Revista Medica Clinica Las Condes最新文献

英文中文

Neoplasias endocrinas múltiples: de lo molecular a lo clínico 多发性内分泌肿瘤：从分子到临床

IF 0.4 Q4 MEDICINE, GENERAL & INTERNAL

Revista Medica Clinica Las Condes

Pub Date : 2025-07-01 DOI: 10.1016/j.rmclc.2025.08.012

Nelson Wohllk MD , Consuelo Olave MD

Multiple Endocrine Neoplasia (MEN) types 1, 2 (subdivided into 2A and 2B), 4, and 5 are hereditary genetic syndromes with an autosomal dominant inheritance pattern. They are characterized by the development of multiple endocrine tumors, both benign and malignant, affecting various glands, with clinical manifestations that vary depending on the MEN subtype.

MEN type 1 (MEN1) is associated with inactivating mutations in the MEN1 gene and is mainly manifested by parathyroid, pituitary, and gastroenteropancreatic tumors. Molecular analysis of the MEN1 gene is indicated in patients with clinical suspicion and their relatives, although the genotype–phenotype correlation remains limited.

MEN type 2 (MEN2) results from activating mutations in the proto-oncogene RET and is characterized by medullary thyroid carcinoma (MTC), which is highly penetrant, aggressive, and common to all MEN2 subtypes. MEN2A is also associated with pheochromocytoma and hyperparathyroidism, whereas MEN2B includes pheochromocytoma and mucosal neuromas. Prophylactic thyroidectomy is recommended in childhood for carriers of RET mutations, according to the risk stratification defined by the American Thyroid Association. Moreover, apparently sporadic cases of MTC may represent undiagnosed MEN2, supporting the systematic analysis of the RET proto-oncogene.

MEN type 4 (MEN4), associated with mutations in the CDKN1B gene, presents a phenotype similar to MEN1 but with lower severity and later onset.

MEN type 5 (MEN5), linked to mutations in the MAX gene, is mainly associated with hereditary pheochromocytomas and paragangliomas.

Early diagnosis and targeted genetic testing enable the implementation of surveillance and personalized management strategies, thereby reducing morbidity and mortality.

The aim of this article is to review the genetic, clinical, and diagnostic features of the main multiple endocrine neoplasia (MEN) syndromes, with emphasis on their classification, specific manifestations, the role of molecular testing, and early management strategies aimed at reducing associated morbidity and mortality

多发性内分泌瘤（MEN）类型1、2（细分为2A和2B）、4和5是常染色体显性遗传模式的遗传性遗传综合征。其特点是发展为多发性内分泌肿瘤，良恶性均可，影响各种腺体，临床表现因MEN亚型而异。MEN1型（MEN1）与MEN1基因失活突变相关，主要表现为甲状旁腺、垂体和胃肠胰腺肿瘤。尽管基因型-表型相关性仍然有限，但在临床怀疑的患者及其亲属中需要进行MEN1基因的分子分析。MEN2型（MEN2）是由原癌基因RET的激活突变引起的，其特征是甲状腺髓样癌（MTC），其高度渗透，侵袭性，并且在所有MEN2亚型中都很常见。MEN2A也与嗜铬细胞瘤和甲状旁腺功能亢进有关，而MEN2B包括嗜铬细胞瘤和粘膜神经瘤。根据美国甲状腺协会定义的风险分层，建议对RET突变携带者在儿童时期进行预防性甲状腺切除术。此外，明显散发的MTC病例可能代表未诊断的MEN2，支持RET原癌基因的系统分析。与CDKN1B基因突变相关的MEN4型（MEN4）表现出与MEN1相似的表型，但严重程度较低且发病较晚。MEN5型（MEN5）与MAX基因突变有关，主要与遗传性嗜铬细胞瘤和副神经节瘤相关。早期诊断和有针对性的基因检测有助于实施监测和个性化管理战略，从而降低发病率和死亡率。本文旨在综述主要多发性内分泌瘤（MEN）综合征的遗传、临床和诊断特点，重点介绍其分类、具体表现、分子检测的作用以及旨在降低相关发病率和死亡率的早期治疗策略

