AACE Clinical Case Reports最新文献_第3页

Hypoglycemia After Ingestion of “Street Valium” Containing Glyburide, Alcohol, and Cocaine 摄入含格列本脲、酒精和可卡因的 "街头安定 "后出现低血糖症

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2024-07-01 DOI: 10.1016/j.aace.2024.04.005

Amanda L. McKenna MD , Jessica R. Wilson MD , Adrian G. Dumitrascu MD , Shon E. Meek MD, PhD , Ana-Maria Chindris MD

Background/Objective

Because of their similar appearance and inexpensive cost, sulfonylureas can cause hypoglycemia when substituted for benzodiazepines by the illicit drug market. We present a patient who developed hypoglycemia after ingestion of what she thought to be Valium; work-up revealed sulfonylurea exposure.

Case Report

A 33-year-old patient was brought to the hospital after being found unresponsive by paramedics with a reported venous blood glucose level of 18 mg/dL (reference range, 70-140 mg/dL). This prompted treatment with 12.5 g of dextrose administered intravenously. At the hospital, the venous blood glucose level was 15 mg/dL resulting in intravenous dextrose infusion initiation. Once stable, the patient endorsed a medical history of substance use disorder and anxiety. She reported ingesting 2 blue pills given to her by a friend as Valium for her anxiety. Laboratory values showed an elevated insulin level of 47.4 mIU/mL (2.6-24.9), an elevated C-peptide level of 5.4 ng/mL (1.1-4.4), and a glucose level of 44 mg/dL (>70 mg/dL). The patient underwent a 72-hour fasting test. Blood hypoglycemia agent screening showed positive results for glyburide (>5 ng/mL). The patient was discharged home in stable condition.

Discussion

There are approximately 2 to 5 case reports of hypoglycemia among persons taking illicit drugs containing sulfonylureas. Laboratory values consistent with the use of a hypoglycemic agent include elevated insulin and C-peptide levels, a low glucose level, and positive results for hypoglycemia agent screening.

Conclusion

Sulfonylurea-induced hypoglycemia may lead to clinical sedation, mimicking the effects of benzodiazepines. Sulfonylurea substitution or drug contamination should be suspected when severe hypoglycemia is diagnosed in unresponsive patients suspected of taking illicit drugs.

背景/目的由于磺脲类药物外观相似且价格低廉，因此当非法药物市场用其替代苯二氮卓类药物时可能会导致低血糖。病例报告一名 33 岁的患者在被医护人员发现无反应后被送往医院，其静脉血糖水平为 18 mg/dL（参考范围为 70-140 mg/dL）。医护人员随即为其静脉注射了 12.5 克葡萄糖。在医院，静脉血糖水平为 15 毫克/分升，因此开始静脉输注葡萄糖。病情稳定后，患者陈述了药物使用障碍和焦虑的病史。她说朋友给了她两片蓝色药片，说她服用安定治疗焦虑。实验室数值显示，胰岛素水平升高至 47.4 mIU/mL (2.6-24.9)，C 肽水平升高至 5.4 ng/mL (1.1-4.4)，葡萄糖水平为 44 mg/dL (70mg/dL)。患者接受了 72 小时空腹测试。血液低血糖制剂筛查显示，甘舒霖（>5 ng/mL）呈阳性结果。讨论在服用含有磺脲类药物的非法药物的人群中，大约有 2 到 5 例低血糖症报告。与使用降糖药物相符的实验室值包括胰岛素和 C 肽水平升高、血糖水平较低以及降糖药物筛查结果呈阳性。当怀疑服用违禁药物的无反应患者被诊断出严重低血糖时，应怀疑磺酰脲类替代品或药物污染。

{"title":"Hypoglycemia After Ingestion of “Street Valium” Containing Glyburide, Alcohol, and Cocaine","authors":"Amanda L. McKenna MD , Jessica R. Wilson MD , Adrian G. Dumitrascu MD , Shon E. Meek MD, PhD , Ana-Maria Chindris MD","doi":"10.1016/j.aace.2024.04.005","DOIUrl":"10.1016/j.aace.2024.04.005","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Because of their similar appearance and inexpensive cost, sulfonylureas can cause hypoglycemia when substituted for benzodiazepines by the illicit drug market. We present a patient who developed hypoglycemia after ingestion of what she thought to be Valium; work-up revealed sulfonylurea exposure.</p></div><div><h3>Case Report</h3><p>A 33-year-old patient was brought to the hospital after being found unresponsive by paramedics with a reported venous blood glucose level of 18 mg/dL (reference range, 70-140 mg/dL). This prompted treatment with 12.5 g of dextrose administered intravenously. At the hospital, the venous blood glucose level was 15 mg/dL resulting in intravenous dextrose infusion initiation. Once stable, the patient endorsed a medical history of substance use disorder and anxiety. She reported ingesting 2 blue pills given to her by a friend as Valium for her anxiety. Laboratory values showed an elevated insulin level of 47.4 mIU/mL (2.6-24.9), an elevated C-peptide level of 5.4 ng/mL (1.1-4.4), and a glucose level of 44 mg/dL (>70 mg/dL). The patient underwent a 72-hour fasting test. Blood hypoglycemia agent screening showed positive results for glyburide (>5 ng/mL). The patient was discharged home in stable condition.</p></div><div><h3>Discussion</h3><p>There are approximately 2 to 5 case reports of hypoglycemia among persons taking illicit drugs containing sulfonylureas. Laboratory values consistent with the use of a hypoglycemic agent include elevated insulin and C-peptide levels, a low glucose level, and positive results for hypoglycemia agent screening.</p></div><div><h3>Conclusion</h3><p>Sulfonylurea-induced hypoglycemia may lead to clinical sedation, mimicking the effects of benzodiazepines. Sulfonylurea substitution or drug contamination should be suspected when severe hypoglycemia is diagnosed in unresponsive patients suspected of taking illicit drugs.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 4","pages":"Pages 149-151"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000403/pdfft?md5=20cf5d7ce3258f26993df7e79640e5b6&pid=1-s2.0-S2376060524000403-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140764482","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

