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Successful Treatment of Benign Insulinoma by Transcatheter Angioembolization
Q3 Medicine Pub Date : 2025-01-01 DOI: 10.1016/j.aace.2024.10.007
Maria Iriarte-Durán MD , Jose Teleche-Loaiza MD , Alberto Rosero-Guerrero MD , Edgar Folleco-Pazmiño MD , Andrés García-Trujillo MD , Guillermo Guzmán-Gómez MD

Background/Objective

Evidence on the efficacy and safety of minimally invasive treatment for insulinoma has increased over the past decade to the point of becoming a recommendation in clinical practice guidelines for the management of this type of neuroendocrine tumor.

Case Report

We describe the case of an elderly male patient with multiple comorbidities and recurrent isolated insulinoma of 3.7 × 3.5 cm involving the uncinate process of the pancreas and contacting the splenomesenteric confluent many years after first resection, in whom, after refusing surgical management, was performed as successful arterial embolization of the pancreatic tumor.

Discussion

When addressing this pathology, it is common to encounter patients who are not candidates for surgical management, either due to the presence of comorbidities, the location of the tumor in relation to vascular structures, or refusal of the intervention. Therefore, it is important to be aware of the different therapeutic options in localized and metastatic disease.

Conclusion

Minimally invasive procedures are positioned as an effective alternative for the treatment of the hormonal overproduction in patients with insulinoma.
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引用次数: 0
Malignant Paraganglioma With Calvarial Metastases Presenting With Recurrent Catecholamine-Induced Cardiomyopathy
Q3 Medicine Pub Date : 2025-01-01 DOI: 10.1016/j.aace.2024.09.006
Beatrice A. Brumley MD , Run Yu MD, PhD , Shadfar Bahri MD , Jane Rhyu MD

Background/Objective

Cranial metastases rarely occur in malignant paragangliomas (PGLs) or pheochromocytomas, which usually metastasize to the liver, bone, lungs, and lymph nodes. Early detection and intervention with a multidisciplinary approach are crucial given the critical location.

Case Report

Our patient was a 31-year-old man diagnosed with periaortic PGL and succinate dehydrogenase subunit B pathogenic variant at the age of 9 years with cardiac arrest. He developed intra-abdominal and skeletal metastatic disease by the age of 14 years and treated with surgery, chemotherapy, and radiation. After being lost to follow-up, the patient presented emergently with headache, palpitations, hypertensive crisis, type 2 non-ST-elevation myocardial infarction, and catecholamine-induced cardiomyopathy, with plasma free metanephrine level of 61.0 pg/mL (0.0-88.0 pg/mL) and elevated serum free normetanephrine level of 662.9 pg/mL (0.0-210.1 pg/mL). Imaging showed a right frontal calvarial lesion, with 4.9-cm intracranial dural and 4.9-cm extracranial components, and a 1.5-cm occipital bone lesion. Following adrenergic blockade, the patient underwent resection of the frontal lesion with pathology showing metastatic PGL.

Discussion

A multidisciplinary team was consulted. Because of potential neurotoxicity, radiology advised against radiotherapy. Oncology advised monitoring. Seven months postoperatively, gallium-68 dodecane tetraacetic acid–octreotate positron emission tomography/computed tomography showed no recurrence at the surgical site, stable occipital lesion, and additional skeletal metastases. The patient is planned for peptide receptor radionuclide therapy.

Conclusion

Our case highlights the importance of active surveillance in PGL and pheochromocytoma to allow early intervention for metastatic disease and reviews the controversial management of rare calvarial or cerebral metastases, including peptide receptor radionuclide therapy.
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引用次数: 0
Unmasking a Rare Genetic Mutation: The Importance of Genetic Testing in Refractory Hypertriglyceridemia 揭开罕见基因突变的面纱:基因检测对难治性高甘油三酯血症的重要性
Q3 Medicine Pub Date : 2024-11-01 DOI: 10.1016/j.aace.2024.08.006
Panagiotis Theodoropoulos MD , Nina Maria Fanaropoulou MD, MSc , Anastasios Manessis MD

Background/Objective

Genetic causes of hypertriglyceridemia like familial chylomicronemia syndrome can be overlooked in everyday practice. We report a patient with a rare genetic mutation, highlighting the importance of genetic testing for timely diagnosis and prevention of complications.

