missing (4.2%), dental transposition (2.9%), and ectopic growth (2.2%). The frequency of dental missing (71.4% vs. 28.6%) and dental transposition (72.4% vs. 27.6%) in boys were significantly higher than in girls. The frequency of DAs missing teeth in the lower jaw (61.9%) was significantly more than in the upper jaw (38.1%). Conclusions: Anomalies of missing teeth, transposition, and ectopic growths are among the most common anomalies in Ahvaz children, but the anomalies of microdontia, tooth displacement, dens evaginates, and dentinogenesis imperfect were rare DAs among them. As the prevalence of DAs in Ahvaz children is estimated to be high, early diagnosis and treatment of this complication are suggested as a means to prevent complications.
背景:牙齿畸形(DAs)可导致错位、美容问题、与拔牙和根管治疗相关的一些问题以及口腔和牙齿的其他疾病。研究目的本研究旨在通过对伊朗阿瓦士市五年(2018 - 2022 年)内的儿童进行全景拍片,确定 DAs 的患病率。研究方法在这项描述性横断面研究中,从阿瓦士牙科学校放射科和该市其他放射中心的档案中选取了 1000 张与 5 - 12 岁年龄组儿童相关的全景 X 光片。一名儿童牙科助理和一名儿童牙科专家根据 Lam(2014 年)的标准和定义对这些照片进行了评估,以确定是否存在 DAs。DAs的频率根据数字和百分比进行报告。最后,在α = 0.05的显著性水平下,使用SPSS软件25版的卡方检验和学生t检验对原始结果进行分析。结果显示结果显示,仅有 150 名(15%)患者至少有一个缺牙区,850 名(85%)患者没有缺牙区。大多数DA与牙齿缺失(4.2%)、牙齿移位(2.9%)和异位生长(2.2%)有关。男孩牙齿缺失(71.4% 对 28.6%)和牙齿移位(72.4% 对 27.6%)的频率明显高于女孩。下颚缺失牙(61.9%)的频率明显高于上颚缺失牙(38.1%)。结论在阿瓦士儿童中,牙齿缺失、移位和异位生长是最常见的畸形,但小牙畸形、牙齿移位、牙列不齐和牙本质发育不全则是罕见的畸形。据估计,阿瓦士儿童的牙源性畸形发病率很高,因此建议及早诊断和治疗这种并发症,以预防并发症的发生。
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引用次数: 0
The Application of Foot Reflexology for Anxiety and Pain Management in Women's Childbirth: A Literature Review 足部反射疗法在缓解妇女分娩焦虑和疼痛方面的应用:文献综述
Pub Date : 2024-03-24 DOI: 10.5812/jhrt-144798
Farideh Iraj
Context: Uncontrolled childbirth anxiety (CA) and labor pain (LP) may cause negative consequences for the mother during subsequent deliveries. This study aimed to evaluate the effect of foot reflexology (F-REFL) on reducing LP and CA during childbirth in the form of a review study. Evidence Acquisition: In this literature review, the findings were collected by evaluating the results of previous similar studies in the last three decades. The most important and common medical subject headings (MeSH) terms related to the topic under discussion were identified to conduct this study. Then, the most relevant studies were searched, and 226 studies were identified at this stage by searching them in the most reliable and essential international databases, including Google Scholar, Scopus, PubMed, and Web of Science. Considering the inclusion and exclusion criteria, 26 studies were identified to extract the results. Results: Most of the previous research studies were clinical trials, and their findings showed that F-REFL significantly reduces LP and CA. Conclusions: Foot reflexology has been shown to reduce LP and CA, making it an easy, cheap, and noninvasive method to reduce cesareans. Implementing this method is simple and does not require specialized personnel, and midwives can efficiently perform for mothers during childbirth. Additionally, reducing LP and CA experienced during birth through F-REFL improves women's positive birth experiences and protects postpartum mental health.
