primary hyperparathyroidism

原发性甲状旁腺功能亢进
  • 文章类型: Systematic Review
    背景:妊娠期原发性甲状旁腺功能亢进(PHPT)诱导的急性胰腺炎(AP)很少被描述。由于这种稀有性,妊娠患者没有诊断或治疗算法。
    目的:为了确定适当的诊断方法,治疗选择,以及PHPT诱导的妊娠AP的母婴结局相关因素。
    方法:对英文文章的文献检索,日本人,德语,西班牙语,意大利语是使用PubMed(1946-2023)进行的,PubMedCentral(1900-2023),谷歌学者。遵循系统评价和荟萃分析(PRISMA)方案的首选报告项目。搜索词包括“胰腺磷灰石,\“\”辅助原色,\"\"gravidanza,\"\"Travaglio,\"\"purerperio,“产后,\"\"akute胰腺炎,\“\”primärerhyperparathyreoidmuss,\"\"Schwangerschaft,\"\"Wehen,\"\"Wochenbett,\"\"胰腺炎阿古达,\"\"hiperparatiroidisphismoprimario,\"\"embarazo,\"\"parto,\"\"purerperio,\"\"posparto,急性胰腺炎,\"\"原发性甲状旁腺功能亢进,\"\"怀孕,\“\”劳动,\"\"产褥期,“和”产后。“通过回顾检索到的研究的参考列表,确定了其他研究。人口统计,成像,外科,产科,并获得结果数据。
    结果:从51项研究中收集了54例病例。产妇年龄中位数为29岁。PHPT诱导的AP在第20孕周开始;死亡的母亲的孕周较高(平均孕周28)。淀粉酶中值(1399,Q1-Q3=519-2072),脂肪酶(2072,Q1-Q3=893-2804),血清钙(3.5,Q1-Q3=3.1-3.9),和甲状旁腺激素(PTH)(384,Q1-Q3=123-910)报告。在46个案例中,腺瘤是PHPT的病因,其次是癌2例,增生1例。其余5例,没有报告诊断。颈部超声阳性34例,而Sestamibi在3例中进行了治疗,9例进行了颈部计算机断层扫描或磁共振成像(3例甲状旁腺扩大未定位)。手术是妊娠期间的首选治疗方法33例(妊娠中位周25,Q1-Q3=20-30),产后12例。其余9例没有报告时间,或未进行手术。手术治疗AP11例,保守治疗43例(79.6%)。孕产妇和胎儿死亡率为9.3%(5例)。手术在已故母亲中更为常见(60.0%vs16.3%;P=0.052),和PTH值在该组中倾向于更高(910pg/mL对302pg/mL;P=0.059)。血清脂肪酶水平较高和分娩周较早,孕产妇死亡率较高。较高的钙(4.1mmol/L比3.3mmol/L;P=0.009)和PTH(1914pg/mL比302pg/mL;P=0.003)值增加了胎儿/儿童死亡率,以及流产(40.0%vs0.0%;P=0.007)和复杂分娩(60.0%vs8.2%;P=0.01)。
    结论:如果入院期间未检测血清钙,妊娠PHPT诱导的AP的明确诊断延迟,而早期诊断和立即干预可导致良好的母婴结局。
    BACKGROUND: Primary hyperparathyroidism (PHPT)-induced acute pancreatitis (AP) during pregnancy has rarely been described. Due to this rarity, there are no diagnostic or treatment algorithms for pregnant patients.
    OBJECTIVE: To determine appropriate diagnostic methods, therapeutic options, and factors related to maternal and fetal outcomes for PHPT-induced AP in pregnancy.