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引用次数: 0

Ablación de nódulos tiroideos: revisión de la literatura 甲状腺结节消融：文献综述

IF 0.4 Q4 MEDICINE, GENERAL & INTERNAL

Revista Medica Clinica Las Condes

Pub Date : 2025-07-01 DOI: 10.1016/j.rmclc.2025.08.014

Alex Wash Franulic MD

The ablation of benign thyroid nodules using minimally invasive techniques has emerged as an effective and safe alternative to conventional surgery. Minimally invasive ablative procedures such as radiofrequency ablation, microwave ablation, laser ablation, and percutaneous ethanol injection allow significant nodule volume reduction (≥ al 50%), improvement of local symptoms and preservation of thyroid function. This article reviews the main guidelines and expert consensuses, including the American Thyroid Association (ATA 2015) Guidelines, the European Thyroid Association Guidelines (ETA 2020), the Korean Society of Thyroid Radiology Consensus (KSThR 2012 and its updates up to 2025), the Chinese Expert Consensus (English version 2020), the Brazilian Consensus (2024) and European and North American articles. In this review the main techniques, indications, clinical outcomes, safety, associated complications and future perspectives are highlighted.

使用微创技术消融良性甲状腺结节已成为传统手术的一种有效和安全的替代方法。微创消融手术，如射频消融、微波消融、激光消融和经皮乙醇注射，可显著减少结节体积（≥50%），改善局部症状并保留甲状腺功能。本文综述了主要指南和专家共识，包括美国甲状腺协会指南（ATA 2015）、欧洲甲状腺协会指南（ETA 2020）、韩国甲状腺放射学会共识（KSThR 2012及其2025年更新）、中国专家共识（英文版2020）、巴西共识（2024）以及欧洲和北美的文章。在这篇综述中，重点介绍了主要技术、适应症、临床结果、安全性、相关并发症和未来展望。

引用次数: 0

Hipofosfatemia

IF 0.4 Q4 MEDICINE, GENERAL & INTERNAL

Revista Medica Clinica Las Condes

Pub Date : 2025-07-01 DOI: 10.1016/j.rmclc.2025.08.003

Pablo Florenzano MD

Phosphate is a mineral essential for key functions such as bone mineralization and proper muscle function. Its homeostasis is mainly regulated by parathyroid hormone (PTH), active vitamin D (calcitriol), and fibroblast growth factor 23 (FGF23). Hypophosphatemia can lead to skeletal abnormalities such as rickets or osteomalacia, and systemic symptoms like proximal muscle weakness. The causes are grouped into three mechanisms: intracellular redistribution, decreased intestinal absorption, and increased renal excretion. Diagnosis requires a structured evaluation, including medical history, physical examination, laboratory studies, and eventually FGF23 measurement. Treatment depends on the cause, severity, and symptoms. In hereditary forms such as X-linked hypophosphatemia (XLH), chronic treatment with oral phosphate, calcitriol, and eventually the anti-FGF23 monoclonal antibody, burosumab, is required. A multidisciplinary approach and close follow-up are key to preventing skeletal and systemic complications. The objective of this review is to recognize hypophosphatemia as a relevant metabolic disorder in clinical practice, understanding its pathophysiology, causes, clinical manifestations, diagnosis, and therapeutic options, in order to optimize its detection and timely management.