Concurrent Papillary Craniopharyngioma and Growth Hormone-Secreting Pituitary Adenoma: A Rare and Aggressive Collision Tumor 并发乳头状颅咽管瘤和分泌生长激素的垂体腺瘤：一种罕见的侵袭性碰撞肿瘤

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2024-07-01 DOI: 10.1016/j.aace.2024.04.003

Alyssa J. Mancini MD , Ribu Mathew MD , Jaymie Oentoro MD , Alma M. Devine MD , Carolyn Maxwell MD, ECNU , Igor Kravets MD, FACP, FACE

Background/Objective

Collision tumors composed of craniopharyngiomas and pituitary adenomas are extremely rare. We report a collision tumor formed by a papillary craniopharyngioma and a growth hormone-secreting pituitary adenoma, which is the first report of such a tumor, to the best of our knowledge.

Case Report

A 49-year-old man presented with 2 months of headaches and blurry vision. An exam demonstrated frontal bossing, enlarged jaw and hands, macroglossia, and bitemporal hemianopsia, and magnetic resonance imaging (MRI) showed a 4.1 cm sellar/suprasellar mass with mass effect on the optic chiasm. The tumor was resected twice via a craniotomy, the second time due to interval growth, with the pathology after both surgeries showing a papillary craniopharyngioma. IGF-1 was 517 ng/mL (68-225) and growth hormone suppression test was positive. Repeat MRI showed residual tumor with ongoing mass effect on the optic chiasm and radiation therapy was initiated. MRI showed interval growth of the mass and IGF-1 rose to 700 ng/mL after which the patient underwent a transsphenoidal resection of the tumor; the pathology showed a residual papillary craniopharyngioma and a PIT1 lineage adenoma with most cells expressing growth hormone. After developing numerous complications, the patient passed away.

Discussion

Collision tumors of the sella are often associated with an aggressive clinical course, as they often go undiagnosed preoperatively, thus reducing the likelihood of total resection and leading to higher rates of craniopharyngioma recurrence.

Conclusion

A pituitary mass with an aggressive clinical course should prompt a high index of suspicion for a sellar collision tumor, though prognosis remains poor.

背景/目的由颅咽管瘤和垂体腺瘤组成的碰撞性肿瘤极为罕见。我们报告了一起由乳头状颅咽管瘤和分泌生长激素的垂体腺瘤组成的碰撞性肿瘤，据我们所知，这是首次报告此类肿瘤。磁共振成像（MRI）显示有一个 4.1 厘米的蝶鞍/鞍上肿块，肿块影响视交叉。肿瘤经过两次开颅手术切除，第二次是由于间隔生长，两次手术后的病理结果均显示为乳头状颅咽管瘤。IGF-1为517纳克/毫升（68-225），生长激素抑制试验呈阳性。复查磁共振成像显示肿瘤残留，并对视丘产生持续的肿块效应，于是开始进行放射治疗。核磁共振成像显示肿块呈间歇性生长，IGF-1升至700纳克/毫升，随后患者接受了经蝶窦肿瘤切除术；病理显示为残留乳头状颅咽管瘤和PIT1系腺瘤，大部分细胞表达生长激素。讨论蝶鞍撞击瘤的临床表现往往具有侵袭性，因为它们往往在术前未被诊断出来，从而降低了完全切除的可能性，导致颅咽管瘤的复发率升高。

{"title":"Concurrent Papillary Craniopharyngioma and Growth Hormone-Secreting Pituitary Adenoma: A Rare and Aggressive Collision Tumor","authors":"Alyssa J. Mancini MD , Ribu Mathew MD , Jaymie Oentoro MD , Alma M. Devine MD , Carolyn Maxwell MD, ECNU , Igor Kravets MD, FACP, FACE","doi":"10.1016/j.aace.2024.04.003","DOIUrl":"10.1016/j.aace.2024.04.003","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Collision tumors composed of craniopharyngiomas and pituitary adenomas are extremely rare. We report a collision tumor formed by a papillary craniopharyngioma and a growth hormone-secreting pituitary adenoma, which is the first report of such a tumor, to the best of our knowledge.</p></div><div><h3>Case Report</h3><p>A 49-year-old man presented with 2 months of headaches and blurry vision. An exam demonstrated frontal bossing, enlarged jaw and hands, macroglossia, and bitemporal hemianopsia, and magnetic resonance imaging (MRI) showed a 4.1 cm sellar/suprasellar mass with mass effect on the optic chiasm. The tumor was resected twice via a craniotomy, the second time due to interval growth, with the pathology after both surgeries showing a papillary craniopharyngioma. IGF-1 was 517 ng/mL (68-225) and growth hormone suppression test was positive. Repeat MRI showed residual tumor with ongoing mass effect on the optic chiasm and radiation therapy was initiated. MRI showed interval growth of the mass and IGF-1 rose to 700 ng/mL after which the patient underwent a transsphenoidal resection of the tumor; the pathology showed a residual papillary craniopharyngioma and a PIT1 lineage adenoma with most cells expressing growth hormone. After developing numerous complications, the patient passed away.</p></div><div><h3>Discussion</h3><p>Collision tumors of the sella are often associated with an aggressive clinical course, as they often go undiagnosed preoperatively, thus reducing the likelihood of total resection and leading to higher rates of craniopharyngioma recurrence.</p></div><div><h3>Conclusion</h3><p>A pituitary mass with an aggressive clinical course should prompt a high index of suspicion for a sellar collision tumor, though prognosis remains poor.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 4","pages":"Pages 144-148"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S237606052400035X/pdfft?md5=b176a0672547657c420e958f03827c73&pid=1-s2.0-S237606052400035X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140785460","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

