AACE Clinical Case Reports最新文献_第10页

Amelioration of Paget Disease of Bone After Denosumab for Osteopenia Denosumab治疗骨质疏松症后骨Paget病的改善。

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2023-09-01 DOI: 10.1016/j.aace.2023.05.007

Vijayvardhan Kamalumpundi BS , Elham Shams MD , Maisoon Torfah MD , Marcelo L. Correia MD, MSc, PhD

Background/Objective

Denosumab is a monoclonal antibody that inhibits bone resorption and is indicated for the treatment of osteoporosis, bone metastases, and giant cell tumor of bone. We describe a woman with symptomatic Paget disease of the skull whose headaches and monostotic disease of the skull improved after receiving denosumab for concomitant low bone density.

Case Report

A 75-year-old woman presented with unremitting headache of 1 month. She had a medical history of polymyalgia rheumatica, osteopenia, hypothyroidism, and gastroesophageal reflux disease. She reported taking prednisone 1 to 20 mg daily for polymyalgia rheumatica for 1 year and received a dose of denosumab 60 mg for osteopenia 1 month before presentation. The calcium, alkaline phosphatase, and bone-specific alkaline phosphatase levels were 8.2 mg/dL (reference range [RR], 8.5-10.5 mg/dL), 132 U/L (RR, 40-129 U/L), and 17.8 μg/L (RR, 7-22.4 μg/L), respectively. Skull radiography revealed sclerosis/hyperostosis, lytic lesions, and expansion of bone, consistent with Paget disease of bone (PDB). Five months after the initial presentation, her headache resolved, and her calcium and alkaline phosphatase levels were 9.7 U/L and 96 U/L, respectively.

Discussion

Denosumab neutralizes the receptor activator of nuclear factor-kappa B ligand. To date, there have been 2 case reports reported in the English literature of denosumab used successfully in patients with PDB who could not tolerate or were not eligible for bisphosphonates. This case report describes a patient with PDB treated with denosumab for osteopenia who experienced improvement in PDB-related symptoms.

Conclusion

Although denosumab was originally approved for the treatment of osteoporosis, the inhibition of bone resorption via inhibition of the receptor activator of nuclear factor-kappa B ligand may be potentially effective in the treatment of PDB.

背景/目的：Denosumab是一种抑制骨吸收的单克隆抗体，适用于治疗骨质疏松、骨转移和骨巨细胞瘤。我们描述了一名患有症状性颅骨Paget病的女性，其头痛和颅骨单发性疾病在接受替诺沙单抗治疗伴发的低骨密度后有所改善。病例报告：一位75岁的女性，持续头痛1个月。她有风湿病、骨质减少、甲状腺功能减退和胃食管反流病病史。据报道，她每天服用泼尼松1至20 mg治疗风湿性多肌痛，持续1年，并在出现症状前1个月服用剂量为60 mg的替诺沙单抗治疗骨质减少症。钙、碱性磷酸酶和骨特异性碱性磷酸酶水平分别为8.2 mg/dL（参考范围[RR]，8.5-10.5 mg/dL）、132 U/L（RR，40-129 U/L）和17.8μg/L（RR，7-22.4μg/L）。颅骨X线片显示骨硬化/骨质增生、溶解性病变和骨膨胀，与骨Paget病（PDB）一致。初次就诊五个月后，她的头痛症状缓解，钙和碱性磷酸酶水平分别为9.7U/L和96U/L。讨论：Denosumab中和核因子κB配体的受体激活剂。到目前为止，英国文献中已经报道了2例狄诺沙单抗成功用于不能耐受或不符合双磷酸盐条件的PDB患者的病例报告。本病例报告描述了一名PDB患者，该患者在PDB相关症状方面有所改善。结论：尽管狄诺沙单抗最初被批准用于治疗骨质疏松症，但通过抑制核因子κB配体的受体激活剂来抑制骨吸收可能对PDB的治疗具有潜在的有效性。