磷酸盐是骨骼矿化和正常肌肉功能等关键功能所必需的矿物质。其稳态主要受甲状旁腺激素（PTH）、活性维生素D（骨化三醇）和成纤维细胞生长因子23 （FGF23）的调控。低磷血症可导致骨骼异常，如佝偻病或骨软化症，以及全身症状，如近端肌肉无力。病因分为三种机制：细胞内再分布、肠道吸收减少和肾排泄增加。诊断需要结构化的评估，包括病史、体格检查、实验室研究和最终的FGF23测量。治疗取决于病因、严重程度和症状。对于遗传形式，如x连锁低磷血症（XLH），需要口服磷酸盐，骨化三醇和抗fgf23单克隆抗体（brosumab）进行慢性治疗。多学科方法和密切随访是预防骨骼和全身并发症的关键。本综述的目的是在临床实践中认识到低磷血症是一种相关的代谢性疾病，了解其病理生理、病因、临床表现、诊断和治疗方案，以优化其检测和及时管理。

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引用次数: 0

Cáncer de mama HER2-bajo: una nueva era en terapias dirigidas 低her2乳腺癌：靶向治疗的新时代

IF 0.2 Q4 MEDICINE, GENERAL & INTERNAL

Revista Medica Clinica Las Condes

Pub Date : 2025-05-01 DOI: 10.1016/j.rmclc.2025.05.003

Benjamín Walbaum MD , Francisco Acevedo MD, MSc , Lidia Medina RN , César Sánchez MD

Breast cancer is a heterogeneous disease that goes beyond traditional clinicopathological classifications. Identifying low and ultra-low levels of HER2 expression through immunohistochemistry, in tumors previously classified as HER2-negative, has led to a paradigm shift in patient management. This reclassification has expanded therapeutic options for a significant proportion of patients, with estimates indicating that over 60% of patients with hormone receptor-positive breast cancers fall into the HER2-low category.

Trastuzumab deruxtecan, an antibody-drug conjugate, has demonstrated significant survival benefits in patients with advanced HER2-low breast cancer, who, in most cases, were previously candidates solely for chemotherapy following hormonal treatment. However, this therapy is not exempt from toxicity, notably interstitial lung disease/pneumonitis, which can be severe and even fatal in some instances. Early detection of these toxicities and their interdisciplinary management are crucial to optimize clinical outcomes in these patients.

This article provides an overview of recent advancements in treating patients with HER2-low breast cancer, highlighting pivotal studies and emphasizing the importance of stringent monitoring for toxicities associated with new therapies.

乳腺癌是一种异质性疾病，超越了传统的临床病理分类。通过免疫组织化学识别低水平和超低水平的HER2表达，在以前被分类为HER2阴性的肿瘤中，导致了患者管理的范式转变。这种重新分类扩大了很大一部分患者的治疗选择，据估计，超过60%的激素受体阳性乳腺癌患者属于her2低类别。曲妥珠单抗德uxtecan是一种抗体-药物偶联物，已证明在晚期her2低乳腺癌患者中具有显着的生存益处，在大多数情况下，这些患者以前仅接受激素治疗后的化疗。然而，这种疗法也有毒性，特别是间质性肺病/肺炎，在某些情况下可能是严重的，甚至是致命的。这些毒性的早期发现及其跨学科管理对于优化这些患者的临床结果至关重要。本文概述了治疗低her2乳腺癌患者的最新进展，重点介绍了关键研究，并强调了严格监测新疗法相关毒性的重要性。

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引用次数: 0

Hospitalización en los pacientes con enfermedad de parkinson 帕金森氏症住院治疗

IF 0.2 Q4 MEDICINE, GENERAL & INTERNAL

Revista Medica Clinica Las Condes

Pub Date : 2025-05-01 DOI: 10.1016/j.rmclc.2025.06.005

Marcos E. Franchello MD , Juan José Paz MD, MSc

Parkinson's disease (PD) is a chronic, progressive neurodegenerative disorder. It is the third leading cause of disability in individuals over 80 years old and the fifth in those over 60. The incidence and prevalence of Parkinson's disease have significantly increased worldwide from 1990 to 2021. All patients with PD have a significant risk of requiring hospitalizations that demand greater complexity in managing comorbidities, complications, and/or intercurrent conditions. The aim of this brief review is to update the management of patients with PD during hospitalization.