Case Report

A 45-year-old Hispanic female presented with serum triglyceride levels of 749 mg/dL, refractory to rosuvastatin 10 mg daily and omega-3 ethyl esters 2 g daily. Initial studies showed total cholesterol of 278 mg/dL and high-density lipoprotein of 38 mg/dL. Physical examination was negative for hepatosplenomegaly and xanthoma, with no reported history of acute pancreatitis. Despite treatment escalation with gemfibrozil, fenofibrate, and icosapent ethyl, her triglyceride levels remained elevated, peaking at 4300 mg/dL. Seven years after presentation, genetic testing revealed homozygosity for c.11delC of the apolipoprotein A5 gene, confirming the diagnosis of familial chylomicronemia syndrome. Postdiagnosis, the patient adhered to a strict low-fat diet with daily fat intake of less than 15-20 g, limited simple sugars, refined carbohydrates, and alcohol, leading to a nadir of serum triglycerides of 197 mg/dL.

Discussion

The identified mutation is exceedingly rare (<0.01%), as most associated mutations involve the lipoprotein lipase gene. There are no approved therapies for genetic hypertriglyceridemia. The mainstay of treatment is a very low-fat diet to prevent complications.

Conclusion

We underscore the importance of genetic testing in refractory hypertriglyceridemia despite a lack of clinical signs. A definitive diagnosis can alleviate patient burden, improve therapeutic adherence, and enhance the patient-physician relationship.
背景/目的:高甘油三酯血症如家族性乳糜低血症综合征的遗传原因在日常实践中可能被忽视。我们报告一个罕见基因突变的病人,强调基因检测对及时诊断和预防并发症的重要性。病例报告:一名45岁的西班牙裔女性,血清甘油三酯水平为749 mg/dL,每日瑞舒伐他汀10 mg和每日欧米伽-3乙酯2 g难治。初步研究显示总胆固醇为278毫克/分升,高密度脂蛋白为38毫克/分升。体格检查为肝脾肿大和黄瘤阴性,无急性胰腺炎病史报告。尽管使用吉非罗齐、非诺贝特和二十戊二烯乙酯治疗,她的甘油三酯水平仍然升高,峰值为4300 mg/dL。7年后,基因检测显示载脂蛋白A5基因c.11delC纯合子,确诊为家族性乳糜微粒血症综合征。诊断后,患者坚持严格的低脂饮食,每日脂肪摄入量低于15-20 g,限制单糖、精制碳水化合物和酒精,导致血清甘油三酯最低为197 mg/dL。结论:尽管缺乏临床症状,我们强调在难治性高甘油三酯血症中进行基因检测的重要性。明确的诊断可以减轻患者负担,提高治疗依从性,并加强医患关系。
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引用次数: 0
Management of Dysglycemia in a Pregnancy Complicated by Fanconi–Bickel Syndrome 范康尼-比克尔综合征并发妊娠血糖异常的处理方法
Q3 Medicine Pub Date : 2024-11-01 DOI: 10.1016/j.aace.2024.07.008
Emily D. Szmuilowicz MD, MS , Ellen Fruzyna BS , Nigel Madden MD , Janelle R. Bolden MD , Anne Kozek RD , Erika Vucko APRN-NP, FNP , Cybele Ghossein MD , Grant Barish MD

Background/Objective

Fanconi–Bickel Syndrome (FBS) is an inherited disorder of glucose metabolism resulting from functional loss of glucose transporter 2 characterized by fasting hypoglycemia oscillating with postprandial hyperglycemia. Dysglycemia treatment strategies during FBS pregnancy have not been reported, and insulin therapy carries significant risk due to fasting hypoglycemia in FBS. We report for the first time: (1) glycemic profiles obtained via continuous glucose monitoring (CGM), (2) CGM-guided strategies for cornstarch and nutritional therapy for fasting hypoglycemia and postprandial hyperglycemia, respectively, and (3) placental glucose transporter 2 isoform expression in a pregnant individual with FBS.