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引用次数: 1

Autoimmune Hypoglycemia With Anti-Insulin Autoantibodies in an Eighty-One-Year-Old Woman Without Apparent Risk Factors 无明显危险因素的81岁女性抗胰岛素自身抗体自身免疫性低血糖。

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2023-09-01 DOI: 10.1016/j.aace.2023.04.012

Vikash Kumar MD , Dhir Gala BS , Ibnul Rafi BS , Mili Shah BS , Sabrin Marowa MD , Diksha Kaul MD , Simon Lukose MD , Saka Kazeem MD

Background/Objective

Insulin autoimmune syndrome (IAS) is a very rare cause of hypoglycemia presenting with recurrent fasting or postprandial hypoglycemia episodes with elevated serum insulin levels and insulin autoantibodies. The objective of this case is to highlight the importance of considering IAS in patients with hypoglycemia.

Case Report

We present a case of an 81-year-old female who presented with symptoms of hypoglycemia. She was found to have hyperinsulinemic hypoglycemic episodes without any apparent risk factors for IAS. She had positive–insulin autoantibodies in her serum leading to the diagnosis of IAS. Acutely, hypoglycemia was managed with D50 pushes, oral glucose, and glucagon injection.

Discussion

Patients who present with hypoglycemia due to endogenous hyperinsulinemia should have IAS considered as a possible differential diagnosis. Insulin autoantibodies are measured as the gold standard diagnostic test for IAS. Foods with a low glycemic index are the primary treatment for IAS.

Conclusion

This case presentation highlights the importance of considering IAS as a differential diagnosis in patients presenting with hypoglycemia secondary to hyperinsulinemia, even in the absence of apparent risk factors.

背景/目的：胰岛素自身免疫综合征（IAS）是一种非常罕见的低血糖病因，表现为反复出现的空腹或餐后低血糖发作，伴有血清胰岛素水平升高和胰岛素自身抗体。本病例的目的是强调在低血糖患者中考虑IAS的重要性。病例报告：我们报告了一例81岁的女性，她出现低血糖症状。她被发现有高胰岛素血症低血糖发作，没有任何明显的IAS危险因素。她的血清中有阳性的胰岛素自身抗体，从而被诊断为IAS。急性低血糖症采用D50推压、口服葡萄糖和胰高血糖素注射治疗。讨论：内源性高胰岛素血症引起低血糖的患者应将IAS作为可能的鉴别诊断。胰岛素自身抗体作为IAS的金标准诊断测试进行测量。低血糖指数的食物是IAS的主要治疗方法。结论：本病例报告强调了将IAS作为高胰岛素血症继发低血糖患者的鉴别诊断的重要性，即使在没有明显危险因素的情况下也是如此。

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引用次数: 1

Elevated Serum Androstenedione Level in a Patient With Ectopic Adrenocorticotropic Hormone Syndrome 异位性肾上腺皮质激素综合征患者血清雄烯二酮水平升高。

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2023-09-01 DOI: 10.1016/j.aace.2023.04.009

Sherry Zhang MD , Joan C. Lo MD , Marc G. Jaffe MD , Hasmik Arzumanyan MD

Background/Objective

Ectopic Cushing syndrome can be challenging to diagnose when its presentation is atypical. Herein, we highlight features of ectopic adrenocorticotropic hormone (ACTH) syndrome in a patient with worsening hypertension, hypokalemia, ACTH-dependent hypercortisolism, and disproportionate elevation in serum androstenedione levels.