帕金森病（PD）是一种慢性进行性神经退行性疾病。它是80岁以上老年人致残的第三大原因，也是60岁以上老年人致残的第五大原因。从1990年到2021年，全世界帕金森病的发病率和流行率显著增加。所有PD患者都有需要住院治疗的显著风险，这在处理合并症、并发症和/或并发疾病方面需要更大的复杂性。本文简要回顾的目的是更新PD患者住院期间的管理。

引用次数: 0

Encefalitis autoinmune asociada a anticuerpos anti-LGI1: revisión de sus aspectos clínicos, diagnósticos y terapéuticos 与LGI1抗体相关的自身免疫性脑炎：临床、诊断和治疗方面的回顾

IF 0.2 Q4 MEDICINE, GENERAL & INTERNAL

Revista Medica Clinica Las Condes

Pub Date : 2025-05-01 DOI: 10.1016/j.rmclc.2025.06.004

Dianelys Herrada-de la Cruz MD , Luis Alberto A. Bustamante-Canales , Catalina Paz Silva-Carrasco , Rocío A. Faúndez-Silva

Autoimmune encephalitis associated with anti-LGI1 antibodies is one of the most recognized forms of immune-mediated limbic encephalitis. This condition typically presents with a subacute course of focal seizures, behavioral disturbances, and memory impairment, often accompanied by faciobrachial dystonic seizures. Unlike other types of autoimmune encephalitis, its association with neoplasms is uncommon; however, early recognition is essential due to its favorable prognosis when promptly treated. Diagnosis relies on characteristic clinical features, supportive neuroimaging findings, cerebrospinal fluid abnormalities, and detection of anti-LGI1 antibodies in serum or cerebrospinal fluid. First-line treatment includes immunotherapy with corticosteroids, intravenous immunoglobulin, or plasma exchange. In refractory cases, rituximab has demonstrated positive clinical outcomes and lower relapse rates. This article summarizes the epidemiological, pathophysiological, clinical, diagnostic, and therapeutic aspects of this entity, emphasizing the importance of early clinical suspicion. Moreover, it highlights that there are cases with highly suggestive clinical manifestations where antibody titers may be low or undetectable, underscoring the critical role of clinical judgment in the diagnostic process.

与抗lgi1抗体相关的自身免疫性脑炎是免疫介导的边缘脑炎最常见的形式之一。这种情况通常表现为亚急性局灶性发作、行为障碍和记忆障碍，常伴有面臂肌张力障碍发作。与其他类型的自身免疫性脑炎不同，其与肿瘤的关联并不常见；然而，由于及时治疗预后良好，早期识别是必不可少的。诊断依赖于特征性临床特征、支持性神经影像学发现、脑脊液异常以及血清或脑脊液中抗lgi1抗体的检测。一线治疗包括皮质类固醇、静脉注射免疫球蛋白或血浆置换的免疫治疗。在难治性病例中，利妥昔单抗显示出积极的临床结果和较低的复发率。本文总结了该病的流行病学、病理生理、临床、诊断和治疗方面的情况，强调了早期临床怀疑的重要性。此外，它还强调了一些具有高度提示性临床表现的病例，其中抗体滴度可能很低或无法检测到，这强调了临床判断在诊断过程中的关键作用。

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引用次数: 0

cefalea por uso excesivo de fármacos 药物滥用头痛

IF 0.2 Q4 MEDICINE, GENERAL & INTERNAL

Revista Medica Clinica Las Condes

Pub Date : 2025-05-01 DOI: 10.1016/j.rmclc.2025.06.006

Alex R. Espinoza MD

Medication overuse headache (MOH) is a complex and still-developing entity, with diagnostic criteria established in the 3rd edition of the International Classification of Headache Disorders (ICHD-3). It has a prevalence of 2.2% in the general population and produces a severe burden of disease in those who suffer from it. Patients are heterogeneous in several respects; it has not been determined whether the patient's genetic makeup triggers a chronic headache, or if the medications themselves are the sole cause of the chronicity of the patient's primary baseline headache. There are complicated and uncomplicated MOH. Treatment must be multidisciplinary. Abrupt detoxification, associated with the early initiation of preventive therapy, has been shown to be most effective. New therapies for the preventive treatment of migraine have generated new paradigms in the management of MOH, and there are currently several therapeutic alternatives. There are three detoxification regimens: outpatient regimen, hospitalization in a health center, and day hospitalization. The medium and long-term prognosis is positive, but a follow-up program is required for these patients over time due to their high relapse rate, especially during the first year.