Case Report

A 27-year-old woman with FBS presented at 6 weeks gestation for management of fasting hypoglycemia and postprandial hyperglycemia. Cornstarch therapy for fasting hypoglycemia and nutritional therapy for postprandial hyperglycemia were iteratively adjusted across gestation based on CGM-derived glycemic patterns. Pregnancy-specific glycemic targets were successfully achieved, and she delivered a healthy term infant. Glucose transporter 2 isoform was not detected in placental tissue.

Discussion

We report for the first time glycemic patterns across gestation in a pregnant individual with FBS. Glycemic targets were achieved through stepwise optimization of nutritional and cornstarch therapy, both guided by CGM data. Our approach obviated the need for insulin therapy, which carries amplified risk in FBS.

Conclusion

Fasting hypoglycemia and postprandial hyperglycemia can be effectively treated through CGM-guided adjustment of both nutritional and glucose polymer therapies in FBS pregnancy. More broadly, our case highlights a novel application for CGM in the management of uncommon glucose metabolism disorders during pregnancy.
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引用次数: 0
Iodine Deficiency Hypothyroidism Among Children in the United States - 21st Century Resurgence? 美国儿童缺碘甲状腺功能减退症--21 世纪的回潮?
Q3 Medicine Pub Date : 2024-11-01 DOI: 10.1016/j.aace.2024.08.003
Sujatha Seetharaman MD, MPH , Sabitha Sasidharan Pillai MD , Avani Ganta MD , Kate Millington MD , Jose Bernardo Quintos MD , Lisa Swartz Topor MD, MMSc , Monica Serrano-Gonzalez MD

Background/Objective

Iodine deficiency hypothyroidism is an important cause of neurocognitive and motor impairment in children globally. In the United States, universal salt iodization, which began in the 1920s, led to a dramatic decline in iodine deficiency hypothyroidism. However, iodine deficiency may be reemerging due to increased consumption of noniodized salts, decreased dairy iodine concentrations, and decreased intake of iodine containing foods due to food allergies, dietary preferences such as vegan diets, or restrictive food intake disorders.

Case Report

We present a case series that challenges the existing clinical paradigm for hypothyroidism and describe 3 patients without underlying thyroid dysfunction who were diagnosed with iodine deficiency hypothyroidism over an 18-month period beginning in February 2021 in Northeastern United States. Prior studies reported 2 additional cases diagnosed in that same time frame at our clinical center.

Discussion

We report significant heterogeneity in clinical presentation: 3 patients had large goiters, 1 had a mild goiter, and 1 patient had no goiter. Biochemical tests were also variable and included a wide range of thyroid stimulating hormone elevations.

Conclusion

We suggest that a spot urine iodine concentration, combined with an elevated serum thyroglobulin level, can be an alternative to a 24-hour urinary iodine excretion for the diagnosis of iodine deficiency hypothyroidism given the clinical challenges of obtaining the latter. Thyroid function normalized in all patients with iodine supplementation.
背景/目的:碘缺乏性甲状腺功能减退症是全球儿童神经认知和运动障碍的重要病因。在美国,始于20世纪20年代的普遍食盐加碘,导致了碘缺乏症甲状腺功能减退症的急剧下降。然而,由于非碘盐摄入增加、乳制品碘浓度降低、食物过敏、饮食偏好(如纯素饮食)或限制性食物摄入障碍导致含碘食物摄入减少,碘缺乏可能再次出现。病例报告:我们提出了一个病例系列,挑战了现有的甲状腺功能减退的临床范例,并描述了3例无潜在甲状腺功能障碍的患者,从2021年2月开始,在美国东北部的18个月期间被诊断为碘缺乏性甲状腺功能减退。先前的研究报告了在我们临床中心同一时间段诊断的另外2例病例。讨论:我们报告了临床表现的显著异质性:3例患者有大甲状腺肿,1例有轻度甲状腺肿,1例无甲状腺肿。生化测试也不同,包括大范围的促甲状腺激素升高。结论:考虑到诊断缺碘性甲状腺功能减退的临床难度,我们建议尿碘浓度与血清甲状腺球蛋白水平升高相结合,可作为24小时尿碘排泄的替代方法。所有补充碘的患者甲状腺功能恢复正常。
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引用次数: 0
Development of Nonketotic Hyperglycemia Requiring High-Dose Insulin After Supratherapeutic Amlodipine Ingestion 超治疗性氨氯地平摄入后需要大剂量胰岛素的非酮症高血糖的发展。
Q3 Medicine Pub Date : 2024-11-01 DOI: 10.1016/j.aace.2024.08.010
Nishant Kumar DO, MS , Mihail Zilbermint MD, MBA, FACE