Case Report

A 59-year-old woman presented with rapidly progressing hypertension, severe hypokalemia, confusion, and weakness. Her medical history included well-controlled hypertension receiving amlodipine 5 mg/day, which worsened 3 months prior to admission requiring losartan and spironolactone therapy, with twice daily potassium supplementation. Physical examination was notable for bruising, muscle wasting, thin extremities, facial fullness, and abdominal adiposity despite body mass index 17 kg/m². Laboratory evaluation showed potassium 2.6 mEq/L (3.5-5.3), morning cortisol >50 mcg/dL (8-25), 24-hour urine cortisol 8369 mcg/day (<50), ACTH 308 pg/mL (<46), androstenedione 398 ng/dL (20-75), dehydroepiandrosterone sulfate 48 mcg/dL (≤430), and testosterone 11 ng/dL (≤4.5) levels. A 3.8-cm carcinoid right lung tumor was identified, and resection was performed with clean margins. Cortisol, androstenedione, and potassium levels rapidly normalized postoperatively and blood pressure returned to baseline, well-controlled on amlodipine.

Discussion

Our case illustrates disproportionate elevation in androstenedione levels despite normal dehydroepiandrosterone sulfate and testosterone in a woman with ectopic ACTH syndrome. Limited reports have observed similar discordance in androgen profiles in ectopic versus pituitary ACTH hypersecretion, potentially attributable to differential activation of androgen biosynthesis.

Conclusion

Adrenal androgen assessment may help differentiate pituitary versus ectopic ACTH secretion in which androstenedione is elevated, but studies are needed to determine whether disproportionate androstenedione elevation reliably predicts the origin of ACTH excess.

背景/目的：当异位库欣综合征表现为非典型时，其诊断可能具有挑战性。在此，我们强调了一名高血压恶化、低钾血症、促肾上腺皮质激素依赖性皮质醇增多症和血清雄烯二酮水平异常升高的患者的异位促肾上腺皮质素（ACTH）综合征的特征。病例报告：一名59岁女性，表现为快速发展的高血压、严重的低钾血症、意识模糊和虚弱。她的病史包括接受5 mg/天氨氯地平治疗的高血压控制良好，入院前3个月病情恶化，需要氯沙坦和螺内酯治疗，每天补充两次钾。尽管身体质量指数为17 kg/m2，但体检结果显示有瘀伤、肌肉萎缩、四肢消瘦、面部饱胀和腹部肥胖。实验室评估显示钾2.6 mEq/L（3.5-5.3）、早晨皮质醇>50 mcg/dL（8-25），24小时尿皮质醇8369 mcg/天（讨论：我们的病例显示，在一名患有异位ACTH综合征的女性中，尽管脱氢表雄酮硫酸酯和睾酮正常，但雄烯二酮水平却不成比例地升高。有限的报道观察到，异位ACTH高分泌与垂体ACTH高提出中的雄激素水平存在类似的不一致，这可能归因于雄激素生物合成的不同激活。结论：肾上腺雄激素评估可能有助于区分垂体和雄激素二酮升高的异位ACTH分泌，但需要进行研究来确定雄激素二酮过度升高是否可靠地预测ACTH过量的起源。

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引用次数: 2

Familial Hyperphosphatemic Tumoral Calcinosis 家族性高磷血症肿瘤钙化。

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2023-09-01 DOI: 10.1016/j.aace.2023.05.008

Mohammad Saifuddin MD, Indrajit Prasad MD, Mirza Sharifuzzaman MD, Moinul Islam MD, Mobarak Hossain MD

引用次数: 1

Pituitary Stalk Duplication: A Radiological Surprise in a Child With Short Stature 垂体柄重复：一个身材矮小儿童的放射意外。

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2023-09-01 DOI: 10.1016/j.aace.2023.06.004

Surapaneni Lakshmi Sravya MD, Jayshree Swain MD, DM, Jaya Bhanu Kanwar MD, DM, Abhay Kumar Sahoo MD, DM, Swayamsidha Mangaraj MD, DM, Pooja Jadhao MD, Brij Rajesh Teli MD, Kasukurti Lavanya MD

Objective

Pituitary stalk abnormalities are one of the causes of hypopituitarism. Isolated pituitary stalk duplication with a single pituitary gland is extremely rare with only a few cases reported to date. The present case has a different clinical picture as compared to the cases that were previously reported in the literature.