Editorial for July/August Issue of AACE Clinical Case Reports AACE 临床病例报告》7/8 月刊社论

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2024-07-01 DOI: 10.1016/j.aace.2024.06.003

Sina Jasim MD, MPH (Editor in Chief)

引用次数: 0

Acceleration of Preexisting Aortic Stenosis After Teriparatide Initiation 开始使用特立帕肽后，原有主动脉瓣狭窄的速度加快

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2024-07-01 DOI: 10.1016/j.aace.2024.04.006

Jayachidambaram Ambalavanan MD , Carlos Hubbard MD, PhD , Leila Zeinab Khan MD

Background/Objective

Teriparatide, an osteoanabolic agent similar to parathyroid hormone in properties, is used to manage severe osteoporosis. Aortic valve stenosis is a common valve condition observed in the elderly. Its natural history includes gradual progression toward severity. We present a case of a patient who had rapidly progressive aortic stenosis after teriparatide initiation.

Case Report

An 84-year-old woman who was diagnosed with osteoporosis was treated with oral bisphosphonates. When she had spinal compression fractures, she was found to have primary hyperparathyroidism. She underwent parathyroidectomy and was treated with denosumab infusions every 6 months. However, after she experienced bilateral atypical femoral fractures, she was switched to teriparatide daily injections. Her laboratory test results showed a calcium level of 10 mg/dL (reference range, 8.5-10.2 mg/dL), 25-hydroxyvitamin D level of 38.2 ng/mL (reference range, 31.0-80.0 ng/mL), and phosphorus level of 3.3 mg/dL (reference, range, 2.7-4.8 mg/dL). On reviewing echocardiograms before and after teriparatide initiation, we found a rapid progression of her aortic stenosis from moderate to severe based on the mean gradients (23 to 40 mm Hg) and peak velocities (3.09 to 4 m/s), over a span of 10 months. She eventually required valve replacement.

Discussion

Natural progression of mild to severe aortic stenosis typically occurs at the rate of 3 to 7 mm Hg per year over several years. Chronic exposure of human valvular endothelial cells to parathyroid hormone can trigger endothelial dysfunction and valvular calcification.

Conclusion

In patients with preexisting aortic stenosis, coordination of care with cardiology and echocardiographic monitoring while on therapy may be considered.

背景/目的特立帕肽是一种类似于甲状旁腺激素的促骨合成药物，用于治疗严重的骨质疏松症。主动脉瓣狭窄是老年人常见的瓣膜疾病。其自然病史包括病情逐渐恶化。病例报告一位 84 岁的妇女被诊断出患有骨质疏松症，并接受了口服双膦酸盐治疗。当她出现脊柱压缩性骨折时，她被发现患有原发性甲状旁腺功能亢进症。她接受了甲状旁腺切除术，并每 6 个月接受一次地诺单抗输注治疗。然而，在她出现双侧非典型股骨骨折后，她转为每天注射特立帕肽。化验结果显示，她的血钙水平为 10 毫克/分升（参考范围：8.5-10.2 毫克/分升），25-羟维生素 D 水平为 38.2 纳克/毫升（参考范围：31.0-80.0 纳克/毫升），血磷水平为 3.3 毫克/分升（参考范围：2.7-4.8 毫克/分升）。根据平均梯度（23 到 40 毫米汞柱）和峰值速度（3.09 到 4 米/秒），在 10 个月的时间里，她的主动脉瓣狭窄从中度迅速发展到重度。讨论轻度至重度主动脉瓣狭窄的自然进展通常在数年内以每年 3 至 7 毫米汞柱的速度发生。人类瓣膜内皮细胞长期暴露于甲状旁腺激素可引发内皮功能障碍和瓣膜钙化。结论对于已有主动脉瓣狭窄的患者，在治疗期间可考虑与心脏病科协调护理并进行超声心动图监测。