Background/Objective

Calcium channel blockers, when taken in overdose quantities, can cause hyperglycemia requiring so-called hyperinsulinemic-euglycemic therapy. The objective of this report was to describe a patient with calcium channel blocker toxicity resulting from overdose of amlodipine.

Case Report

A 74-year-old man presented with a fall and loss of consciousness. Prior to this event, he consumed 88 tablets of amlodipine. Medical history was significant for hypertension, hyperlipidemia, and cerebrovascular accident. His vital signs were heart rate of 51 beats/min, blood pressure of 162/137 mm Hg, oxygen saturation of 94% on room air, and respiratory rate of 16 breaths/min. The patient soon became hypotensive. The blood glucose level was 227 mg/dL. Urinalysis was negative for ketones. The patient was diagnosed with calcium channel blocker toxicity and admitted to the intensive care unit. He received continuous insulin infusion and dextrose 25% in water for 5 and 7 days respectively, with a peak insulin infusion rate of 850 U/h. After discontinuation of medications, the glucose level, blood pressure, and heart rate were 82 mg/dL, 127/68 mm Hg, and 86 beats/min, respectively, and he returned to prior functional status.

Discussion

Amlodipine is a long-acting dihydropyridine class calcium channel blocking drug. In the overdose setting, amlodipine inhibits calcium uptake by myocytes and release of insulin from pancreatic beta cells.

Conclusion

In this case, high-dose insulin euglycemic therapy was effective in the treatment of amlodipine overdose and should be considered in similar cases.
背景/目的:过量服用钙通道阻滞剂可引起高血糖,需要所谓的高胰岛素-降糖治疗。本报告的目的是描述一个病人钙通道阻滞剂毒性导致过量氨氯地平。病例报告:一名74岁男性,表现为跌倒和意识丧失。在此之前,他服用了88片氨氯地平。有高血压、高脂血症及脑血管意外病史。生命体征:心率51次/分,血压162/137毫米汞柱,室内空气氧饱和度94%,呼吸频率16次/分。病人很快出现低血压。血糖227毫克/分升。尿检酮类呈阴性。患者被诊断为钙通道阻滞剂毒性,并住进重症监护室。连续输注胰岛素和25%水葡萄糖,分别5天和7天,胰岛素输注速率峰值为850 U/h。停药后,血糖、血压和心率分别为82 mg/dL、127/68 mm Hg和86次/分,恢复到之前的功能状态。讨论:氨氯地平是一种长效二氢吡啶类钙通道阻断药物。在过量的情况下,氨氯地平抑制心肌细胞对钙的摄取和胰腺β细胞对胰岛素的释放。结论:本病例采用高剂量胰岛素正糖治疗氨氯地平过量是有效的,在类似病例中应予以考虑。
{"title":"Development of Nonketotic Hyperglycemia Requiring High-Dose Insulin After Supratherapeutic Amlodipine Ingestion","authors":"Nishant Kumar DO, MS ,&nbsp;Mihail Zilbermint MD, MBA, FACE","doi":"10.1016/j.aace.2024.08.010","DOIUrl":"10.1016/j.aace.2024.08.010","url":null,"abstract":"<div><h3>Background/Objective</h3><div>Calcium channel blockers, when taken in overdose quantities, can cause hyperglycemia requiring so-called hyperinsulinemic-euglycemic therapy. The objective of this report was to describe a patient with calcium channel blocker toxicity resulting from overdose of amlodipine.</div></div><div><h3>Case Report</h3><div>A 74-year-old man presented with a fall and loss of consciousness. Prior to this event, he consumed 88 tablets of amlodipine. Medical history was significant for hypertension, hyperlipidemia, and cerebrovascular accident. His vital signs were heart rate of 51 beats/min, blood pressure of 162/137 mm Hg, oxygen saturation of 94% on room air, and respiratory rate of 16 breaths/min. The patient soon became hypotensive. The blood glucose level was 227 mg/dL. Urinalysis was negative for ketones. The patient was diagnosed with calcium channel blocker toxicity and admitted to the intensive care unit. He received continuous insulin infusion and dextrose 25% in water for 5 and 7 days respectively, with a peak insulin infusion rate of 850 U/h. After discontinuation of medications, the glucose level, blood pressure, and heart rate were 82 mg/dL, 127/68 mm Hg, and 86 beats/min, respectively, and he returned to prior functional status.</div></div><div><h3>Discussion</h3><div>Amlodipine is a long-acting dihydropyridine class calcium channel blocking drug. In the overdose setting, amlodipine inhibits calcium uptake by myocytes and release of insulin from pancreatic beta cells.</div></div><div><h3>Conclusion</h3><div>In this case, high-dose insulin euglycemic therapy was effective in the treatment of amlodipine overdose and should be considered in similar cases.</div></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 6","pages":"Pages 257-260"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11680758/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142902555","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Severe Ectopic Adrenocorticotropic Hormone Syndrome Due to Pulmonary Carcinoid Tumor: A Case Report and Literature Review 肺类癌所致严重异位促肾上腺皮质激素综合征1例并文献复习。
Q3 Medicine Pub Date : 2024-11-01 DOI: 10.1016/j.aace.2024.08.002
Karissa Aldrete MD , Leena Shahla MD