背景:不受控制的分娩焦虑(CA)和分娩疼痛(LP)可能会对产妇以后的分娩造成负面影响。本研究旨在以回顾性研究的形式,评估足部反射疗法(F-REFL)对减轻分娩过程中的阵痛和分娩焦虑的效果。证据获取:在本文献综述中,通过评估过去三十年中类似研究的结果来收集研究结果。为了开展这项研究,我们确定了与讨论主题相关的最重要和最常见的医学主题词表(MeSH)。然后,通过在谷歌学术、Scopus、PubMed 和 Web of Science 等最可靠、最重要的国际数据库中进行搜索,在此阶段共确定了 226 项相关研究。考虑到纳入和排除标准,最终确定了 26 项研究,并提取了研究结果。研究结果以往的研究大多是临床试验,其结果显示 F-REFL 能显著降低 LP 和 CA。结论足部反射疗法已被证明可以减少 LP 和 CA,是一种简单、廉价、非侵入性的减少剖宫产的方法。实施这种方法非常简单,不需要专业人员,助产士可以在分娩过程中为产妇有效实施。此外,通过 F-REFL 减少分娩过程中的 LP 和 CA 还能改善产妇的积极分娩体验,保护产后心理健康。
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引用次数: 0
The Effect of Cancer and its Treatment on Sexual Dysfunction in Women: A Review Study 癌症及其治疗对女性性功能障碍的影响:回顾性研究
Pub Date : 2024-03-16 DOI: 10.5812/jhrt-145060
Masoumeh Hashemi, Samira Alagholipour
Context: Sexual dysfunction (SDF) is one of the negative outcomes of cancer, especially breast cancer in women. Therefore, this review aimed to evaluate the effect of cancer disease and its treatment on SDF in women with cancer. Evidence Acquisition: This narrative review was conducted by searching past studies in reliable international databases, including Web of Science, Islamic World Science Citation Center (ISC), Scopus, PubMed, and Google Scholar, over the last three decades. In the first step of the search, 189 studies were found. In the second step, 16 studies were selected to present the study after considering the inclusion and exclusion criteria. Results: The results showed that SDF is one of the essential consequences of cancer, especially breast cancer in women, and the SDF incidence increases after cancer treatment, especially after chemotherapy. Based on previous similar studies, the SDF level in the cancer patients’ group was significantly higher than that of healthy individuals. Conclusions: Based on the results, SDF is one of the critical consequences of cancer and its treatment, which requires taking relevant measures to reduce this complication. In this regard, the physicians of these patients should provide the necessary recommendations as they refer them to psychiatrists. In addition, it is suggested that a part of the activities of psychiatric clinics be devoted to counseling about SDF treatment of breast cancer patients.
背景:性功能障碍(SDF)是癌症尤其是女性乳腺癌的负面影响之一。因此,本综述旨在评估癌症疾病及其治疗对女性癌症患者性功能障碍的影响。证据获取:本综述通过在可靠的国际数据库(包括 Web of Science、伊斯兰世界科学引文中心 (ISC)、Scopus、PubMed 和 Google Scholar)中搜索过去三十年中的研究来进行。在第一步搜索中,共找到 189 项研究。第二步,在考虑了纳入和排除标准后,选择了 16 项研究作为本研究的对象。研究结果结果表明,SDF 是癌症,尤其是女性乳腺癌的主要后果之一,SDF 的发生率在癌症治疗,尤其是化疗后有所增加。根据以往的类似研究,癌症患者组的 SDF 水平明显高于健康人。结论根据研究结果,SDF 是癌症及其治疗的严重后果之一,需要采取相关措施减少这一并发症。在这方面,这些患者的医生在将他们转诊给精神科医生时,应提供必要的建议。此外,建议精神科诊所将部分活动专门用于乳腺癌患者的 SDF 治疗咨询。
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引用次数: 0
Importance of Rigorous and Ongoing Monitoring of Animal Feed Quality and Storage Conditions to Mitigate Aflatoxin M1 Contamination in Dairy Products in Iran: A Health Policy Brief 对动物饲料质量和储存条件进行严格、持续的监测对减轻伊朗乳制品中黄曲霉毒素 M1 污染的重要性:卫生政策简报
Pub Date : 2024-03-13 DOI: 10.5812/jhrt-146654
K. Sharafi, Amir Kiani, Abdullah Khalid Omer, Kimya Parnoon, T. Massahi
Background: Milk and dairy products are essential for global nutrition, and ensuring their safety is crucial. Aflatoxin M1 (AFM1), a carcinogen from contaminated animal feed, poses a significant threat to consumers. Objectives: This “health policy brief" highlights the critical need for meticulous and constant monitoring of Iran's animal feed quality and storage conditions to minimize AFM1 contamination in dairy products. Methods: Comprehensive review papers on AFM1 were reviewed in Iranian dairy products, drawing evidence from various databases. Results: The prevalence of AFM1 contamination in Iranian dairy products, particularly risky for children due to extensive consumption, exceeds safety limits, with livestock feed identified as the primary source. Public health demands rigorous monitoring practices, such as stricter feed quality and storage regulations, regular AFM1 testing, stakeholder collaboration, and public awareness. There are many benefits associated with these measures, including lowering AFM1 levels in dairy products, improving food safety standards, minimizing AFM1 exposure risks, especially for children, and increasing consumer confidence in the integrity of the Iranian dairy industry. Conclusions: Continuous monitoring of animal feed is crucial to safeguard public health and ensure the safety of Iranian dairy products, particularly for children. This comprehensive approach, collaboration, and public awareness are vital to mitigating AFM1 contamination and promoting Iran's safe and robust dairy industry.