{"title":"Acceleration of Preexisting Aortic Stenosis After Teriparatide Initiation","authors":"Jayachidambaram Ambalavanan MD , Carlos Hubbard MD, PhD , Leila Zeinab Khan MD","doi":"10.1016/j.aace.2024.04.006","DOIUrl":"https://doi.org/10.1016/j.aace.2024.04.006","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Teriparatide, an osteoanabolic agent similar to parathyroid hormone in properties, is used to manage severe osteoporosis. Aortic valve stenosis is a common valve condition observed in the elderly. Its natural history includes gradual progression toward severity. We present a case of a patient who had rapidly progressive aortic stenosis after teriparatide initiation.</p></div><div><h3>Case Report</h3><p>An 84-year-old woman who was diagnosed with osteoporosis was treated with oral bisphosphonates. When she had spinal compression fractures, she was found to have primary hyperparathyroidism. She underwent parathyroidectomy and was treated with denosumab infusions every 6 months. However, after she experienced bilateral atypical femoral fractures, she was switched to teriparatide daily injections. Her laboratory test results showed a calcium level of 10 mg/dL (reference range, 8.5-10.2 mg/dL), 25-hydroxyvitamin D level of 38.2 ng/mL (reference range, 31.0-80.0 ng/mL), and phosphorus level of 3.3 mg/dL (reference, range, 2.7-4.8 mg/dL). On reviewing echocardiograms before and after teriparatide initiation, we found a rapid progression of her aortic stenosis from moderate to severe based on the mean gradients (23 to 40 mm Hg) and peak velocities (3.09 to 4 m/s), over a span of 10 months. She eventually required valve replacement.</p></div><div><h3>Discussion</h3><p>Natural progression of mild to severe aortic stenosis typically occurs at the rate of 3 to 7 mm Hg per year over several years. Chronic exposure of human valvular endothelial cells to parathyroid hormone can trigger endothelial dysfunction and valvular calcification.</p></div><div><h3>Conclusion</h3><p>In patients with preexisting aortic stenosis, coordination of care with cardiology and echocardiographic monitoring while on therapy may be considered.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 4","pages":"Pages 152-155"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000415/pdfft?md5=40659b8cc7d61ac36d9be34beecca49d&pid=1-s2.0-S2376060524000415-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141607735","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

Hypertension in a Patient With Polycystic Kidney Disease Complicated by Concomitant Pheochromocytoma 一名并发嗜铬细胞瘤的多囊肾患者的高血压问题

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2024-07-01 DOI: 10.1016/j.aace.2024.04.001

Adelina Ameti MD , Peter A. Kopp MD , Nelly Pitteloud MD , Grégoire Wuerzner MD , Eric Grouzmann PharmD, PhD , Maurice Matter MD , Faiza Lamine MD , Olivier Phan MD

Background

Due to the high prevalence of hypertension in patients with autosomal dominant polycystic kidney disease (ADPKD) and advanced chronic kidney disease, diagnosing secondary hypertension poses challenges. We present a rare case of pheochromocytoma in an ADPKD patient to highlight the diagnostic difficulties in identifying secondary hypertension due to pheochromocytoma/paraganglioma (PPGL) in end-stage renal disease (ESRD) patients.

Case Report

A 48-year-old female with ADPKD and ESRD experienced recurrent hypertensive crises (up to 220/135 mmHg) accompanied by palpitations and tremors that recurred over the past 2 years. Introduction of a betablocker to the antihypertensive therapy aggravated her symptoms. The initial documentation of elevated urinary metanephrines was interpreted as false positive finding due to renal failure. Subsequent measurements of free plasma metanephrines revealed significant elevations raising suspicion of PPGL. Magnetic resonance imaging identified a 29 mm right adrenal mass. The patient underwent right adrenalectomy resulting in resolution of the hypertensive crises.

Discussion

The diagnosis of PPGLs can present significant challenges and is further complicated in ESRD due to nonspecific clinical symptoms and diagnostic pitfalls. Less than 20 PPGL cases have been reported in patients with ESRD. The intolerance of beta-blocker therapy, as well as the use of a scoring system for the likelihood of PPGL should have raised suspicion.

Conclusion

PPGL should be considered in all patients with uncontrolled hypertension and beta-blockers intolerance, even in the presence of other etiologic mechanisms such as ESRD. Measuring free plasma metanephrines provides the most reliable biochemical screening in the context of impaired renal function.

背景由于高血压在常染色体显性多囊肾病（ADPKD）和晚期慢性肾病患者中的高发率，继发性高血压的诊断面临挑战。病例报告：一名患有 ADPKD 和 ESRD 的 48 岁女性患者在过去 2 年中反复出现高血压危象（高达 220/135 mmHg），并伴有心悸和震颤。在降压治疗中加入受体阻滞剂后，她的症状更加严重。最初记录的尿中甲氧基肾上腺素升高被解释为肾功能衰竭导致的假阳性结果。随后对游离血浆中的甲肾上腺素进行测量后发现其明显升高，这引起了对 PPGL 的怀疑。磁共振成像发现了一个 29 毫米的右肾上腺肿块。讨论由于非特异性临床症状和诊断误区，PPGL 的诊断面临巨大挑战，在 ESRD 患者中更为复杂。据报道，ESRD 患者中的 PPGL 病例不足 20 例。即使存在 ESRD 等其他病因，也应考虑所有高血压未得到控制且不能耐受β-受体阻滞剂的患者。在肾功能受损的情况下，测量游离血浆中的甲肾上腺素是最可靠的生化筛查方法。