Case Report

A 2 years 6-month-old male child, a product of nonconsanguineous marriage, presented with short stature, micropenis with unilateral undescended testis, and delayed motor milestones. His bone age was delayed by 6 months. On further evaluation, he was found to be euthyroid, with stimulated growth hormone (GH) and stimulated gonadotropin levels were suboptimal, whereas the cortisol and the prolactin were normal. Magnetic resonance imaging of the pituitary revealed pituitary stalk duplication with a single pituitary gland of normal dimensions and fused tuber cinereum and mammillary body.

Discussion

To our knowledge, only 7 cases with isolated pituitary stalk duplication were reported. The presenting complaint could be primarily of hypopituitarism like short stature or a neurologic complaint or ocular abnormality. The pituitary hormone deficiencies are variable with GH deficiency being the most common as seen in our case. Other associated features could be the morning glory disc anomaly, moyamoya disease, pituitary adenoma or hypoplasia, split hypothalamus, and sellar dermoid.

Conclusion

Pituitary stalk duplication is a developmental disorder that is diagnosed only by imaging. Patients should be evaluated for hypopituitarism, particularly the GH and gonadotrophins deficiency, and also screened for associated neurologic and ocular abnormalities.

目的：垂体柄异常是垂体功能减退的原因之一。单一垂体的孤立垂体柄重复极为罕见，迄今为止只有少数病例报告。与文献中先前报道的病例相比，本病例的临床情况有所不同。病例报告：一名2岁6个月大的男性儿童，非血亲婚姻的产物，表现为身材矮小、睾丸单侧隐没的微小阴茎和运动里程碑延迟。他的骨龄推迟了6个月。在进一步评估中，他被发现甲状腺功能正常，刺激生长激素（GH）和刺激促性腺激素水平不理想，而皮质醇和泌乳素正常。垂体的磁共振成像显示垂体柄重复，只有一个正常大小的垂体，并融合了灰结节和乳头体。讨论：据我们所知，仅报告了7例孤立性垂体柄重复的病例。主诉可能主要是垂体功能减退，如身材矮小、神经系统主诉或眼部异常。垂体激素缺乏是可变的，GH缺乏是我们病例中最常见的。其他相关特征可能是牵牛花椎间盘异常、烟雾病、垂体腺瘤或发育不全、下丘脑分裂和鞍皮样病变。结论：垂体柄重复是一种只能通过影像学诊断的发育障碍。应评估患者的垂体功能减退，特别是GH和促性腺激素缺乏，并筛查相关的神经和眼部异常。

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引用次数: 2

Rapid-Acting Insulin Used to Treat a Case of Early Cystic Fibrosis–Related Diabetes Complicated by Post Prandial Hypoglycemia 速效胰岛素用于治疗一例早期囊性纤维化相关糖尿病合并餐后低血糖症。

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2023-09-01 DOI: 10.1016/j.aace.2023.07.001

Tamar Wolinsky MD , Barbara Simon MD, FACE

Background/Objective

Cystic fibrosis–related diabetes (CFRD) is one of the most common nonrespiratory complications of cystic fibrosis (CF). There is a lack of clinical research to provide guidance on optimal treatment regimens for various subtypes of CFRD.

Case Report

This case describes an 18-year-old woman, diagnosed with CF in infancy, who presented to our clinic for evaluation of possible CFRD and episodes of hypoglycemia. Subsequent testing revealed normal fasting glucose with elevated blood glucose levels on oral glucose tolerance test, consistent with the diagnosis of CFRD without fasting hyperglycemia. She was found to have large glycemic excursions after carbohydrate-containing meals, followed by delayed postprandial hypoglycemia.

Discussion

We initiated low-dose mealtime rapid-acting analog insulin and saw both a decrease in her postprandial hyperglycemia as well as resolution of her hypoglycemic episodes.

Conclusion

This case highlights the spectrum of pancreatic dysfunction and insulin dysregulation in CFRD as well as the benefit of prandial insulin alone as a treatment option.

