Ketonuria

酮尿症
  • 文章类型: Journal Article
    美国糖尿病协会(ADA)欧洲糖尿病研究协会(EASD)联合英国糖尿病协会住院护理(JBDS),美国临床内分泌学协会(AACE)和糖尿病技术协会(DTS)召集了一个由内科医生和糖尿病专家组成的小组,以更新ADA关于成人糖尿病患者高血糖危机的共识声明。发表于2001年,最后更新于2009年。这份共识报告的目的是提供有关流行病学的最新知识,病理生理学,临床表现,以及诊断建议,治疗和预防成人糖尿病酮症酸中毒(DKA)和高血糖高渗状态(HHS)。自2009年以来对出版物的系统审查为新的建议提供了信息。目标受众是糖尿病医疗保健专业人员和糖尿病患者的全谱。
    The American Diabetes Association (ADA), European Association for the Study of Diabetes (EASD), Joint British Diabetes Societies for Inpatient Care (JBDS), American Association of Clinical Endocrinology (AACE) and Diabetes Technology Society (DTS) convened a panel of internists and diabetologists to update the ADA consensus statement on hyperglycaemic crises in adults with diabetes, published in 2001 and last updated in 2009. The objective of this consensus report is to provide up-to-date knowledge about the epidemiology, pathophysiology, clinical presentation, and recommendations for the diagnosis, treatment and prevention of diabetic ketoacidosis (DKA) and hyperglycaemic hyperosmolar state (HHS) in adults. A systematic examination of publications since 2009 informed new recommendations. The target audience is the full spectrum of diabetes healthcare professionals and individuals with diabetes.
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  • 文章类型: Systematic Review
    目的:关于枫糖浆尿病(MSUD)的口腔表现和牙齿管理的文献很少。本报告的目的是介绍一个新的MSUD病例,特别强调口头发现,并回顾相关文献。
    方法:根据描述病例报告的CARE指南,描述了一例4岁男孩MSUD的病例报告。对相关文献进行了范围回顾,根据PRISMA-ScR指南,通过搜索PubMed,Medline,Embase,以及描述MSUD中牙科管理和/或口腔表现的文章的灰色文献。
    结果:最初的搜索确定了219篇文章,但只有4人符合纳入标准。大量龋齿和牙菌斑引起的牙龈炎是MSUD的主要口腔发现。其他口腔发现包括釉质发育不全,骨骼异常,和异常的口头行为。疾病相关因素似乎在观察到的口腔表型的发展中起主要作用。
    结论:MSUD的口腔健康似乎受到半合成饮食依赖和相关神经认知并发症的影响。量身定制的口腔健康促进干预措施应包括在MSUD患者的多学科管理中。
    OBJECTIVE: The literature about oral manifestations and dental management in maple syrup urine disease (MSUD) is sparse. The aim of this report is to present a new case of MSUD with special emphasis on oral findings and to review the relevant literature.
    METHODS: A case report of a 4-year-old boy with MSUD was described according to the CARE guidelines for describing case reports. Scoping review of relevant literature was performed, according to the PRISMA-ScR guidelines, by searching PubMed, Medline, Embase, and the grey literature for articles describing dental management and/or oral manifestations in MSUD.
    RESULTS: The initial search identified 219 articles, but only 4 met the inclusion criteria. Rampant caries and plaque induced gingivitis were the main oro-dental findings in MSUD. Other oral findings included enamel hypoplasia, skeletal abnormalities, and abnormal oral behaviors. Disease-related factors appeared to play a major role in the development of the observed oral phenotype.
    CONCLUSIONS: Oral health in MSUD seems to be influenced by the reliance on semi-synthetic diet and associated neurocognitive complications. Tailored oral health promotional interventions should be included in the multidisciplinary management of patients with MSUD.