Background/Objective

Pulmonary carcinoid tumors are a rare cause of Cushing’s syndrome and usually present with an indolent course. Here, we present a case of rapid onset and severe Cushing’s syndrome due to a typical pulmonary carcinoid tumor.

Case Report

A 32-year-old woman developed diabetes, hypertension, and weight gain of 50 pounds over 3 months. Laboratory evaluation was significant for elevated cortisol and adrenocorticotropic hormone levels and levels were nonsuppressible on low and high-dose dexamethasone suppression tests. Chest computed tomography revealed a pulmonary nodule and biopsy showed a typical carcinoid tumor. She was treated with steroidogenesis inhibitors with a plan for surgical excision but developed worsening complications of hypercortisolemia. She eventually underwent cryoablation of the tumor, but unfortunately passed away just 6 months after her initial presentation.

Discussion

Cushing’s syndrome in typical pulmonary carcinoid tumors is rarely seen and usually presents with mild hypercortisolism similar to Cushing’s disease. Severe hypercortisolemia from typical pulmonary carcinoid tumors can represent a more aggressive pathology or metastatic disease. Severe Cushing’s syndrome is associated with significant morbidity and mortality and requires rapid tumor localization as surgical resection can be curative.

Conclusion

This case highlights a rare presentation of severe Cushing’s syndrome due to a typical pulmonary carcinoid.
背景/目的:肺类癌是引起库欣综合征的罕见原因,通常表现为惰性病程。在此,我们报告一例由典型的肺类癌肿瘤引起的快速发作和严重的库欣综合征。病例报告:一名32岁女性患有糖尿病、高血压,3个月内体重增加50磅。实验室评估显示皮质醇和促肾上腺皮质激素水平升高,低剂量和高剂量地塞米松抑制试验水平不受抑制。胸部电脑断层显示一肺结节,活组织检查显示典型的类癌。她接受类固醇生成抑制剂治疗,并计划手术切除,但高皮质醇血症并发症恶化。她最终接受了肿瘤的冷冻消融,但不幸的是,在她最初的表现后仅6个月就去世了。讨论:库欣综合征在典型的肺类癌肿瘤中罕见,通常表现为与库欣病相似的轻度高皮质醇血症。典型肺类癌引起的严重高糖血症可能是一种更具侵袭性的病理或转移性疾病。严重的库欣综合征具有显著的发病率和死亡率,需要快速定位肿瘤,因为手术切除可以治愈。结论:本病例是一例罕见的由典型的肺类癌引起的严重库欣综合征。
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引用次数: 0
Endocrine Care of a 19-year-old Woman With Isolated Hypogonadotropic Hypogonadism due to 4H Syndrome 一名因 4H 综合征导致孤立性腺功能减退的 19 岁女性的内分泌护理。
Q3 Medicine Pub Date : 2024-11-01 DOI: 10.1016/j.aace.2024.08.001
Bright Nwatamole MBBS , Sumana Kundu MBBS , God-dowell O. Odukudu MD , Prava Basnet MBBS , Lubna Mirza MD, FACE