    METHODS: A literature search of articles in English, Japanese, German, Spanish, and Italian was performed using PubMed (1946-2023), PubMed Central (1900-2023), and Google Scholar. The Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) protocol was followed. The search terms included \"pancreatite acuta,\" \"iperparatiroidismo primario,\" \"gravidanza,\" \"travaglio,\" \"puerperio,\" \"postpartum,\" \"akute pankreatitis,\" \"primärer hyperparathyreoidismus,\" \"Schwangerschaft,\" \"Wehen,\" \"Wochenbett,\" \"pancreatitis aguda,\" \"hiperparatiroidismo primario,\" \"embarazo,\" \"parto,\" \"puerperio,\" \"posparto,\" \"acute pancreatitis,\" \"primary hyperparathyroidism,\" \"pregnancy,\" \"labor,\" \"puerperium,\" and \"postpartum.\" Additional studies were identified by reviewing the reference lists of retrieved studies. Demographic, imaging, surgical, obstetric, and outcome data were obtained.
    RESULTS: Fifty-four cases were collected from the 51 studies. The median maternal age was 29 years. PHPT-induced AP starts at the 20th gestational week; higher gestational weeks were seen in mothers who died (mean gestational week 28). Median values of amylase (1399, Q1-Q3 = 519-2072), lipase (2072, Q1-Q3 = 893-2804), serum calcium (3.5, Q1-Q3 = 3.1-3.9), and parathormone (PTH) (384, Q1-Q3 = 123-910) were reported. In 46 cases, adenoma was the cause of PHPT, followed by 2 cases of carcinoma and 1 case of hyperplasia. In the remaining 5 cases, the diagnosis was not reported. Neck ultrasound was positive in 34 cases, whereas sestamibi was performed in 3 cases, and neck computed tomography or magnetic resonance imaging was performed in 9 cases (the enlarged parathyroid gland was not localized in 3 cases). Surgery was the preferred treatment during pregnancy in 33 cases (median week of gestation 25, Q1-Q3 = 20-30) and postpartum in 12 cases. The timing was not reported in the remaining 9 cases, or surgery was not performed. AP was managed surgically in 11 cases and conservatively in 43 (79.6%) cases. Maternal and fetal mortality was 9.3% (5 cases). Surgery was more common in deceased mothers (60.0% vs 16.3%; P = 0.052), and PTH values tended to be higher in this group (910 pg/mL vs 302 pg/mL; P = 0.059). Maternal mortality was higher with higher serum lipase levels and earlier delivery week. Higher calcium (4.1 mmol/L vs 3.3 mmol/L; P = 0.009) and PTH (1914 pg/mL vs 302 pg/mL; P = 0.003) values increased fetal/child mortality, as well as abortions (40.0% vs 0.0%; P = 0.007) and complex deliveries (60.0% vs 8.2%; P = 0.01).
    CONCLUSIONS: If serum calcium is not tested during admission, definitive diagnosis of PHPT-induced AP in pregnancy is delayed, while early diagnosis and immediate intervention lead to excellent maternal and fetal outcomes.
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  • 文章类型: Journal Article
    背景:以减少20倍的MIBI同位素剂量进行MIRP手术可以降低患者和工作人员的辐射暴露风险,并降低手术的总成本。本系统综述和荟萃分析的主要目的是证明极低剂量MIRP与标准剂量相比的非劣效性。
    方法:我们对三个不同的电子数据库——PubMed,WebofScience和谷歌学者。根据PRISMA指南进行Meta提取。
    结果:在导入筛查的4750项研究中,仅选择了13项研究进行荟萃分析.用低剂量MIRP进行的13项选定研究的分析数据表明,检出率大于97%,成功率大于95%。这与当前指南要求的治愈率相当,以及使用原始高剂量方案的研究发表的数据。
    结论:极低剂量MIRP不逊于高剂量原始MIRP,可常规用于单独的日方案。
    BACKGROUND: Performing MIRP procedure with a 20-fold less MIBI isotope dose allows lower radiation exposure risk for both patient and staff and reduce the overall cost of the procedure. The main goal of this systemic review and meta-analysis is to prove the non-inferiority of the very low dose MIRP compared to the standard dose.
    METHODS: We performed a systemic review and meta-analysis of three different electronic databases - PubMed, Web of Science and google scholar. Meta-extraction was conducted in accordance with PRISMA guidelines.