{"title":"Hypertension in a Patient With Polycystic Kidney Disease Complicated by Concomitant Pheochromocytoma","authors":"Adelina Ameti MD , Peter A. Kopp MD , Nelly Pitteloud MD , Grégoire Wuerzner MD , Eric Grouzmann PharmD, PhD , Maurice Matter MD , Faiza Lamine MD , Olivier Phan MD","doi":"10.1016/j.aace.2024.04.001","DOIUrl":"10.1016/j.aace.2024.04.001","url":null,"abstract":"<div><h3>Background</h3><p>Due to the high prevalence of hypertension in patients with autosomal dominant polycystic kidney disease (ADPKD) and advanced chronic kidney disease, diagnosing secondary hypertension poses challenges. We present a rare case of pheochromocytoma in an ADPKD patient to highlight the diagnostic difficulties in identifying secondary hypertension due to pheochromocytoma/paraganglioma (PPGL) in end-stage renal disease (ESRD) patients.</p></div><div><h3>Case Report</h3><p>A 48-year-old female with ADPKD and ESRD experienced recurrent hypertensive crises (up to 220/135 mmHg) accompanied by palpitations and tremors that recurred over the past 2 years. Introduction of a betablocker to the antihypertensive therapy aggravated her symptoms. The initial documentation of elevated urinary metanephrines was interpreted as false positive finding due to renal failure. Subsequent measurements of free plasma metanephrines revealed significant elevations raising suspicion of PPGL. Magnetic resonance imaging identified a 29 mm right adrenal mass. The patient underwent right adrenalectomy resulting in resolution of the hypertensive crises.</p></div><div><h3>Discussion</h3><p>The diagnosis of PPGLs can present significant challenges and is further complicated in ESRD due to nonspecific clinical symptoms and diagnostic pitfalls. Less than 20 PPGL cases have been reported in patients with ESRD. The intolerance of beta-blocker therapy, as well as the use of a scoring system for the likelihood of PPGL should have raised suspicion.</p></div><div><h3>Conclusion</h3><p>PPGL should be considered in all patients with uncontrolled hypertension and beta-blockers intolerance, even in the presence of other etiologic mechanisms such as ESRD. Measuring free plasma metanephrines provides the most reliable biochemical screening in the context of impaired renal function.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 4","pages":"Pages 136-139"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000336/pdfft?md5=8921824f9f1cce5eb3c698b936d6d521&pid=1-s2.0-S2376060524000336-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140791144","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

Hypolipidemia due to Familial Hypobetalipoproteinemia in Adolescents 青少年家族性低脂蛋白血症导致的低脂血症

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2024-07-01 DOI: 10.1016/j.aace.2024.03.008

Sabitha Sasidharan Pillai MD , Meghan E. Fredette MD , Jose Bernardo Quintos MD , Lisa Swartz Topor MD, MMSc

Background/Objective

Individuals with heterozygous familial hypobetalipoproteinemia (h-FHBL) due to loss-of-function mutation in the apolipoprotein B gene are typically asymptomatic with mild liver dysfunction, which is often detected incidentally. About 5% to 10% of those with h-FHBL develop steatohepatitis which occasionally progress to cirrhosis especially in the presence of alcohol use, excess calorie consumption, or liver injury. We report 3 patients with hypobetalipoproteinemia, 2 with confirmed h-FHBL, and 1 with suspected h-FHBL.

Case Report

Three asymptomatic adolescents presented with low lipid levels detected on screening laboratory studies. Patient 1, a 13 ⁶/₁₂-year-old male and patient 2, a 15 ⁹/₁₂-year-old female, were siblings. Patient 3 was a 12 ⁶/₁₂-year-old female. All had total cholesterol ranging from 61 to 87 mg/dL, low-density lipoprotein cholesterol 10 to 28 mg/dL, and triglycerides 19 to 36 mg/dL. Aspartate transaminase and alanine transaminase levels were normal in patients 1 and 3 and were elevated in patient 2. Liver ultrasounds of patients 2 and 3 showed hepatic steatosis. Molecular testing identified pathogenic variant of apolipoprotein B gene in patients 1 and 2, c.133C>T(p.Arg.45Ter) confirming the diagnosis of h-FHBL.

Discussion

More studies are needed in children with h-FHBL and other forms of hypobetalipoproteinemia to improve awareness of these disorders and to develop guidelines for monitoring and risk reduction in affected patients.

Conclusion

Health care providers should be aware that persistent hypolipidemia may indicate h-FHBL, which can be a risk factor for liver dysfunction. Youth with h-FHBL should be counseled about lifestyle modifications and screened for the development of metabolic dysfunction–associated steatotic liver disease.