背景:牛奶和乳制品是全球营养的必需品,确保其安全至关重要。黄曲霉毒素 M1(AFM1)是一种来自受污染动物饲料的致癌物质,对消费者构成重大威胁。目标:这份 "卫生政策简报 "强调了对伊朗动物饲料质量和储存条件进行细致、持续监测的迫切需要,以最大限度地减少乳制品中的 AFM1 污染。方法:从各种数据库中提取证据,对有关伊朗乳制品中 AFM1 的综合综述论文进行了审查。结果:伊朗乳制品中 AFM1 污染的普遍程度超过了安全限值,尤其是儿童因大量食用而面临的风险,而牲畜饲料被确定为主要来源。公共卫生要求采取严格的监测措施,如更严格的饲料质量和储存规定、定期 AFM1 检测、利益相关者合作和提高公众意识。这些措施可带来诸多益处,包括降低乳制品中的 AFM1 含量、提高食品安全标准、最大限度地降低 AFM1 暴露风险(尤其是对儿童而言)以及增强消费者对伊朗乳制品行业诚信的信心。结论:对动物饲料进行持续监测对于保障公众健康和确保伊朗乳制品(尤其是儿童乳制品)的安全至关重要。这种全面的方法、合作和公众意识对于减轻 AFM1 污染和促进伊朗安全稳健的乳制品行业至关重要。
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引用次数: 0
The Need for Re-evaluating the Potato Chips Production Process in Iranian Factories to Minimize the Acrylamide Level: A Health Policy Brief 有必要重新评估伊朗工厂的薯片生产工艺,以尽量减少丙烯酰胺含量:健康政策简介
Pub Date : 2024-03-13 DOI: 10.5812/jhrt-146653
K. Sharafi, Amir Kiani, Abdullah Khalid Omer, Kimya Parnoon, T. Massahi
Background: Acrylamide (AA), a potential carcinogen in high-temperature processed foods like potato chips, raises significant health concerns. Studies have shown that exposure to AA is related to cancer and neurological disorders. Objectives: This research aimed to present a “health policy brief" for policymakers and healthcare authorities in Iran about the criticality of reassessing potato chip manufacturing processes to reduce AA levels and ensure consumer safety. Methods: Relevant studies were reviewed from various databases to support our arguments. Results: Studies conducted in Iran have indicated a high AA concentration in Iranian potato chips, with a concerning risk index for children, necessitating stricter regulations and production process modifications. Conclusions: Modifications like temperature control, pre-treatment methods, alternative frying media, and consumer awareness campaigns to minimize AA formation and promote public health were proposed. These items, coupled with research on asparagine reduction in potatoes grown in Iran, can help establish Iran as a leader in producing safer potato chips.