    RESULTS: Among 4750 studies imported for screening, only 13 studies were selected for the meta-analysis. Analyzed data from the 13 selected studies performed with low dose MIRP demonstrated a detection rate greater than 97 ​% and a success rate greater than 95 ​%, which is comparable to the cure rate required by current guidelines, as well as to data published by studies using the original high dose protocol.
    CONCLUSIONS: Very low dose MIRP is not inferior to the high dose original MIRP and may be used in separate day protocol routinely.
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  • 文章类型: Journal Article
    根据生化改变和临床表现怀疑甲状旁腺病理,成像在原发性甲状旁腺功能亢进中的主要作用是肿瘤在甲状旁腺内的定位,手术计划,并在复发性疾病的背景下寻找任何异位甲状旁腺组织。本文对甲状旁腺的胚胎学和解剖学变异及其临床相关性进行了全面的综述,甲状旁腺的外科解剖,多腺甲状旁腺疾病之间的区别,孤立性腺瘤,非典型甲状旁腺肿瘤,和甲状旁腺癌.角色,超声波的优点和局限性,四维计算机断层扫描(4DCT),放射性标记的tech-99(99mTc)sestamibi或双示踪剂99mTc高tech酸盐和99mTc-sestamibi,有或没有单光子发射计算机断层扫描(SPECT)或SPECT/CT,动态增强磁共振成像(4DMRI),本文广泛讨论了氟胆碱正电子发射断层扫描(18F-FCHPET)或[11C]蛋氨酸(11C-MET)PET在甲状旁腺病变的管理。本文还阐明了氟脱氧葡萄糖PET(FDG-PET)的作用。还描述了美国临床肿瘤学会(ASCO)提出的甲状旁腺癌的管理指南。最后提供了一种用于管理甲状旁腺病变的算法,可作为放射科医生的快速参考指南。临床医生和外科医生。
    Parathyroid pathologies are suspected based on the biochemical alterations and clinical manifestations, and the predominant roles of imaging in primary hyperparathyroidism are localisation of tumour within parathyroid glands, surgical planning, and to look for any ectopic parathyroid tissue in the setting of recurrent disease. This article provides a comprehensive review of embryology and anatomical variations of parathyroid glands and their clinical relevance, surgical anatomy of parathyroid glands, differentiation between multiglandular parathyroid disease, solitary adenoma, atypical parathyroid tumour, and parathyroid carcinoma. The roles, advantages and limitations of ultrasound, four-dimensional computed tomography (4DCT), radiolabelled technetium-99 (99mTc) sestamibi or dual tracer 99mTc pertechnetate and 99mTc-sestamibi with or without single photon emission computed tomography (SPECT) or SPECT/CT, dynamic enhanced magnetic resonance imaging (4DMRI), and fluoro-choline positron emission tomography (18F-FCH PET) or [11C] Methionine (11C -MET) PET in the management of parathyroid lesions have been extensively discussed in this article. The role of fluorodeoxyglucose PET (FDG-PET) has also been elucidated in this article. Management guidelines for parathyroid carcinoma proposed by the American Society of Clinical Oncology (ASCO) have also been described. An algorithm for management of parathyroid lesions has been provided at the end to serve as a quick reference guide for radiologists, clinicians and surgeons.
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  • 文章类型: Journal Article
    原发性甲状旁腺功能亢进的主要治疗包括甲状旁腺切除术,这取决于受影响的甲状旁腺的数量和资源的可用性,可能涉及双侧颈部探查与四个腺体评估或微创,聚焦甲状旁腺切除术(FP)需要术前定位。后者的可行性尚未在发展中国家得到证明。
    对过去15年(2007年及以后)的已发表文献进行了范围审查。文章经过筛选,只有在讨论FP的情况下才包括在内,术前定位,经济影响,它们起源于发展中国家(中高收入或中低收入)。
    共有18篇文章符合纳入标准,包括七个发展中国家(两个中上收入国家和五个中低收入国家)。所有研究均进行了术前定位,超声的总体准确率为75.5%,99mTcsestamibi的总体准确率为85.7%。共有1,202名患者(70%)患有FP。550例患者在没有术中辅助的情况下接受了FP,647例患者在术中辅助的情况下接受了FP,调整后的治愈率分别为95.3%和99.2%。FP的总治愈率为96.4%。
    有了准确的术前定位和良好的治愈率,有或没有术中辅助,我们得出结论,FP在发展中国家是可行的。
    UNASSIGNED: The mainstay of treatment of primary hyperparathyroidism involves a parathyroidectomy, which depending on the number of affected parathyroid glands and the availability of resources, may involve a bilateral neck exploration with four gland assessment or a minimally invasive, focused parathyroidectomy (FP) necessitating pre-operative localisation. The feasibility of the latter is yet to be demonstrated in developing countries.