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  • 文章类型: Journal Article
    特发性酮症性低血糖(IKH)定义为某些儿童在长时间禁食或患病后发生的血液或尿酮增加的低血糖发作。IKH分为生理性IKH,最常见于并发急性疾病的正常儿童和病理性IKH,常见于缺乏反调节激素的儿童或患有某些代谢疾病或Silver-Russell综合征的儿童。典型的患者是年龄在10个月至6岁之间的幼儿。事件几乎总是在过夜后的早晨发生。症状包括神经性糖减少症,酮症,或者两者兼而有之。在排除与KH相关的各种代谢和激素状况之后,可以诊断IKH。提供足量的碳水化合物和蛋白质,避免长时间禁食,增加喂食频率是IKH治疗的主线。了解IKH的发病机制以及区分生理性IKH和病理性IKH至关重要。在这个小型审查中,我们简要回顾了IKH的定义,类型,临床表现,,儿童IKH的诊断和治疗方法。
    Idiopathic ketotic hypoglycemia (IKH) is defined as bouts of hypoglycemia with increased blood or urine ketones in certain children after prolonged fasting or during illness. IKH is divided into physiological IKH, which is most frequently observed in normal children with intercurrent acute illness, and pathological IKH, which occurs in children who lack counter-regulatory hormones, have a metabolic disease, or have Silver-Russell syndrome. The typical patient is a young child between the ages of 10 months and 6 years. Episodes nearly always occur in the morning after overnight fasting. Symptoms include those of neuroglycopenia, ketosis, or both. IKH may be diagnosed after ruling out various metabolic and hormonal conditions associated with ketotic hypoglycemia. Sufficient amounts of carbohydrates and protein, avoidance of prolonged fasting, and increased frequency of food ingestion are the main modes of treating IKH. It is crucial to understand the pathogenesis of IKH and to distinguish physiological IKH from pathological IKH. In this mini-review, we present a brief summary of IKH in terms of its definition, types, clinical presentation, diagnosis, and therapeutic approach in children.
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  • 文章类型: Journal Article
    这个单中心病例系列描述了六例围产期低钠血症的妇女的表现和管理,这些妇女在分娩时被认为是低风险的。它突出了疲劳等症状,混乱和癫痫发作以及对新生儿的影响。它还侧重于感兴趣的领域,如液体摄入量,ADH和催产素的激素作用以及与分娩池的关联,以供将来研究。
    This single centre case series describes the presentation and management of six cases of peripartum hyponatraemia in women who were otherwise deemed low-risk at delivery. It highlights presenting symptoms such as fatigue, confusion and seizures as well as the effects on the neonate. It also focuses on areas of interest such as fluid intake, hormonal effects of ADH and oxytocin and the association with birthing pools for future research.
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  • 文章类型: Journal Article
    尿液分析是一种广泛使用的诊断工具,可帮助临床医生确定各种急性或慢性病变的病因。初级保健,一般内科,和家庭医学临床医生应该善于识别尿液透析的适应症,除了适当解释他们的结果。在这篇文章中,我们为非肾脏科医师提供尿液分析的概述.
    Urinalysis is a widely used diagnostic tool to assist clinicians in determining the etiology of various acute or chronic pathologies. Primary care, general internal medicine, and family medicine clinicians should be adept at identifying indications for urinalyses, in addition to appropriately interpreting their results. In this article, we provide an overview of urinalysis for non-nephrologists.
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  • 文章类型: Journal Article
    背景:妊娠剧吐(HEG)是妊娠早期严重的健康问题之一。产科医生应注意HEG患者的全身性炎症,以提供更好的预防策略。
    目的:妊娠剧吐(HEG)是妊娠早期住院的最常见原因之一。全血细胞计数参数可用作HEG患者的炎症标志物。我们旨在研究系统性免疫炎症指数(SII)在预测HEG严重程度中的作用。
    方法:这项横断面研究是对469名诊断为HEG并住院的孕妇进行的。根据完整的血细胞计数测试和尿液分析计算研究参数。人口特征,妊娠独特的呕吐定量(PUQE)量表值,并记录入院时的酮尿症水平.中性粒细胞与淋巴细胞之比(NLR),血小板与淋巴细胞比率(PLR),淋巴细胞与单核细胞比率(LMR),SII,按公式计算(中性粒细胞×血小板/淋巴细胞),评估了HEG的严重程度。
    结果:酮尿症的增加程度与SII呈正相关。预测HEG严重程度的SII临界值为1071.8(AUC0.637,95%CI(0.582-0.693),p<0.001),敏感性和特异性分别为59%和59%,分别。SII预测住院时间的临界值为1073.6(AUC:0.565,95%CI:(0.501-0.628),p=0.039);敏感性和特异性分别为56.3%和55.5%,分别。
    结论:由于敏感性和特异性相对较低,SII在预测HEG严重程度方面的临床应用有限。需要进一步的研究来确定炎症指标在HEG患者中的重要性。
    BACKGROUND: Hyperemesis gravidarum(HEG) is one of the severe health problems in early pregnancy. Obstetricians should be aware of systemic inflammation in HEG patients to provide better preventive strategies.