背景:丙烯酰胺(AA)是薯片等高温加工食品中的一种潜在致癌物质,引起了人们对健康的极大关注。研究表明,接触 AA 与癌症和神经系统疾病有关。研究目的本研究旨在为伊朗的政策制定者和医疗保健机构提供一份 "健康政策简报",说明重新评估薯片生产工艺以降低 AA 含量并确保消费者安全的重要性。研究方法:从各种数据库中查阅相关研究,以支持我们的论点。结果:在伊朗进行的研究表明,伊朗薯片中的 AA 浓度很高,对儿童的风险指数很高,因此有必要制定更严格的法规并修改生产工艺。结论建议采取温度控制、预处理方法、替代油炸介质和消费者宣传活动等改进措施,最大限度地减少 AA 的形成,促进公众健康。这些措施,再加上对伊朗马铃薯中天门冬酰胺含量的研究,将有助于伊朗成为生产更安全薯片的领先国家。
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引用次数: 0
The Effect of the Extended Parallel Process Model on Self-efficacy of Spouses of Veterans with Post-traumatic Stress Disorder 扩展平行过程模型对创伤后应激障碍退伍军人配偶自我效能的影响
Pub Date : 2024-03-09 DOI: 10.5812/jhrt-143160
Akram Rezaei Aghuei, Hamid Hojjati, N. Hekmati Pour, Hamid Nejat, Ahmad Akbari
Background: Spouses of veterans face many psychological problems, so it is necessary to use different methods to manage the care of veterans and their spouses. Objectives: This study aimed to evaluate the effect of the extended parallel process model (EPPM) on the self-efficacy of spouses of veterans with post-traumatic stress disorder (PTSD). Methods: The present study was semi-experimental research carried out by control and intervention groups with a pre-test and post-test design. Thirty veterans' spouses were selected randomly and divided into two groups: the control group (15 people) and the group trained with EPPM (15 people). The intervention type was the training, and the method of implementation of the intervention was holding six sessions. The training was based on EPPM; each session was 30 to 40 minutes. The parenting self-agency measure (PSAM) questionnaire evaluated the self-efficacy variable before and after the intervention. Finally, the results were analyzed using statistical tests in the SPSS software Version 21 environment at the significance level (α = 0.05). Results: The independent samples t-test showed that the self-efficacy level before the intervention was not significantly different among all two study groups (P=0.18). At the same time, this difference was significant after the intervention (P
背景:退伍军人的配偶面临许多心理问题,因此有必要采用不同的方法来管理退伍军人及其配偶的护理工作。研究目的本研究旨在评估扩展平行过程模型(EPPM)对患有创伤后应激障碍(PTSD)的退伍军人配偶的自我效能感的影响。研究方法本研究为半实验性研究,分为对照组和干预组,采用前测和后测设计。随机选取 30 名退伍军人的配偶,将其分为两组:对照组(15 人)和接受 EPPM 培训组(15 人)。干预类型为培训,干预实施方法为举行六次会议。培训以 EPPM 为基础,每节课 30-40 分钟。育儿自我能力测量(PSAM)问卷对干预前后的自我效能变量进行了评估。最后,在显著性水平(α = 0.05)下,使用 SPSS 软件 21 版对结果进行统计检验分析。结果独立样本 t 检验显示,干预前的自我效能感水平在所有两个研究组中没有显著差异(P=0.18)。同时,干预后这一差异显著(P
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引用次数: 0
The Effectiveness of Transcranial Direct Current Stimulation for the Treatment of Various Mental Disorders: A Narrative Review 经颅直流电刺激治疗各种精神障碍的效果:叙述性综述
Pub Date : 2024-02-12 DOI: 10.5812/jhrt-143420
Mohammad Hossein Salemi, Nasser Sobhi-Gharamaleki
Context: Transcranial electrical stimulation (tES) is a non-invasive method to stimulate the brain, which has recently been used to treat psychiatric and neurological disorders. Transcranial direct current stimulation (tDCS) is one of the most widely used tES protocols. This study aimed to review the effectiveness of tDCS for the treatment of various mental disorders. Evidence Acquisition: The present study is a narrative review type, for which more than 55 articles and scientific reports were downloaded using MeSH terms related to the subject of the study by reliable and international databases. Considering the inclusion and exclusion criteria, 25 studies were selected, and the results of those studies were recorded. Results: Transcranial direct current stimulation significantly affected the treatment of various mental disorders, including depressive disorder, obsessive-compulsive disorder, autism spectrum disorder, attention deficit hyperactivity disorder, and anxiety disorders. In addition, this treatment method improved the symptoms of each of the aforementioned mental disorders. Conclusions: Based on the findings, the use of tDCS can be effective in improving mental disorders. However, it seems necessary to conduct more studies to achieve reassuring findings due to limited results in some areas.