Background/Objective

4H syndrome is a rare form of leukodystrophy characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. In 95% of cases, hypomyelination is present, but other clinical features, such as hypodontia and hypogonadotropic hypogonadism, are not always present and may not be necessary for diagnosis. Hypogonadotropic hypogonadism is the most common endocrine complication that can occur in 4H syndrome. Other endocrine abnormalities are short stature and growth hormone deficiency.

Case Report

We present a 19-year-old female with 4H syndrome due to POLR3B gene mutations who presented with primary amenorrhea. She was referred to our endocrinology clinic by her primary care physician. She was diagnosed with 4H syndrome at age 15 by her pediatrician when she initially presented with primary amenorrhea, ataxia, and tremors and underwent karyotyping and confirmatory genetic tests. However, she received no endocrine care before coming to our clinic at 19. Neurologic exam revealed slight tremors in outstretched hands. A brain MRI study revealed no intracranial abnormalities. We subsequently placed her on Loestrin birth control, an estrogen/progestin combination contraceptive, and she begun having her menstrual periods.

Discussion

The prevalence of POLR3-related leukodystrophy is currently unknown. It can appear during childhood or later in life. Early onset increases the risk of mortality in young adulthood. Endocrine care entails hormone replacement therapy and monitoring for dysfunction over time.

Conclusion

Early diagnosis of hypogonadotropic hypogonadism in women, with or without other hormonal deficiencies caused by 4H syndrome, is crucial for effective treatment. Treatment should be multidisciplinary and aimed mainly at correcting low estrogen levels.
背景/目的:4H综合征是一种罕见的脑白质营养不良,其特征为髓鞘增生减少、牙髓缺损和促性腺功能减退。在95%的病例中,存在髓鞘增生减退,但其他临床特征,如髓鞘减退和促性腺功能减退,并不总是存在,可能不是诊断所必需的。促性腺功能减退是4H综合征中最常见的内分泌并发症。其他内分泌异常包括身材矮小和生长激素缺乏。病例报告:我们报告一名19岁的女性,因POLR3B基因突变而患有4H综合征,并表现为原发性闭经。她是由她的初级保健医生转介到我们内分泌科诊所的。她在15岁时被儿科医生诊断为4H综合征,当时她最初表现为原发性闭经、共济失调和震颤,并进行了核型和确认性基因检测。然而,她在19岁来我们诊所之前没有接受过内分泌治疗。神经系统检查显示伸出的双手有轻微震颤。脑部核磁共振检查未发现颅内异常。随后,我们给她使用了Loestrin节育,这是一种雌激素/黄体酮联合避孕药,她开始有了月经。讨论:polr3相关脑白质营养不良的患病率目前尚不清楚。它可以出现在童年或以后的生活中。早发会增加青年期死亡的风险。内分泌护理包括激素替代疗法和监测功能障碍随着时间的推移。结论:早期诊断妇女促性腺功能减退,伴或不伴4H综合征引起的其他激素缺乏,对有效治疗至关重要。治疗应该是多学科的,主要针对纠正低雌激素水平。
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引用次数: 0
Panhypopituitarism Secondary to Pituitary Abscess 继发于垂体脓肿的全垂体功能减退症。
Q3 Medicine Pub Date : 2024-11-01 DOI: 10.1016/j.aace.2024.08.004
Samir S.E. Ahmed MBBS, Mona Vahidi Rad MD, Sydney Westphal MD
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引用次数: 0
Nephrotic Syndrome as a Complication of Systemic Calcitonin Amyloidosis From Long-Standing Metastatic Medullary Thyroid Cancer 长期转移性甲状腺髓样癌引起全身降钙素淀粉样变的并发症:肾病综合征。
Q3 Medicine Pub Date : 2024-11-01 DOI: 10.1016/j.aace.2024.08.007
Samantha M. Siskind MD , Sakshi Yadav MBBS , Melinda Solomon MD , Philip E. Knapp MD, MS , Hanni Menn-Josephy MD , Jean Francis MD , Helmut G. Rennke MD , Rivka Ayalon MD , Katherine L. Modzelewski MD