背景/目的由于载脂蛋白B基因功能缺失突变而导致的杂合子家族性低脂蛋白血症（h-FHBL）患者通常无症状，但有轻微的肝功能异常，这种情况通常是偶然发现的。约有5%至10%的h-FHBL患者会发展为脂肪性肝炎，偶尔会发展为肝硬化，尤其是在饮酒、摄入过多热量或肝损伤的情况下。我们报告了 3 例低脂蛋白血症患者，其中 2 例确诊为 h-FHBL，1 例疑似 h-FHBL。患者 1 是一名 13 6/12 岁的男性，患者 2 是一名 15 9/12 岁的女性，他们是同胞兄弟姐妹。患者 3 是一名 12 6/12 岁的女性。他们的总胆固醇都在 61 至 87 毫克/分升之间，低密度脂蛋白胆固醇为 10 至 28 毫克/分升，甘油三酯为 19 至 36 毫克/分升。患者 1 和 3 的天门冬氨酸转氨酶和丙氨酸转氨酶水平正常，而患者 2 的水平升高。患者 2 和 3 的肝脏超声波检查显示肝脏脂肪变性。分子检测发现患者1和2的载脂蛋白B基因存在c.133C>T(p.Arg.45Ter)致病变异，确诊为h-FHBL。讨论需要对患有h-FHBL和其他形式低脂蛋白血症的儿童进行更多的研究，以提高对这些疾病的认识，并为受影响患者制定监测和降低风险的指南。应指导患有h-FHBL的青少年调整生活方式，并筛查代谢功能障碍相关的脂肪性肝病。

{"title":"Hypolipidemia due to Familial Hypobetalipoproteinemia in Adolescents","authors":"Sabitha Sasidharan Pillai MD , Meghan E. Fredette MD , Jose Bernardo Quintos MD , Lisa Swartz Topor MD, MMSc","doi":"10.1016/j.aace.2024.03.008","DOIUrl":"10.1016/j.aace.2024.03.008","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Individuals with heterozygous familial hypobetalipoproteinemia (h-FHBL) due to loss-of-function mutation in the apolipoprotein B gene are typically asymptomatic with mild liver dysfunction, which is often detected incidentally. About 5% to 10% of those with h-FHBL develop steatohepatitis which occasionally progress to cirrhosis especially in the presence of alcohol use, excess calorie consumption, or liver injury. We report 3 patients with hypobetalipoproteinemia, 2 with confirmed h-FHBL, and 1 with suspected h-FHBL.</p></div><div><h3>Case Report</h3><p>Three asymptomatic adolescents presented with low lipid levels detected on screening laboratory studies. Patient 1, a 13 <sup>6</sup>/<sub>12</sub>-year-old male and patient 2, a 15 <sup>9</sup>/<sub>12</sub>-year-old female, were siblings. Patient 3 was a 12 <sup>6</sup>/<sub>12</sub>-year-old female. All had total cholesterol ranging from 61 to 87 mg/dL, low-density lipoprotein cholesterol 10 to 28 mg/dL, and triglycerides 19 to 36 mg/dL. Aspartate transaminase and alanine transaminase levels were normal in patients 1 and 3 and were elevated in patient 2. Liver ultrasounds of patients 2 and 3 showed hepatic steatosis. Molecular testing identified pathogenic variant of apolipoprotein B gene in patients 1 and 2, c.133C>T(p.Arg.45Ter) confirming the diagnosis of h-FHBL.</p></div><div><h3>Discussion</h3><p>More studies are needed in children with h-FHBL and other forms of hypobetalipoproteinemia to improve awareness of these disorders and to develop guidelines for monitoring and risk reduction in affected patients.</p></div><div><h3>Conclusion</h3><p>Health care providers should be aware that persistent hypolipidemia may indicate h-FHBL, which can be a risk factor for liver dysfunction. Youth with h-FHBL should be counseled about lifestyle modifications and screened for the development of metabolic dysfunction–associated steatotic liver disease.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 4","pages":"Pages 132-135"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000324/pdfft?md5=72c9642df0c6c7d59538acbd164a72c9&pid=1-s2.0-S2376060524000324-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140792268","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

Papillary Thyroid Carcinoma, Cushing Disease, and Adrenocortical Carcinoma in a Patient with Li-Fraumeni Syndrome 一名李-弗劳米尼综合征患者的甲状腺乳头状癌、库欣病和肾上腺皮质癌

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2024-07-01 DOI: 10.1016/j.aace.2024.03.007

Jared G. Friedman MD, Ioannis G. Papagiannis MD, FACE

Background/Objective

Li-Fraumeni syndrome (LFS) is an inherited sequence variant in TP53 characterized by the early onset of various core malignancies including adrenocortical carcinoma (ACC), sarcomas, breast cancer, leukemias, and central nervous system tumors. We present a case of a patient with LFS who developed endocrine neoplasms not classically seen in LFS in addition to developing ACC.

Case Report

A 26-year-old nonbinary individual assigned female at birth with a history of LFS complicated by osteosarcoma of the jaw was incidentally found to have thyroid and sellar masses on surveillance magnetic resonance imaging. Fine-needle aspiration of thyroid mass confirmed papillary thyroid carcinoma, and the patient underwent total thyroidectomy. Pituitary workup was notable for laboratory test results consistent with adrenocorticotropic hormone-dependent hypercortisolism; the patient underwent resection of the pituitary lesion. The patient was subsequently noted on abdominal imaging to have a new left adrenal mass; they underwent left adrenalectomy with pathology consistent with ACC.

Discussion

There is limited literature on the relationship between LFS and thyroid and pituitary neoplasms. Genetic testing has suggested that TP53 sequence variants may play a role in tumorigenesis in thyroid and pituitary neoplasms; however, most of the current literature is based on evidence of somatic rather than germline sequence variants.

Conclusion

This case highlights a patient with LFS with neoplasia of multiple endocrine organs including ACC, which is a classic finding, as well as papillary thyroid carcinoma and Cushing disease. Further investigation may be necessary to assess if patients with LFS are at a higher risk of various endocrine neoplasms in addition to the core malignancies classically described because this could affect future screening protocols.