    UNASSIGNED: A scoping review was performed with published literature evaluated from the past 15 years (2007 & onwards). Articles were screened and only included if they discussed FP, preoperative localisation, economic impact and they originated from a developing country (upper middle or lower middle-income).
    UNASSIGNED: A total of 18 articles met the inclusion criteria, comprising seven developing countries (two upper middle-income and five lower middle-income countries). Preoperative localisation was performed in all studies, with overall accuracy rates of 75.5% for ultrasound and 85.7% for 99mTc sestamibi. A total 1,202 patients (70%) had FP. Five hundred and fifty-five patients underwent FP without intraoperative adjuncts and 647 underwent FP with intraoperative adjuncts, with adjusted cure rates of 95.3% and 99.2% respectively. Overall cure rate for FP was 96.4%.
    UNASSIGNED: With access to accurate preoperative localisation and excellent cure rates with and without intraoperative adjuncts, we conclude that FP is feasible in developing countries.
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  • 文章类型: Journal Article
    目的:妊娠期原发性甲状旁腺功能亢进(PHPT)的治疗可以是手术治疗,也可以是保守治疗。这项研究比较了手术和非手术治疗的不良结果。此外,这项研究调查了血清钙值与并发症发生率之间的相关性。
    方法:回顾性研究的系统综述,案例系列,和病例报告。生化参数,干预措施,并记录每次妊娠的结局.研究人群包括两组:非手术组和手术组。不良结局被归类为孕产妇,产科,或新生儿。
    结果:手术组和非手术组分别为163和185例患者,分别。孕妇平均孕钙值与母婴并发症呈正相关。在所有母体钙值中保守治疗的患者中,新生儿并发症更为普遍(p<0.001)。研究组之间的产妇结局和总体产科结局没有显着差异,尽管手术组的平均血清钙值(12.3mg/dL)高于非手术组(11.1mg/dL)。
    结论:鉴于非手术组新生儿不良结局明显低于手术组,除了手术组的非劣质孕产妇和产科结果,本研究的总体数据表明,即使在轻度高钙血症的情况下,甲状旁腺切除术也有利于非手术治疗.
    OBJECTIVE: The management of primary hyperparathyroidism (PHPT) during pregnancy may be surgical or conservative. This study compared adverse outcomes between surgical and non-surgical treatments. Additionally, the study investigated the correlation between serum calcium values and complication rates.
    METHODS: A systematic review of retrospective studies, case series, and case reports. Biochemical parameters, interventions, and outcomes of each pregnancy were recorded. The study population comprised two groups: the non-surgical and surgical groups. Adverse outcomes were categorized as maternal, obstetric, or neonatal.
    RESULTS: The surgical and non-surgical groups consisted of 163 and 185 patients, respectively. A positive correlation was observed between the mean maternal gestational calcium value and both maternal and obstetric complication. Neonatal complications were more prevalent in patients treated conservatively across all maternal calcium values (p < 0.001). No significant differences were observed in maternal outcomes and overall obstetric outcomes between the study groups, albeit a higher mean serum calcium value in the surgical group (12.3 mg/dL) compared with the non-surgical group (11.1 mg/dL).