Background/Objective

Medullary thyroid cancer often results in elevated calcitonin levels, which can cause localized formation of calcitonin amyloid, though rarely complications of systemic calcitonin amyloidosis have been reported. The objective of this report is to encourage awareness of calcitonin amyloid causing nephrotic syndrome in patients with metastatic medullary thyroid cancer.

Case Report

A 65-year-old woman with weakness, fatigue, anasarca, anemia, thrombocytopenia, venous and arterial thrombi, and a cavitary right lung lesion was transferred for care. She had a 14-year history of metastatic medullary thyroid cancer, status post-thyroidectomy and tyrosine kinase inhibitor therapy, adrenocorticotropic hormone-dependent Cushing syndrome in remission, and recently diagnosed nephrotic syndrome. On admission, she had lower extremity edema and scattered ecchymoses. Labs showed creatinine 0.62 mg/dL (0.7-1.3 mg/dL), morning cortisol >119.6 ug/dL (4-23 ug/dL), adrenocorticotropic hormone 426 pg/mL (6-50 pg/mL), 24-hour urine cortisol 6115.2 mcg/24 h (4-50 mcg/24 h), calcitonin 39 373 pg/mL (≤5 pg/mL), and carcinoembryonic antigen level 484.8 ng/mL (0-4.9 ng/mL). Kidney biopsy showed amyloidosis, which stained positive for calcitonin.

Discussion

Systemic calcitonin amyloidosis is not well-documented in medullary thyroid cancer. To our knowledge, there are 2 previous case reports describing nephrotic syndrome secondary to calcitonin amyloid in the setting of medullary thyroid cancer.

Conclusion

This case supports a small body of evidence that metastatic medullary thyroid cancer can result in systemic calcitonin amyloidosis and its complications, including nephrotic syndrome. Clinicians should consider nephrotic syndrome as a potential complication in patients with metastatic medullary thyroid cancer, particularly in those with long-standing calcitonin elevation and characteristic symptoms.
背景/目的:甲状腺髓样癌常导致降钙素水平升高,可引起局部降钙素淀粉样蛋白的形成,但很少有系统性降钙素淀粉样变的并发症报道。本报告的目的是鼓励认识降钙素淀粉样蛋白引起肾病综合征的转移性甲状腺髓样癌患者。病例报告:65岁女性,虚弱,乏力,贫血,血小板减少,静脉和动脉血栓,右肺空洞性病变转院治疗。她有14年的转移性甲状腺髓样癌病史,甲状腺切除术和酪氨酸激酶抑制剂治疗后的状态,促肾上腺皮质激素依赖性库欣综合征缓解,最近诊断为肾病综合征。入院时,患者有下肢水肿和散在性瘀斑。实验结果:肌酐0.62 mg/dL (0.7 ~ 1.3 mg/dL),晨间皮质醇>119.6 ug/dL (4 ~ 23 ug/dL),促肾上腺皮质激素426 pg/mL (6 ~ 50 pg/mL), 24小时尿皮质醇6115.2 mcg/24 h (4 ~ 50 mcg/24 h),降钙素39 373 pg/mL(≤5 pg/mL),癌胚抗原484.8 ng/mL (0 ~ 4.9 ng/mL)。肾活检显示淀粉样变,降钙素染色阳性。讨论:全身性降钙素淀粉样变在甲状腺髓样癌中没有充分的证据。据我们所知,先前有2例病例报告描述了甲状腺髓样癌中继发于降钙素淀粉样蛋白的肾病综合征。结论:本病例支持少量证据表明转移性甲状腺髓样癌可导致全身降钙素淀粉样变及其并发症,包括肾病综合征。临床医生应考虑肾病综合征作为转移性甲状腺髓样癌患者的潜在并发症,特别是那些长期降钙素升高和特征性症状的患者。
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引用次数: 0
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