    OBJECTIVE: Hyperemesis gravidarum(HEG) is one of the most common causes of hospitalization in early pregnancy. Complete blood count parameters can be used as inflammatory markers in patients with HEG. We aimed to investigate the Systemic Immune-Inflammation Index (SII)in predicting the severity of HEG.
    METHODS: This cross-sectional study was performed with 469 pregnant women diagnosed and hospitalized with HEG. The study parameters were calculated from complete blood count tests and urine analysis. Demographic characteristics, the Pregnancy Unique Quantification of Emesis (PUQE) scale values, and ketonuria levels at hospital admission were recorded. The neutrophil‑to‑lymphocyte ratio (NLR), platelet‑to‑lymphocyte ratio (PLR), lymphocyte-to-monocyte ratio (LMR), and SII, calculated by the formula (neutrophil × platelet/lymphocyte), were evaluated for predicting the severity of HEG.
    RESULTS: There was a positive correlation between the increased degree of ketonuria and SII. The cut-off value of SII for predicting the severity of HEG was 1071.8 (AUC 0.637, 95% CI (0.582-0.693), p<0.001), and sensitivity and specificity were 59% and 59%, respectively. The cut-off value of SII to predict the length of hospitalization was 1073.6(AUC: 0.565, 95% CI: (0.501-0.628), p = 0.039); sensitivity and specificity were 56.3% and 55.5%, respectively.
    CONCLUSIONS: The clinical utility of SII in predicting HEG severity is limited due to relatively low sensitivity and specificity. Further research is needed to determine the importance of inflammatory indices in HEG patients.
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  • 文章类型: Journal Article
    目的:开发基于证据的常见产时尿路异常处理的临床算法。
    方法:单身女性,积极分娩和产后即刻的足月妊娠,低并发症风险。
    方法:低收入和中等收入国家的医疗设施。
    方法:对世卫组织现行指南进行了系统的检索和综述,Nice,ACOG和RCOG。截至2020年5月,在PubMed和Cochrane系统评论数据库上进行了额外的搜索。
    UNASSIGNED:选择了四种常见的产时尿异常:蛋白尿,酮尿症,糖尿和少尿。使用试剂条测试,糖尿定义为一次≥2+或两次或两次以上≥1+。蛋白尿定义为≥2+,酮的存在表明酮尿。少尿定义为每小时尿量≤30ml。使用历史记录进行彻底的初步评估,体检和基本调查有助于区分大多数根本原因,其中包括糖尿病,脱水,脓毒症,先兆子痫,震惊,贫血,阻碍劳动,潜在的心脏或肾脏问题。针对每种尿液异常开发了一种临床算法,以促进产时管理和复杂病例的转诊以进行专门护理。
    结论:四个简单的,我们开发了用户友好和循证的临床算法,以加强对产妇常见尿液异常的产时护理.这些算法可用于在处理正常和潜在复杂的分娩时支持医疗保健专业人员进行临床决策。特别是在资源匮乏的国家。
    结论:开发了基于证据的临床算法来指导常见的泌尿异常的产时管理。
    OBJECTIVE: To develop evidence-based clinical algorithms for management of common intrapartum urinary abnormalities.
    METHODS: Women with singleton, term pregnancies in active labour and immediate postnatal period, at low risk of complications.
    METHODS: Healthcare facilities in low- and middle-income countries.
    METHODS: A systematic search and review were conducted on the current guidelines from WHO, NICE, ACOG and RCOG. Additional search was done on PubMed and The Cochrane Database of Systematic Reviews up to May 2020.