背景/目的：囊性纤维化相关糖尿病（CFRD）是囊性纤维化（CF）最常见的非呼吸性并发症之一。目前缺乏临床研究来为各种亚型的慢性疲劳综合征的最佳治疗方案提供指导。病例报告：该病例描述了一名18岁的女性，在婴儿期被诊断为CF，她来到我们的诊所评估可能的CFRD和低血糖发作。随后的测试显示，在口服糖耐量测试中，空腹血糖正常，血糖水平升高，这与没有空腹高血糖的CFRD诊断一致。她被发现在含碳水化合物的膳食后血糖大幅升高，随后出现延迟性餐后低血糖。讨论：我们开始使用低剂量的餐后速效类似胰岛素，发现她的餐后高血糖症有所下降，低血糖发作也有所缓解。结论：该病例突出了CFRD患者的胰腺功能障碍和胰岛素调节障碍，以及单独使用餐后胰岛素作为治疗选择的益处。

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引用次数: 1

Editorial for September/October Issue of AACE Clinical Case Reports 《AACE临床病例报告》9月/10月号社论。

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2023-09-01 DOI: 10.1016/j.aace.2023.09.001

Sina Jasim MD, MPH (Editor in Chief)

引用次数: 0

Alterations in SAMD9, AHSG, FRG2C, and FGFR4 Genes in a Case of Late-Onset Massive Tumoral Calcinosis SAMD9、AHSG、FRG2C和FGFR4基因在迟发性大块性肿瘤钙质沉积症中的改变

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2023-09-01 DOI: 10.1016/j.aace.2023.05.004

Melvin Khee Shing Leow MD, PhD, MMed (Int Med) , Joshur Ang MRes , Xinyan Bi PhD , Ee Tzun Koh MD, MMed (Int Med), MRCP (UK) , Craig McFarlane PhD

Background/Objective

Tumoral calcinosis (TC) is a rare, arcane, and debilitating disorder of phosphate metabolism manifesting as hard masses in soft tissues. Primary hyperphosphatemic TC has been shown to be caused by pathogenic variants in the genes encoding FGF23, GALNT3, and KLOTHO. We report a case of massive TC mechanistically associated with phosphatonin resistance associated with heterozygous alterations in the sterile alfa motif domain–containing protein-9 gene (SAMD9), alfa 2-Heremans-Schmid glycoprotein gene (AHSG), FSHD region gene 2-family member-C gene (FRG2C), and fibroblast growth factor receptor-4 gene (FGFR4).

Case Report

A middle-aged Malay woman with systemic sclerosis presented with painful hard lumps of her axillae, lower limbs, and external genitalia. She was eucalcemic with mild hyperphosphatemia associated with reduced urinary phosphate excretion. Magnetic resonance imaging revealed calcified soft tissue masses. Paradoxically, the serum intact FGF23 level increased to 89.6 pg/mL, corroborated by Western blots, which also showed overexpression of sFRP4 and MEPE, consistent with phosphatonin resistance.

Discussion

Whole genome sequencing identified 2 heterozygous alterations (p.A454T and p.T479M) in SAMD9, 2 heterozygous alterations (p.M248T and p.S256T) in AHSG, a frameshift alteration (p.Arg156fs) in FRG2C, and a heterozygous alteration (p.G388R) in FGFR4, all of which are associated with calcinosis. Nonsynonymous alterations of FRP4 and MEPE were also detected.

Conclusion

This highlights that the simultaneous occurrence of alterations in several genes critical in phosphate homeostasis may trigger massive TC despite their heterozygosity. These findings should prompt functional studies in cell and animal models to reveal mechanistic insights in the pathogenesis of such crippling mineralization disorders.