药物过度使用性头痛（MOH）是一种复杂且仍在发展中的疾病，其诊断标准在《国际头痛疾病分类》（ICHD-3）第三版中确立。它在一般人群中的患病率为2.2%，对患者造成严重的疾病负担。患者在几个方面是异质的；目前还不确定是患者的基因构成引发了慢性头痛，还是药物本身是导致患者原发性基线头痛的唯一原因。卫生部有复杂和简单之分。治疗必须是多学科的。与早期开始预防性治疗有关的突然解毒已被证明是最有效的。预防性治疗偏头痛的新疗法已经在MOH的管理中产生了新的范例，目前有几种治疗替代方案。有三种排毒方案：门诊方案、保健中心住院和日间住院。中期和长期预后是积极的，但由于这些患者的复发率高，特别是在第一年，需要长期随访。

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引用次数: 0

Complicaciones neurológicas relacionadas con la inmunoterapia en pacientes oncológicos 癌症患者与免疫治疗有关的神经系统并发症

IF 0.2 Q4 MEDICINE, GENERAL & INTERNAL

Revista Medica Clinica Las Condes

Pub Date : 2025-05-01 DOI: 10.1016/j.rmclc.2025.06.001

Gabriela Montecinos MD, Florencia del Río MD

Immune checkpoint inhibitors, better known as immunotherapies, have revolutionized oncological treatment, allowing long-lasting and even curative tumor responses in various neoplasms. Their use, however, is associated with immunological adverse effects, among which neurological adverse effects represent a rare but clinically relevant entity.

This article addresses the epidemiology, classification, diagnostic keys and management of the most frequent neurological complications of immunotherapies, providing health professionals, and especially neurologists, with key tools for their recognition and timely treatment.

免疫检查点抑制剂，也被称为免疫疗法，已经彻底改变了肿瘤治疗，在各种肿瘤中允许持久甚至治愈的肿瘤反应。然而，它们的使用与免疫不良反应有关，其中神经系统不良反应是一种罕见但临床相关的实体。本文阐述了免疫治疗最常见的神经系统并发症的流行病学、分类、诊断关键和管理，为卫生专业人员，特别是神经科医生提供了识别和及时治疗的关键工具。

引用次数: 0

Crisis miasténica, diagnóstico y tratamiento 肌无力危机的诊断和治疗

IF 0.2 Q4 MEDICINE, GENERAL & INTERNAL

Revista Medica Clinica Las Condes

Pub Date : 2025-05-01 DOI: 10.1016/j.rmclc.2025.06.003

Luis Gutiérrez Panchana MD , Luis Pedraza Castillo MD

Myasthenic crisis (MC) is a severe and potentially fatal complication of autoimmune myasthenia gravis (MG), characterized by an acute worsening of bulbar and respiratory muscle weakness that can lead to respiratory failure. It may occur in up to 20% of patients with MG, and in some cases constitutes the initial manifestation of the disease. Early recognition and early intervention are key to improving prognosis.

MC requires urgent, multidisciplinary management. Early respiratory support, immunotherapy with IVIG or PLEX, and appropriate use of immunosuppressants are critical for good outcomes. Current research on biologic therapies offers new alternatives for patients with refractory disease.

This article aims to comment on the current evidence and provide a comprehensive overview of the clinical features, diagnostic approach, triggering factors and therapeutic strategies in the management of MC, synthesizing pathophysiological mechanisms, ICU management protocols, immunotherapeutic interventions and new biologic therapies.