背景:经颅电刺激(transcranial electrical stimulation,tES)是一种刺激大脑的非侵入性方法,最近被用于治疗精神和神经系统疾病。经颅直流电刺激(tDCS)是应用最广泛的经颅电刺激方案之一。本研究旨在回顾经颅直流电刺激治疗各种精神障碍的有效性。证据获取:本研究为叙事性综述,在可靠的国际数据库中使用与研究主题相关的 MeSH 词条下载了超过 55 篇文章和科学报告。根据纳入和排除标准,筛选出 25 项研究,并记录了这些研究的结果。研究结果经颅直流电刺激对抑郁症、强迫症、自闭症谱系障碍、注意缺陷多动障碍和焦虑症等各种精神障碍的治疗有明显效果。此外,这种治疗方法还能改善上述每种精神障碍的症状。结论根据研究结果,使用 tDCS 可以有效改善精神障碍。不过,由于某些领域的研究结果有限,似乎有必要进行更多的研究,以获得令人信服的结果。
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引用次数: 0
The Effectiveness of Transcranial Direct Current Stimulation for the Treatment of Various Mental Disorders: A Narrative Review 经颅直流电刺激治疗各种精神障碍的效果:叙述性综述
Pub Date : 2024-02-12 DOI: 10.5812/jhrt-143420
Mohammad Hossein Salemi, Nasser Sobhi-Gharamaleki
Context: Transcranial electrical stimulation (tES) is a non-invasive method to stimulate the brain, which has recently been used to treat psychiatric and neurological disorders. Transcranial direct current stimulation (tDCS) is one of the most widely used tES protocols. This study aimed to review the effectiveness of tDCS for the treatment of various mental disorders. Evidence Acquisition: The present study is a narrative review type, for which more than 55 articles and scientific reports were downloaded using MeSH terms related to the subject of the study by reliable and international databases. Considering the inclusion and exclusion criteria, 25 studies were selected, and the results of those studies were recorded. Results: Transcranial direct current stimulation significantly affected the treatment of various mental disorders, including depressive disorder, obsessive-compulsive disorder, autism spectrum disorder, attention deficit hyperactivity disorder, and anxiety disorders. In addition, this treatment method improved the symptoms of each of the aforementioned mental disorders. Conclusions: Based on the findings, the use of tDCS can be effective in improving mental disorders. However, it seems necessary to conduct more studies to achieve reassuring findings due to limited results in some areas.
背景:经颅电刺激(transcranial electrical stimulation,tES)是一种刺激大脑的非侵入性方法,最近被用于治疗精神和神经系统疾病。经颅直流电刺激(tDCS)是应用最广泛的经颅电刺激方案之一。本研究旨在回顾经颅直流电刺激治疗各种精神障碍的有效性。证据获取:本研究为叙事性综述,在可靠的国际数据库中使用与研究主题相关的 MeSH 词条下载了超过 55 篇文章和科学报告。根据纳入和排除标准,筛选出 25 项研究,并记录了这些研究的结果。研究结果经颅直流电刺激对抑郁症、强迫症、自闭症谱系障碍、注意缺陷多动障碍和焦虑症等各种精神障碍的治疗有明显效果。此外,这种治疗方法还能改善上述每种精神障碍的症状。结论根据研究结果,使用 tDCS 可以有效改善精神障碍。不过,由于某些领域的研究结果有限,似乎有必要进行更多的研究,以获得令人信服的结果。
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引用次数: 0
The Effect of Preoperative Education on Preoperative Anxiety in Patients Waiting for Surgery: A literature Review 术前教育对等待手术患者术前焦虑的影响:文献综述
Pub Date : 2024-02-02 DOI: 10.5812/jhrt-144503
Shahram Samadi
Context: Among patients undergoing surgery, preoperative anxiety (PA) is one of the most common psychological problems that can negatively impact the patient's physical health and the operation's outcome. Preoperative patient education (PPE) is a way to reduce PA, which has many advantages over pharmaceutical methods. Therefore, this study aimed to evaluate the effectiveness of PPE on PA in patients who are candidates for surgery by reviewing similar previous studies. Evidence Acquisition: The data in this narrative review were collected by searching past studies in reliable international databases, including Web of Science, Science Direct, Scopus, PubMed, and Google Scholar, in the last two decades. In the first stage of the search, 248 articles and scientific reports were received, and then 30 articles were selected as final studies by considering the inclusion and exclusion criteria. Results: In most previous similar studies, PPE significantly reduced PA in patients who are candidates for surgery. However, the findings of a small number of studies also showed that PPE had little positive effect, no effect, or negative effect on PA control. There were different methods to provide information to patients before surgery, and the efficiency and application of each were different based on the demographic characteristics of the patients. Conclusions: Based on the findings, appropriate training methods can reduce the level of PA in patients who are candidates for surgery. However, in some past studies, providing information about the surgical procedure may increase patients' PA. Therefore, nurses or medical staff with more contact with patients are suggested to have sufficient experience and knowledge in providing information and choosing the training method for patients before surgery.