背景/目的肿瘤性钙沉着病（TC）是一种罕见的、神秘的、使人衰弱的磷酸盐代谢紊乱，表现为软组织中的硬块。原发性高磷血症TC已被证明是由编码FGF23、GALNT3和KLOTHO的基因中的致病性变体引起的。我们报道了一例与磷酸酶抗性相关的大量TC的机制，该抗性与不育的含α基序结构域的蛋白-9基因（SAMD9）、α2-Heremans-Schmid糖蛋白基因（AHSG）、FSHD区基因2-家族成员-C基因（FRG2C）的杂合改变有关，和成纤维细胞生长因子受体-4基因（FGFR4）。病例报告一名患有系统性硬化症的中年马来妇女出现腋窝、下肢和外生殖器疼痛的硬块。她患有高钙血症，伴有轻度高磷血症，尿磷酸盐排泄减少。磁共振成像显示有钙化的软组织肿块。矛盾的是，血清完整的FGF23水平增加到89.6 pg/mL，Western印迹证实了这一点，其还显示sFRP4和MEPE的过度表达，与磷酸酶抗性一致。讨论全基因组测序发现SAMD9中有2个杂合性改变（p.A454T和p.T479M），AHSG中有2种杂合性变化（p.M248T和p.S256T），FRG2C中有一种移码改变（p.Arg156fs），FGFR4中有一个杂合改变（p.G388R），所有这些都与钙化有关。FRP4和MEPE的非同义改变也被检测到。结论这突出表明，几个对磷酸盐稳态至关重要的基因同时发生改变可能会引发大量TC，尽管它们具有杂合性。这些发现应该促使在细胞和动物模型中进行功能研究，以揭示这种致残性矿化障碍发病机制的机制见解。

{"title":"Alterations in SAMD9, AHSG, FRG2C, and FGFR4 Genes in a Case of Late-Onset Massive Tumoral Calcinosis","authors":"Melvin Khee Shing Leow MD, PhD, MMed (Int Med) , Joshur Ang MRes , Xinyan Bi PhD , Ee Tzun Koh MD, MMed (Int Med), MRCP (UK) , Craig McFarlane PhD","doi":"10.1016/j.aace.2023.05.004","DOIUrl":"https://doi.org/10.1016/j.aace.2023.05.004","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Tumoral calcinosis (TC) is a rare, arcane, and debilitating disorder of phosphate metabolism manifesting as hard masses in soft tissues. Primary hyperphosphatemic TC has been shown to be caused by pathogenic variants in the genes encoding FGF23, GALNT3, and KLOTHO. We report a case of massive TC mechanistically associated with phosphatonin resistance associated with heterozygous alterations in the sterile alfa motif domain–containing protein-9 gene (<em>SAMD9</em>), alfa 2-Heremans-Schmid glycoprotein gene (<em>AHSG</em>), FSHD region gene 2-family member-C gene (<em>FRG2C</em>), and fibroblast growth factor receptor-4 gene (<em>FGFR4</em>).</p></div><div><h3>Case Report</h3><p>A middle-aged Malay woman with systemic sclerosis presented with painful hard lumps of her axillae, lower limbs, and external genitalia. She was eucalcemic with mild hyperphosphatemia associated with reduced urinary phosphate excretion. Magnetic resonance imaging revealed calcified soft tissue masses. Paradoxically, the serum intact FGF23 level increased to 89.6 pg/mL, corroborated by Western blots, which also showed overexpression of sFRP4 and MEPE, consistent with phosphatonin resistance.</p></div><div><h3>Discussion</h3><p>Whole genome sequencing identified 2 heterozygous alterations (p.A454T and p.T479M) in <em>SAMD9</em>, 2 heterozygous alterations (p.M248T and p.S256T) in <em>AHSG</em>, a frameshift alteration (p.Arg156fs) in <em>FRG2C</em>, and a heterozygous alteration (p.G388R) in <em>FGFR4</em>, all of which are associated with calcinosis. Nonsynonymous alterations of <em>FRP4</em> and <em>MEPE</em> were also detected.</p></div><div><h3>Conclusion</h3><p>This highlights that the simultaneous occurrence of alterations in several genes critical in phosphate homeostasis may trigger massive TC despite their heterozygosity. These findings should prompt functional studies in cell and animal models to reveal mechanistic insights in the pathogenesis of such crippling mineralization disorders.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"9 5","pages":"Pages 153-157"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49711892","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Reduced Tumor Size of Untreated Papillary Thyroid Carcinoma After Immune Checkpoint Inhibitor–Induced Thyroiditis 免疫检查点抑制剂诱导甲状腺炎后未治疗甲状腺乳头状癌的肿瘤缩小。