重症肌无力危象（MC）是自身免疫性重症肌无力（MG）的一种严重且可能致命的并发症，其特征是球肌和呼吸肌无力的急性恶化，可导致呼吸衰竭。它可能发生在高达20%的MG患者中，并且在某些情况下构成该疾病的初始表现。早期识别和早期干预是改善预后的关键。MC需要紧急的多学科管理。早期呼吸支持、IVIG或PLEX免疫治疗以及适当使用免疫抑制剂是获得良好结果的关键。目前生物疗法的研究为难治性疾病患者提供了新的选择。本文旨在对目前的证据进行评述，并对MC的临床特点、诊断方法、触发因素和治疗策略、综合病理生理机制、ICU管理方案、免疫治疗干预和新的生物治疗方法进行全面综述。

引用次数: 0

COLEDOCOCELE en adulto mayor: una causa inusual de pancreatitis aguda a repetición. Reporte de caso 成人蛔虫：急性复发胰腺炎的一种不寻常的病因。案例报告

IF 0.2 Q4 MEDICINE, GENERAL & INTERNAL

Revista Medica Clinica Las Condes

Pub Date : 2025-05-01 DOI: 10.1016/j.rmclc.2025.05.001

Eduardo Segovia-Vergara , María Goitia-Inojosa MD , Sebastián Bravo-Cuvia MD , Renato Carrasco-Farías MD , Rodrigo Mansilla-Vivara MD, MHA

Introduction

Choledochal cysts refer to the cystic dilation of a segment of the bile duct. They have an incidence of 1 in 100,000-150,000 individuals, being more common in women. Twenty percent are diagnosed in adulthood and may complicate various pancreatobiliary diseases, including recurrent acute pancreatitis. If left untreated, it may lead to significant complications in adulthood. This case emphasizes the need to consider anatomical causes in patients with pancreatitis of unclear etiology in order to improve diagnosis and management.

Case Report

A 69-year-old woman with a history of previous cholecystectomy and two episodes of non-alcoholic acute pancreatitis, presented with epigastric pain radiating in band, associated with vomiting and abdominal distension. The patient did not refer drug or alcohol consumption. Laboratory parameters revealed hyperamylasemia. Magnetic resonance cholangiopancreatography indicated cystic dilation of the distal common bile duct. Endoscopic sphincterotomy and unroofing of the choledochocele were performed under endoscopic retrograde cholangiopancreatography (ERCP), with complete clinical recovery.

Discussion and Conclusion

Choledochocele is an uncommon pathology in adults and difficult to suspect as the primary cause of recurrent acute pancreatitis. Treatment depends on its classification, with ERCP being the treatment of choice in this case. This approach allows resolution and prevents recurrence of complications and potential malignancy of the lesion.

胆道囊肿是指胆管的一段囊性扩张。它们的发病率为10 -15万分之一，在女性中更为常见。20%在成年时被诊断出来，并可能使各种胰胆管疾病复杂化，包括复发性急性胰腺炎。如果不及时治疗，可能会导致成年期的严重并发症。本病例强调在病因不明的胰腺炎患者中需要考虑解剖学原因，以提高诊断和治疗。病例报告：一名69岁女性，既往有胆囊切除术史和两次非酒精性急性胰腺炎发作，表现为带状胃脘痛，伴有呕吐和腹胀。患者没有提及药物或酒精消耗。实验室参数显示高淀粉酶血症。磁共振胆管造影显示胆总管远端囊性扩张。在内窥镜逆行胆管造影（ERCP）下行括约肌切开术和胆总管切除，临床完全恢复。讨论与结论胆总管囊肿是一种罕见的成人病理，很难怀疑是复发性急性胰腺炎的主要原因。治疗取决于其分类，在这种情况下，ERCP是治疗的选择。这种方法可以解决并防止并发症的复发和潜在的恶性病变。

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