    UNASSIGNED: Four common intrapartum urinary abnormalities were selected: proteinuria, ketonuria, glycosuria and oliguria. Using reagent strip testing, glycosuria was defined as ≥2+ on one occasion or of ≥1+ on two or more occasions. Proteinuria was defined as ≥2+ and presence of ketone indicated ketonuria. Oliguria was defined as hourly urine output ≤30 ml. Thorough initial assessment using history, physical examination and basic investigations helped differentiate most of the underlying causes, which include diabetes mellitus, dehydration, sepsis, pre-eclampsia, shock, anaemia, obstructed labour, underlying cardiac or renal problems. A clinical algorithm was developed for each urinary abnormality to facilitate intrapartum management and referral of complicated cases for specialised care.
    CONCLUSIONS: Four simple, user-friendly and evidence-based clinical algorithms were developed to enhance intrapartum care of commonly encountered maternal urine abnormalities. These algorithms may be used to support healthcare professionals in clinical decision-making when handling normal and potentially complicated labour, especially in low resource countries.
    CONCLUSIONS: Evidence-based clinical algorithms developed to guide intrapartum management of commonly encountered urinary abnormalities.
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  • 文章类型: Journal Article
    目的:妊娠剧吐是一种开始于妊娠早期并表现为口服摄入问题的疾病,电解质不平衡,酮尿症,和减肥。炎症与妊娠剧吐密切相关,和炎症指标已被研究以了解其病理生理学。这项研究调查了酮症尿症水平与炎症标志物血小板淋巴细胞比率(PLR)的关系,单核细胞与淋巴细胞比率(MLR),妊娠剧吐患者的中性粒细胞与淋巴细胞比率(NLR)。
    方法:这项回顾性病例对照研究于2019年12月至2020年12月在Kutahya医科大学三级研究和培训医院进行。共有173次怀孕,研究中包括82例妊娠剧吐和91例低风险妊娠。记录患者的人口统计学特征和实验室参数。将患者分为妊娠剧吐组和对照组,并比较两组的炎症标志物水平。对于妊娠剧吐组,研究了酮尿症水平与炎症严重程度之间的关系.
    结果:MLR,NLR,妊娠剧吐组的PLR水平高于对照组,具有统计学意义(所有比较的p<0.001)。妊娠剧吐组根据酮尿症水平分为四组,和他们的MLR,NLR,比较PLR水平。组间差异有统计学意义(p<0.001),且指标随着酮尿症水平的增加而增加。最后,酮尿症水平与MLR呈正相关(rho=0.67,p<0.001),PLR(rho=0.67,p<0.001),和NLR(rho=0.8,p<0.001)。
    结论:妊娠剧吐患者血液炎症指标水平高于健康孕妇。对于这些患者来说,指标水平随着酮尿症水平的增加而增加。
    OBJECTIVE: Hyperemesis gravidarum is an illness that starts in early pregnancy and manifests itself with oral intake problems, electrolyte imbalance, ketonuria, and weight loss. Inflammation is closely associated with the hyperemesis gravidarum, and inflammatory indicators have been studied to understand its pathophysiology. This study investigates the relationship of ketonuria levels with inflammatory markers platelet-to-lymphocyte ratio (PLR), monocyte-to-lymphocyte ratio (MLR), and neutrophil-to-lymphocyte ratio (NLR) for hyperemesis gravidarum patients.
    METHODS: This retrospective case control study was conducted at Kütahya Medical Sciences University Tertiary Research and Training Hospital between December 2019 and December 2020. A total of 173 pregnancies, 82 of them with hyperemesis gravidarum and 91 of them low-risk pregnancies were included in the study. The patients\' demographic profiles and laboratory parameters were recorded. The patients were divided into hyperemesis gravidarum and control groups and the groups were compared for the levels of inflammation markers. For the hyperemesis gravidarum group, the relationship between ketonuria levels and the inflammation severity was investigated.
    RESULTS: MLR, NLR, PLR levels were higher in the hyperemesis gravidarum group than the control group in a statistically significant way (p < 0.001 for all of the comparisons). The hyperemesis gravidarum group was subdivided into four groups based on their ketonuria levels, and their MLR, NLR, PLR levels were compared. The differences between the groups were statistically significant (p < 0.001) and the indicators increased with the ketonuria levels. Finally, ketonuria levels had a positive and significant correlation with MLR (rho =0.67, p < 0.001), PLR (rho =0.67, p < 0.001), and NLR (rho =0.8, p < 0.001).
    CONCLUSIONS: Hyperemesis gravidarum patients have higher levels of hematologic inflammation indicators than healthy pregnant patients. For these patients, the levels of the indicators increase with ketonuria levels.