背景/目的李-弗劳米尼综合征（Li-Fraumeni Syndrome，LFS）是一种 TP53 的遗传性序列变异，其特征是各种核心恶性肿瘤的早发，包括肾上腺皮质癌（ACC）、肉瘤、乳腺癌、白血病和中枢神经系统肿瘤。病例报告：一名 26 岁的非二元性患者，出生时被分配为女性，曾有 LFS 病史，并发有颌骨肉瘤，在监测磁共振成像时偶然发现其甲状腺和蝶窦肿块。甲状腺肿块细针穿刺证实为甲状腺乳头状癌，患者接受了甲状腺全切除术。垂体检查发现，实验室检查结果与肾上腺皮质激素依赖性皮质醇增多症一致；患者接受了垂体病变切除术。随后，腹部影像学检查发现患者左侧肾上腺有新的肿块；他们接受了左侧肾上腺切除术，病理结果与 ACC 一致。讨论有关 LFS 与甲状腺和垂体肿瘤之间关系的文献有限。基因检测表明，TP53 序列变异可能在甲状腺和垂体肿瘤的发生过程中起作用；但是，目前大多数文献都是基于体细胞序列变异而非种系变异的证据。除了经典的核心恶性肿瘤外，LFS 患者罹患各种内分泌肿瘤的风险是否更高，这可能会影响未来的筛查方案，因此有必要进行进一步调查。

{"title":"Papillary Thyroid Carcinoma, Cushing Disease, and Adrenocortical Carcinoma in a Patient with Li-Fraumeni Syndrome","authors":"Jared G. Friedman MD, Ioannis G. Papagiannis MD, FACE","doi":"10.1016/j.aace.2024.03.007","DOIUrl":"10.1016/j.aace.2024.03.007","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Li-Fraumeni syndrome (LFS) is an inherited sequence variant in TP53 characterized by the early onset of various core malignancies including adrenocortical carcinoma (ACC), sarcomas, breast cancer, leukemias, and central nervous system tumors. We present a case of a patient with LFS who developed endocrine neoplasms not classically seen in LFS in addition to developing ACC.</p></div><div><h3>Case Report</h3><p>A 26-year-old nonbinary individual assigned female at birth with a history of LFS complicated by osteosarcoma of the jaw was incidentally found to have thyroid and sellar masses on surveillance magnetic resonance imaging. Fine-needle aspiration of thyroid mass confirmed papillary thyroid carcinoma, and the patient underwent total thyroidectomy. Pituitary workup was notable for laboratory test results consistent with adrenocorticotropic hormone-dependent hypercortisolism; the patient underwent resection of the pituitary lesion. The patient was subsequently noted on abdominal imaging to have a new left adrenal mass; they underwent left adrenalectomy with pathology consistent with ACC.</p></div><div><h3>Discussion</h3><p>There is limited literature on the relationship between LFS and thyroid and pituitary neoplasms. Genetic testing has suggested that TP53 sequence variants may play a role in tumorigenesis in thyroid and pituitary neoplasms; however, most of the current literature is based on evidence of somatic rather than germline sequence variants.</p></div><div><h3>Conclusion</h3><p>This case highlights a patient with LFS with neoplasia of multiple endocrine organs including ACC, which is a classic finding, as well as papillary thyroid carcinoma and Cushing disease. Further investigation may be necessary to assess if patients with LFS are at a higher risk of various endocrine neoplasms in addition to the core malignancies classically described because this could affect future screening protocols.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 4","pages":"Pages 127-131"},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000312/pdfft?md5=872a59b421297d284a34e79ef561a790&pid=1-s2.0-S2376060524000312-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140399644","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

Editorial for May/June issue of AACE Clinical Case Reports 为《AACE 临床病例报告》5/6 月刊撰写的社论

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2024-05-01 DOI: 10.1016/j.aace.2024.04.008

Sina Jasim MD, MPH (Editor in Chief)

引用次数: 0

Polyuria, Sinopulmonary Symptoms, and Pituitary Mass 多尿、窦肺症状和垂体肿块

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2024-05-01 DOI: 10.1016/j.aace.2024.02.002

Anita V. Pechenenko MD , Seth J. Van Der Veer DO , Courtney A. Clutter MD

引用次数: 0

A Case of Primary Hyperparathyroidism Secondary to Parathyroid Adenoma in a Pediatric Patient 一例继发于甲状旁腺腺瘤的原发性甲状旁腺功能亢进症儿科患者

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2024-05-01 DOI: 10.1016/j.aace.2024.02.008

Gannon J. Ray MD , Joe S. Liles MD , Whei Ying Lim MBBS

Background/Objective

Although common in adults, primary hyperparathyroidism (PHPT) is a rare condition in children with the most common etiology being solitary parathyroid adenoma (PTA). The typical presentation is symptomatic hypercalcemia. Management of PHTP secondary to PTA requires excision of the adenoma.

Case Report

A 13-year-old adolescent boy presented because of orbital cellulitis and was noted to have hypercalcemia. Despite this, the patient was curiously asymptomatic. Further investigations yielded an elevated parathyroid hormone (PTH) level and a normal urine calcium-to-creatinine ratio making the most likely cause of hypercalcemia PHTP secondary to PTA. Imaging demonstrated PTA. The patient underwent parathyroidectomy with the pathology demonstrating PTA. Postoperatively, the PTH levels were undetectable; hence, the patient was treated with calcitriol and calcium supplementation for 1 month and 4 months, respectively. Genetic work-up for multiple endocrine neoplasia 1 and rearranged during transfection mutations was negative.