背景:在接受手术的患者中,术前焦虑(PA)是最常见的心理问题之一,会对患者的身体健康和手术效果产生负面影响。术前患者教育(PPE)是减少术前焦虑的一种方法,与药物治疗方法相比具有很多优势。因此,本研究旨在通过回顾以往的类似研究,评估 PPE 对手术候选患者 PA 的有效性。证据获取:本综述中的数据是通过在可靠的国际数据库(包括 Web of Science、Science Direct、Scopus、PubMed 和 Google Scholar)中搜索过去二十年中的研究而收集的。在第一阶段的搜索中,共收到 248 篇文章和科学报告,然后根据纳入和排除标准筛选出 30 篇文章作为最终研究。研究结果在之前的大多数类似研究中,PPE 能显著降低手术候选患者的 PA。但也有少数研究结果显示,PPE 对 PA 控制的积极作用很小、无作用或有负面作用。术前向患者提供信息的方法多种多样,根据患者的人口统计学特征,每种方法的效率和应用情况也不尽相同。结论:根据研究结果,适当的训练方法可以降低手术候选患者的 PA 水平。然而,在过去的一些研究中,提供有关手术过程的信息可能会增加患者的 PA。因此,建议与患者接触较多的护士或医务人员在术前为患者提供信息和选择训练方法时,应具备足够的经验和知识。
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引用次数: 0
Autosomal Dominant Tubulointerstitial Kidney Disease Case with Sever Acute Kidney Injury in Activities Beyond the Usual: An Unusual Presentation of the Disease 常染色体显性遗传性肾小管间质性肾病病例,活动时急性肾损伤严重,超出常规:非同寻常的疾病表现
Pub Date : 2024-01-31 DOI: 10.5812/jhrt-143852
Fereshteh Saddadi, Fateme Elahi, Azin Ghaffari
Introduction: Autosomal dominant tubulointerstitial kidney disease (ADTKD) is associated with multiple gene mutations and is recognized under various names, including medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, uromodulin-associated kidney disease, and medullary cystic kidney disease type 2. A comprehensive understanding of these rare disorders can shed light on the pattern of tubulointerstitial fibrosis observed in various forms of chronic kidney disease. Case Presentation: Here, a case of a patient is presented who experienced acute kidney injury (AKI) following severe physical activity and an atypical manifestation of this genetic disorder. Typically, ADTKD leads to a gradual loss of kidney function, but the patient presented with AKI. The patient's renal function returned to normal following appropriate therapy. The patient's brother had a similar history of renal disease following physical activities, prompting suspicion of a shared genetic disorder. Conclusions: A genome-wide association study (GWAS) was conducted, and the results revealed the presence of the mucin 1 (MUC1) mutation, confirming the diagnosis of ADTKD. This case highlights the importance of recognizing atypical presentations of genetic disorders and utilizing advanced genetic studies for accurate diagnosis and management.
简介常染色体显性肾小管间质性肾病(ADTKD)与多种基因突变有关,有多种名称,包括髓质囊性肾病 2 型、家族性幼年高尿酸血症肾病、尿调节蛋白相关性肾病和髓质囊性肾病 2 型。对这些罕见疾病的全面了解可以帮助人们了解在各种慢性肾病中观察到的肾小管间质纤维化模式。病例展示:这里介绍的病例是一名患者在剧烈运动后出现急性肾损伤(AKI),这也是这种遗传性疾病的非典型表现。通常情况下,ADTKD 会导致肾功能逐渐丧失,但该患者却出现了急性肾损伤。经过适当治疗后,患者的肾功能恢复正常。患者的兄弟在参加体育活动后也出现了类似的肾病病史,这让人怀疑他们有共同的遗传疾病。研究结论进行了全基因组关联研究(GWAS),结果显示存在粘蛋白 1(MUC1)突变,确诊为 ADTKD。该病例强调了识别遗传性疾病的非典型表现以及利用先进的遗传学研究进行准确诊断和管理的重要性。
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引用次数: 0
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