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2023-09-01 DOI: 10.1016/j.aace.2023.05.009

Dennis H. Chen MD , Heinz-Josef Lenz MD , Melissa G. Lechner MD/PhD , Trevor E. Angell MD

Background/Objective

Immune checkpoint inhibitors (CPIs) activate antitumoral immune responses and are used to treat multiple types of primary and metastatic malignancies. Thyroid dysfunction is a known immune-related adverse event of CPI therapy. There are few data on the effect of CPI and CPI-induced thyroiditis on primary papillary thyroid carcinoma (PTC). We present a patient who developed CPI-induced thyroiditis during treatment for a nonthyroid malignancy and subsequent regression of a coexisting untreated primary PTC.

Case Report

A 49-year-old man with metastatic colon adenocarcinoma was found to have a large right thyroid nodule with biopsy confirmation of PTC. He did not have compressive symptoms or evidence of metastatic PTC. Resection was not performed because of colon cancer therapy. Treatment with CPI (ezabenlimab, an anti–programmed cell death protein 1 antibody) was initiated for the treatment of colon cancer. Four months after the initiation of CPI therapy, testing showed thyroid–stimulating hormone and free thyroxine levels of 174.9 (0.3-4.0 mIU/L) and 0.67 (0.93-1.70 ng/dL), respectively, consistent with CPI-induced hypothyroidism. Levothyroxine therapy was initiated. Repeat imaging 3 months later demonstrated a decrease in the tumor size to 4.1 × 4.9 × 4.2 cm (calculated volume change, −8.3% from baseline). At the last imaging, 1 year after the onset of CPI-induced thyroiditis, the PTC continued to decrease in size and measured 2.9 × 3.9 × 3.2 cm (volume change, −60.7% from baseline).

Discussion

CPI-induced thyroiditis suggests the development of an immune response against thyroid tissue and may reflect a similar increased immune response against PTC cells leading to tumor regression in this case.

Conclusion

Further research to assess the immunologic mechanism underlying this association is warranted to potentially develop improved immunotherapy for PTC.

背景/目的：免疫检查点抑制剂（CPIs）可激活抗肿瘤免疫反应，用于治疗多种原发性和转移性恶性肿瘤。甲状腺功能障碍是已知的CPI治疗的免疫相关不良事件。关于CPI和CPI诱导的甲状腺炎对原发性乳头状甲状腺癌（PTC）的影响，目前尚无相关数据。我们报告了一名患者，他在非甲状腺恶性肿瘤的治疗过程中发生了CPI诱导的甲状腺炎，随后并发未经治疗的原发性PTC消退。病例报告：一名49岁的转移性结肠腺癌患者被发现有一个巨大的右甲状腺结节，活检证实为PTC。他没有压迫性症状，也没有转移性PTC的证据。因结肠癌癌症治疗而未进行切除手术。开始用CPI（ezabenlimab，一种抗程序性细胞死亡蛋白1抗体）治疗结肠癌。CPI治疗开始四个月后，测试显示促甲状腺激素和游离甲状腺素水平分别为174.9（0.3-4.0 mIU/L）和0.67（0.93-1.70 ng/dL），与CPI诱导的甲状腺功能减退一致。开始使用左旋甲状腺素治疗。3个月后的重复成像显示肿瘤大小减小到4.1×4.9×4.2厘米（计算体积变化，与基线相比为-8.3%）。在CPI诱导的甲状腺炎发作1年后的最后一次成像中，PTC的大小继续减小，测量值为2.9×3.9×3.2cm（体积变化，比基线变化-60.7%）。讨论：CPI诱导的甲状腺炎表明对甲状腺组织产生了免疫反应，并可能反映出对PTC细胞的类似免疫反应增加，导致这种情况下的肿瘤消退。结论：有必要进一步研究评估这种关联的免疫机制，以开发潜在的改进PTC免疫疗法。