Discussion

Solitary PTA is the most common cause of PHPT. Adenomas are mostly sporadic or may be a manifestation of an inheritable syndrome, such as multiple endocrine neoplasia. Although symptomatic disease is more common in children, our patient denied any hypercalcemia symptoms. The distinguishing biochemical feature of PHPT because of PTA is high or inappropriately normal PTH level in the context of high-normal or elevated serum calcium levels. Urinary calcium excretion is usually normal or high. PTAs are localized by ultrasound and Tc-99m-Sestamibi scintigraphy. Management includes parathyroidectomy and monitoring for postoperative hypocalcemia.

Conclusion

In a child or adolescent presenting with hypercalcemia and elevated PTH levels, it is important to consider PHPT secondary to PTA, because an early diagnosis will aid in preventing complications from hypercalcemia.

背景/目的原发性甲状旁腺功能亢进症（PHPT）虽然常见于成人，但在儿童中却很罕见，最常见的病因是单发性甲状旁腺腺瘤（PTA）。典型的表现是无症状性高钙血症。治疗继发于PTA的PHTP需要切除腺瘤。病例报告：一名13岁的青少年男孩因眼眶蜂窝组织炎就诊，被发现患有高钙血症。尽管如此，患者却奇怪地没有任何症状。进一步检查发现甲状旁腺激素（PTH）水平升高，尿钙肌酐比值正常，因此高钙血症最可能的原因是继发于PTA的PHTP。影像学检查显示患者患有PTA。患者接受了甲状旁腺切除术，病理结果显示为 PTA。术后，PTH水平检测不到，因此患者分别接受了为期1个月和4个月的降钙素三醇和钙补充剂治疗。多发性内分泌肿瘤 1 和转染过程中重排突变的基因检查结果均为阴性。腺瘤多为散发性，也可能是遗传综合征（如多发性内分泌肿瘤）的一种表现形式。虽然有症状的疾病多见于儿童，但我们的患者否认有任何高钙血症症状。由 PTA 引起的 PHPT 的生化特征是在血清钙水平正常或升高的情况下，PTH 水平偏高或不正常。尿钙排泄通常正常或偏高。PTA可通过超声和Tc-99m-Sestamibi闪烁扫描进行定位。结论如果儿童或青少年出现高钙血症和 PTH 水平升高，必须考虑继发于 PTA 的 PHPT，因为早期诊断有助于预防高钙血症引起的并发症。

{"title":"A Case of Primary Hyperparathyroidism Secondary to Parathyroid Adenoma in a Pediatric Patient","authors":"Gannon J. Ray MD , Joe S. Liles MD , Whei Ying Lim MBBS","doi":"10.1016/j.aace.2024.02.008","DOIUrl":"10.1016/j.aace.2024.02.008","url":null,"abstract":"<div><h3>Background/Objective</h3><p>Although common in adults, primary hyperparathyroidism (PHPT) is a rare condition in children with the most common etiology being solitary parathyroid adenoma (PTA). The typical presentation is symptomatic hypercalcemia. Management of PHTP secondary to PTA requires excision of the adenoma.</p></div><div><h3>Case Report</h3><p>A 13-year-old adolescent boy presented because of orbital cellulitis and was noted to have hypercalcemia. Despite this, the patient was curiously asymptomatic. Further investigations yielded an elevated parathyroid hormone (PTH) level and a normal urine calcium-to-creatinine ratio making the most likely cause of hypercalcemia PHTP secondary to PTA. Imaging demonstrated PTA. The patient underwent parathyroidectomy with the pathology demonstrating PTA. Postoperatively, the PTH levels were undetectable; hence, the patient was treated with calcitriol and calcium supplementation for 1 month and 4 months, respectively. Genetic work-up for multiple endocrine neoplasia 1 and rearranged during transfection mutations was negative.</p></div><div><h3>Discussion</h3><p>Solitary PTA is the most common cause of PHPT. Adenomas are mostly sporadic or may be a manifestation of an inheritable syndrome, such as multiple endocrine neoplasia. Although symptomatic disease is more common in children, our patient denied any hypercalcemia symptoms. The distinguishing biochemical feature of PHPT because of PTA is high or inappropriately normal PTH level in the context of high-normal or elevated serum calcium levels. Urinary calcium excretion is usually normal or high. PTAs are localized by ultrasound and Tc-99m-Sestamibi scintigraphy. Management includes parathyroidectomy and monitoring for postoperative hypocalcemia.</p></div><div><h3>Conclusion</h3><p>In a child or adolescent presenting with hypercalcemia and elevated PTH levels, it is important to consider PHPT secondary to PTA, because an early diagnosis will aid in preventing complications from hypercalcemia.</p></div>","PeriodicalId":7051,"journal":{"name":"AACE Clinical Case Reports","volume":"10 3","pages":"Pages 97-100"},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2376060524000245/pdfft?md5=c24dd3cc277ea6079452baa6c35277c6&pid=1-s2.0-S2376060524000245-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140462988","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