    CONCLUSIONS: Given the significantly lower neonatal adverse outcomes in the surgical group compared to the non-surgical group, along with non-inferior maternal and obstetric outcomes in the surgical group, the overall data of this study suggest that parathyroidectomy is favorable to non-surgical management even in cases of mild hypercalcemia.
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  • 文章类型: Journal Article
    高钙血症是一种罕见的治疗紧急情况。然而,它不应该被忽视,特别是在怀孕期间,因为它与显著的孕产妇和胎儿发病率和死亡率相关。最常见的病因,包括孕妇,是原发性甲状旁腺功能亢进。了解怀孕期间的磷酸钙代谢对于理解和解释甲状旁腺病理学中观察到的临床病理异常很重要。尽管欧洲内分泌学会发表了有关甲状旁腺病理学的专家共识声明,高钙血症危机的管理仍然缺乏编纂,尤其是孕妇。通常不建议在怀孕期间进行诊断检查和低钙血症治疗;但是,可能有必要优化手术准备。值得注意的是,手术是治疗的首选,特别是在怀孕期间,理想情况下应该在孕中期进行。因此,多学科方法是必要的。欧洲专家的共识建议在妊娠早期系统地早期检测高钙血症。
    A hypercalcemic crisis is a rare therapeutic emergency. However, it should not be overlooked, particularly during pregnancy, as it is associated with significant maternal and fetal morbidity and mortality. The most frequent etiology, including in pregnant women, is primary hyperparathyroidism. Knowledge of calcium-phosphate metabolism during pregnancy is important for understanding and interpreting the clinicopathological abnormalities observed in parathyroid pathology. Despite the expert consensus statement on parathyroid pathology issued by the European Society of Endocrinology, management of hypercalcemic crises remains poorly codified, particularly in pregnant women. Diagnostic examinations and hypocalcemia treatments are generally not recommended during pregnancy; however, it may be necessary to optimize preparation for surgery. Notably, surgery is the treatment of choice, particularly during pregnancy, when it should ideally be performed during the 2nd trimester. Therefore, a multidisciplinary approach is necessary. A consensus among European experts recommends systematic early detection of hypercalcemia during early pregnancy.
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  • 文章类型: Systematic Review
    背景:甲状旁腺激素(PTH)过量与心血管疾病(CVD)风险增加相关。
    目的:我们旨在评估原发性甲状旁腺功能亢进(PHPT)与CVD或心血管(CV)死亡之间的相关性。
    方法:PubMed的全面搜索,Embase和ClinicalTrials.gov至2023年5月20日,带有以下关键字:“原发性甲状旁腺功能亢进症,心血管疾病,“和”死亡率。
    方法:将PHPT患者与普通人群以及接受甲状旁腺切除术(PTX)的患者与未接受甲状旁腺切除术的患者进行比较的队列研究和随机对照试验。
    方法:三名研究者独立提取数据并评估研究质量。
    结果:确定了11项队列研究和一项随机对照试验,包括264,227名患有或不患有PTX的PHPT患者,研究报告的平均年龄为62岁。PHPT与总死亡(RR1.39[95%置信区间(CI)1.23-1.57)和CV死亡(RR1.61[95%CI1.47-1.78])的风险高于一般人群。然而,PHPT患者和普通人群的CVD风险无显著差异(RR1.73[95%CI0.87-3.47]).与没有PTX的患者相比,PTX的心血管死亡风险较低(RR0.75[95%CI0.71-0.80]),总死亡(RR0.64[95%CI0.60-0.70])和CVD(RR0.92[95%CI0.90-0.94])。
    结论:纳入的文章具有高度异质性,其中大多数是回顾性研究和较早的研究。
    结论:PHPT与更高的总死亡和CV死亡风险相关,而PTX与更低的总死亡风险相关。CV死亡,和CVD。
    BACKGROUND: Excess parathyroid hormone (PTH) is associated with an increased risk of cardiovascular disease (CVD).
    OBJECTIVE: We aimed to evaluate the correlation between primary hyperparathyroidism (PHPT) and CVD or cardiovascular (CV) death.