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引用次数: 2

Diabetes Mellitus Type 1 Presenting in the Setting of Diabetic Ketoacidosis and Acute SARS-CoV-2 Infection in Pregnancy 妊娠期出现糖尿病酮症酸中毒和急性SARS-CoV-2感染的1型糖尿病

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2023-07-01 DOI: 10.1016/j.aace.2023.04.006

George A. Stamatiades MD , Francesca Galbiati MD , Alison Conway Fitzgerald MD , Marie E. McDonnell MD , Sarah C. Lassey MD , Nadine E. Palermo DO

Background/Objective

Diabetic ketoacidosis (DKA) during pregnancy is an obstetric emergency associated with a higher rate of maternofetal morbidity and mortality. Pregnancy itself is a ketosis-prone state and several unique mechanisms predispose to the development of insulin resistance, which can be further exacerbated by acute stressors such as infection. Thus, pregnant patients who additionally contract COVID-19 may be at an even higher risk of development of DKA.

Case Report

A 32-year-old patient, with no prior history of impaired glucose tolerance, presented at 27 weeks of gestation with a 3-day history of shortness of breath, congestion, loss of taste and smell, polyuria, and polydipsia. Biochemical evaluation was consistent with DKA. Subsequently, she was diagnosed with acute SARS-CoV-2 infection. Treatment included intravenous hydration, electrolyte replacement, and insulin infusion. Postpartum phenotypic evaluation confirmed autoimmune diabetes (positive GAD-65 and zinc T8 antibodies) with residual β-cell function. Six months postpartum, glycemic control remains at goal with basal- bolus insulin regimen.

Discussion

This case describes the peculiar ability of SARS-CoV-2 infection to potentially rouse autoimmunity and how COVID-19 and DKA in pregnancy can be particularly challenging given the risk of significant maternal and fetal morbidity and mortality.

Conclusion

Prompt diagnosis and evaluation of DKA in pregnancy as well as a higher level of suspicion is needed in the setting of SARS-CoV-2 infection. Additionally, this case depicts the need for closely monitoring the postpartum period for patients at risk of autoimmune disease, which may have been blunted in pregnancy.

背景/目的妊娠期糖尿病酮症酸中毒（DKA）是一种产科急诊，其母体发病率和死亡率较高。妊娠本身是一种酮症易发状态，有几种独特的机制易导致胰岛素抵抗的发展，而感染等急性应激源可能会进一步加剧胰岛素抵抗。因此，额外感染新冠肺炎的孕妇患DKA的风险可能更高。病例报告一名32岁的患者，既往无糖耐量受损史，在妊娠27周时出现呼吸急促、充血、味觉和嗅觉丧失、多尿和多饮的3天病史。生化评价与DKA一致。随后，她被诊断为急性严重急性呼吸系统综合征冠状病毒2型感染。治疗包括静脉补水、电解质置换和胰岛素输注。产后表型评估证实自身免疫性糖尿病（GAD-65和锌T8抗体阳性）具有残余β细胞功能。产后六个月，通过基础的胰岛素推注方案，血糖控制仍然是目标。讨论该病例描述了SARS-CoV-2感染潜在激发自身免疫的特殊能力，以及考虑到孕产妇和胎儿发病率和死亡率高的风险，妊娠期新冠肺炎和DKA可能特别具有挑战性。结论在严重急性呼吸系统综合征冠状病毒2型感染的情况下，需要及时诊断和评估妊娠期DKA，并提高怀疑水平。此外，该病例表明，需要密切监测有自身免疫性疾病风险的患者的产后情况，而这种疾病在妊娠期可能已经减弱。

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引用次数: 1