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  • 文章类型: Case Reports
    新生儿高氨血症的组合,乳酸性酸中毒,酮尿症,低血糖是碳酸酐酶VA(CA-VA)缺乏症的病理特征。我们介绍了这种罕见的先天性代谢错误的两种情况。两名具有南亚血统的新生儿均表现为高氨血症的代谢失代偿,乳酸性酸中毒和酮尿症;一个也有低血糖。标准代谢调查(血浆氨基酸,酰基肉碱简介,和尿有机酸)不能指示特定的有机酸尿症或脂肪酸氧化缺陷,但与尿素循环障碍(谷氨酰胺升高,乳清酸,和低精氨酸)。高氨血症最初是用氮清除剂和海藻酸治疗的。一名患者需要血液透析。两者在最初的代谢代偿后都有良好的长期预后。遗传测试证实了由于CA5A中的双等位基因致病变异而导致的碳酸酐酶VA(CA-VA)缺乏症的诊断。这些病例与文献中先前描述的15例病例一致,使表型表现为这种异常(可能未诊断)的先天性代谢错误,预后良好。
    The combination of neonatal hyperammonemia, lactic acidosis, ketonuria, and hypoglycemia is pathognomonic for carbonic anhydrase VA (CA-VA) deficiency. We present two cases of this rare inborn error of metabolism. Both newborns with South Asian ancestry presented with a metabolic decompensation characterized by hyperammonemia, lactic acidosis and ketonuria; one also had hypoglycemia. Standard metabolic investigations (plasma amino acids, acylcarnitine profile, and urine organic acids) were not indicative of a specific organic aciduria or fatty acid oxidation defect but had some overlapping features with a urea cycle disorder (elevated glutamine, orotic acid, and low arginine). Hyperammonemia was treated initially with nitrogen scavenger therapy and carglumic acid. One patient required hemodialysis. Both have had a favorable long-term prognosis after their initial metabolic decompensation. Genetic testing confirmed the diagnosis of carbonic anhydrase VA (CA-VA) deficiency due to biallelic pathogenic variants in CA5A. These cases are in line with 15 cases previously described in the literature, making the phenotypic presentation pathognomonic for this ultrarare (potentially underdiagnosed) inborn error of metabolism with a good prognosis.
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  • 文章类型: Journal Article
    OBJECTIVE: To assess the association between ketonuria and hyperemesis gravidarum (HG) disease severity.
    METHODS: We included pregnant women hospitalised for HG who participated in the Maternal and Offspring outcomes after Treatment of HyperEmesis by Refeeding (MOTHER) trial and women who were eligible, chose not to be randomised and agreed to participate in the observational cohort. Between October 2013 and March 2016, in 19 hospitals in the Netherlands, women hospitalised for HG were approached for study participation. The presence of ketonuria was not required for study entry. Ketonuria was measured at hospital admission with a dipstick, which distinguishes 5 categories: negative and 1+ through 4 + . The outcome measures were multiple measures of HG disease severity at different time points: 1) At hospital admission (study entry): severity of nausea and vomiting, quality of life and weight change compared to pre-pregnancy weight, 2) One week after hospital admission: severity of nausea and vomiting, quality of life and weight change compared to admission, 3) Duration of index hospital admission and readmission for HG at any time point RESULTS: 215 women where included. Ketonuria was not associated with severity of nausea and vomiting, quality of life or weight loss at hospital admission, nor was the degree of ketonuria at admission associated with any of the outcomes 1 week after hospital admission. The degree of ketonuria was also not associated with the number of readmissions. However, women with a higher degree of ketonuria had a statistically significant longer duration of hospital stay (per 1+ ketonuria, difference: 0.27 days, 95 % CI: 0.05 to 0.48).
    CONCLUSIONS: There was no association between the degree of ketonuria at admission and severity of symptoms, quality of life, maternal weight loss, or number of readmissions, suggesting that ketonuria provides no information about disease severity or disease course. Despite this, women with a higher degree of ketonuria at admission were hospitalised for longer. This could suggest that health care professionals base length of hospital stay on the degree of ketonuria. Based on the lack of association between ketonuria and disease severity, we suggest it has no additional value in the clinical management of HG.
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