    METHODS: Comprehensive searches of PubMed, Embase and ClinicalTrials.gov until May 20, 2023 with the following keywords: \"primary hyperparathyroidism,\" \"cardiovascular disease,\" and \"mortality.\"
    METHODS: Cohort studies and randomized controlled trials comparing PHPT patients to the general population and those who had received parathyroidectomy (PTX) to those who did not.
    METHODS: Three investigators independently extracted data and assessed study quality.
    RESULTS: Eleven cohort studies and one randomized controlled trial were identified, including 264,227 PHPT patients with or without PTX, and the average age reported in the studies was 62 years. PHPT was associated with a higher risk of total death (RR 1.39 [95 % confidence interval (CI) 1.23-1.57) and CV death (RR 1.61 [95 % CI 1.47-1.78]) than the general population. However, there was no significant difference in CVD risk between patients with PHPT and the general population (RR 1.73 [95 % CI 0.87-3.47]). When compared to patients without PTX, PTX had a lower risk of CV death (RR 0.75 [95 % CI 0.71-0.80]), total death (RR 0.64 [95 % CI 0.60-0.70]) and CVD (RR 0.92 [95 % CI 0.90-0.94]).
    CONCLUSIONS: High heterogeneity among the included articles, and most of them were retrospective and older studies.
    CONCLUSIONS: PHPT was associated with higher risk of total death and CV death while PTX was associated with lower risk of total death, CV death, and CVD.
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  • 文章类型: Systematic Review
    本研究旨在评估原发性甲状旁腺功能亢进(PHPT)患者中恶性肿瘤的患病率和风险。从PubMed和Embase数据库开始至2023年11月,使用由“原发性甲状旁腺功能亢进症”和“恶性肿瘤”组成的搜索策略,检索了可能符合条件的研究。符合条件的研究必须报告PHPT患者中恶性肿瘤的患病率或比较PHPT患者与比较者之间恶性肿瘤的风险。从每个研究中提取具有标准误差的点估计,并使用通用逆方差方法进行组合。共确定了11926篇文章。经过两轮系统审查,包括50项研究。荟萃分析显示,总体癌症的合并患病率为0.19(95CI:0.13-0.25;I294%)。PHPT患者中两种最常见的恶性肿瘤类型为甲状腺乳头状癌(合并患病率:0.07;95CI:0.06-0.08;I285%)和乳腺癌(合并患病率:0.05;95CI:0.03-0.07;I287%)。针对接受甲状旁腺切除术患者的亚组分析报告,甲状腺乳头状癌的患病率比其余研究高四倍(0.08对0.02)。队列研究的荟萃分析发现,PHPT与总体癌症之间存在显着关联,合并风险比为1.28(95CI:1.23-1.33;I266.9%)。我们发现PHPT中恶性肿瘤的合并患病率为19%,甲状腺乳头状癌和乳腺癌是最常见的类型。队列研究的荟萃分析显示,PHPT患者的恶性肿瘤风险增加约28%。
    This study aimed to evaluate the prevalence and risk of malignant neoplasm in primary hyperparathyroidism (PHPT) patients. Potentially eligible studies were retrieved from PubMed and Embase databases from inception to November 2023 using search strategy consisting of terms for \"Primary hyperparathyroidism\" and \"Malignant neoplasm\". Eligible study must report prevalence of malignant neoplasm among patients with PHPT or compare the risk of malignant neoplasm between patients with PHPT and comparators. Point estimates with standard errors were extracted from each study and combined using the generic inverse variance method.A total of 11,926 articles were identified. After two rounds of systematic review, 50 studies were included. The meta-analysis revealed that pooled prevalence rates of overall cancer was 0.19 (95%CI: 0.13-0.25; I2 94%). The two most prevalent types of malignancy among patients with PHPT ware papillary thyroid cancer (pooled prevalence: 0.07; 95%CI: 0.06-0.08; I2 85%) and breast cancer (pooled prevalence: 0.05; 95%CI: 0.03-0.07; I2 87%). Subgroup analysis of studies focusing on patients undergoing parathyroidectomy reported a fourfold higher prevalence of papillary thyroid cancer than the remaining studies (0.08 versus 0.02). The meta-analysis of cohort studies found a significant association between PHPT and overall cancer with the pooled risk ratio of 1.28 (95%CI: 1.23-1.33; I2 66.9%).We found that the pooled prevalence of malignant neoplasm in PHPT was 19%, with papillary thyroid cancer and breast cancer being the most prevalent types. The meta-analysis of cohort studies showed that patient with PHPT carried an approximately 28% increased risk of malignancy.
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  • 文章类型: Case Reports
    24-羟化酶,由CYP24A1基因编码,是参与维生素D分解代谢的关键酶。CYP24A1中的功能丧失突变导致PTH非依赖性高钙血症,并具有高水平的1,25(OH)2D3。临床表现的多样性取决于年龄,潜在的遗传易感性突变会导致新生儿致命的婴儿高钙血症,而成人症状通常是轻微的。
    我们报告了一例罕见的成人原发性甲状旁腺功能亢进和CYP24A1基因功能丧失突变病例,并对类似病例进行了回顾。
    我们报告了一例58岁女性,最初诊断为原发性甲状旁腺功能亢进。术前,通过超声检查发现了与甲状腺左叶上极相邻的可疑肿块,并通过99mTc闪烁显像和活检证实为甲状旁腺。患者接受了甲状旁腺切除术(组织病理学报告显示甲状旁腺腺瘤),导致了正常钙血症.10个月后,维生素D补充剂是由于缺乏而引入的,钙水平保持在参考范围内。两年后,生化检查显示高钙血症复发,甲状旁腺激素水平降低,1,25(OH)2D3浓度升高.进一步的调查排除了PTH非依赖性高钙血症的最常见原因,如肉芽肿病,恶性肿瘤,和维生素D中毒。随后,使用LC-MS/MS测量维生素D代谢物,这表明高水平的25(OH)D3,低水平的24,25(OH)2D3和升高的25(OH)2D3/24,25(OH)2D3比率,提示维生素D分解代谢缺陷.使用NGS技术对CYP24A1基因进行的分子分析揭示了两种致病变体:p。(Arg396Trp)和p。(Glu143del)(分别为rs114368325和rs777676129)。
    当多种原因共存时,高钙血症的诊断过程变得复杂。使用LC-MS/MS测量维生素D代谢物可能有助于鉴定CYP24A1突变的携带者。随后的分子检测可能有助于确定CYP24A1基因致病变异的确切频率并引入个性化治疗。
    UNASSIGNED: 24-Hydroxylase, encoded by the CYP24A1 gene, is a crucial enzyme involved in the catabolism of vitamin D. Loss-of-function mutations in CYP24A1 result in PTH-independent hypercalcaemia with high levels of 1,25(OH)2D3. The variety of clinical manifestations depends on age, and underlying genetic predisposition mutations can lead to fatal infantile hypercalcaemia among neonates, whereas adult symptoms are usually mild.
    UNASSIGNED: We report a rare case of an adult with primary hyperparathyroidism and loss-of-function mutations in the CYP24A1 gene and a review of similar cases.
    UNASSIGNED: We report the case of a 58-year-old woman diagnosed initially with primary hyperparathyroidism. Preoperatively, the suspected mass adjoining the upper pole of the left lobe of the thyroid gland was found via ultrasonography and confirmed by 99mTc scintigraphy and biopsy as the parathyroid gland. The patient underwent parathyroidectomy (a histopathology report revealed parathyroid adenoma), which led to normocalcaemia. After 10 months, vitamin D supplementation was introduced due to deficiency, and the calcium level remained within the reference range. Two years later, biochemical tests showed recurrence of hypercalcaemia with suppressed parathyroid hormone levels and elevated 1,25(OH)2D3 concentrations. Further investigation excluded the most common causes of PTH-independent hypercalcaemia, such as granulomatous disease, malignancy, and vitamin D intoxication. Subsequently, vitamin D metabolites were measured using LC-MS/MS, which revealed high levels of 25(OH)D3, low levels of 24,25(OH)2D3 and elevated 25(OH)2D3/24,25(OH)2D3 ratios, suggesting a defect in vitamin D catabolism. Molecular analysis of the CYP24A1 gene using the NGS technique revealed two pathogenic variants: p.(Arg396Trp) and p.(Glu143del) (rs114368325 and rs777676129, respectively).
    UNASSIGNED: The diagnostic process for hypercalcaemia becomes complicated when multiple causes of hypercalcaemia coexist. The measurement of vitamin D metabolites using LC-MS/MS may help to identify carriers of CYP24A1 mutations. Subsequent molecular testing may contribute to establishing the exact frequency of pathogenic variants of the CYP24A1 gene and introducing personalized treatment.
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  • 文章类型: Journal Article
    目标:目前,甲状旁腺切除术与客观神经精神结局之间的关系尚不明确.本研究的目的是对原发性甲状旁腺功能亢进症患者行甲状旁腺切除术的术前和术后PHQ-9和GAD-7评分进行首次Meta分析,目的是确定可用作手术干预指征的特定心理评分。
    方法:使用PubMed对文献进行了全面搜索,Embase,PsycINFO,WebofScience,和Ovid所有EBM评论。
    方法:如果评估原发性甲状旁腺功能亢进患者行甲状旁腺切除术的术前和术后PHQ-9和/或GAD-7评分,则研究符合纳入标准。随机效应Meta分析用于分析收集的数据。
    结果:文献检索返回了1433篇文章进行初步审查,其中6篇(1105名参与者)符合纳入和Meta分析的标准。荟萃分析显示,与对照组相比,原发性甲状旁腺功能亢进症患者的术前PHQ-9评分明显更高。此外,甲状旁腺切除术后患者的PHQ-9评分有统计学意义且持续下降.值得注意的是,甲状旁腺切除术后PHQ-9评分≥10(被认为对抑郁症有临床意义)的患者比例显著下降.
    结论:原发性甲状旁腺功能亢进患者在甲状旁腺切除术后PHQ-9评分有统计学意义的持续改善。此外,甲状旁腺切除术后,焦虑和自杀意念的症状似乎减轻。我们建议PHQ-9评分≥10可作为无症状性原发性甲状旁腺功能亢进症患者甲状旁腺切除术的指征。
    OBJECTIVE: Currently, the relationship between parathyroidectomy and objective neuropsychiatric outcomes are not clearly defined. The purpose of this study is to perform the first ever Meta-analysis of preoperative and postoperative PHQ-9 and GAD-7 scores in patients with primary hyperparathyroidism undergoing parathyroidectomy with the goal of identifying a specific psychometric score that could be used as an indication for surgical intervention.
    METHODS: A comprehensive search of the literature was performed using PubMed, Embase, PsycINFO, Web of Science, and Ovid All EBM Reviews.
    METHODS: Studies met inclusion criteria if they evaluated preoperative and postoperative PHQ-9 and/or GAD-7 scores in patients with primary hyperparathyroidism undergoing parathyroidectomy. Random effects Meta-analyses were used to analyze the compiled data.
    RESULTS: The literature search returned 1433 articles for initial review of which 6 (1105 participants) met criteria for inclusion and Meta-analysis. Meta-analysis revealed that primary hyperparathyroidism patients had significantly higher presurgical PHQ-9 scores when compared to control groups. Additionally, patients experienced a statistically significant and sustained decrease in PHQ-9 scores following parathyroidectomy. Notably, there was a dramatic decrease in the percentage of patients with PHQ-9 scores ≥10 (considered clinically significant for depression) following parathyroidectomy.
    CONCLUSIONS: Patients with primary hyperparathyroidism experience a statistically significant and sustained improvement in PHQ-9 scores following parathyroidectomy. Additionally, symptoms of anxiety and suicidal ideation appear to decrease after parathyroidectomy. We propose that a PHQ-9 score ≥10 could potentially be used as an indication for parathyroidectomy in patients with asymptomatic primary hyperparathyroidism.
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