AACE Clinical Case Reports最新文献_第9页

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。

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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

Hyperglycemia Associated With Raynaud Phenomenon and Liver Dysfunction After COVID-19 Vaccination in Type 1 Diabetes Mellitus 1型糖尿病患者接种COVID-19后高血糖与雷诺现象和肝功能障碍相关

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2023-07-01 DOI: 10.1016/j.aace.2023.05.006

Zhanna Zavgorodneva MD , Calvin Jialin Zhang , Maksym Bondiuk MD , Tooraj Zahedi MD

Background/Objective

The association of COVID-19 vaccinations and the changes in glycemic control remains debatable. We report a case of a patient with type 1 diabetes mellitus (DM) with previously well-controlled glucose on a hybrid closed-loop insulin pump who developed significant glucose variation, new onset Raynaud phenomenon, and liver dysfunction after the vaccination.

Case Report

A 33-year-old man with type 1 DM since the age of 5 years was on an insulin pump for 17 years. He had a reasonable controlled glucose level with a hemoglobin A1c level of 6.8% (51 mmol/mol). Three days after he received the COVID-19 vaccination, his glucose level started to fluctuate in the range of 46 to 378 mg/dL with 3.5 times higher total daily insulin requirement. The patient developed white-pale cold hands, weight gain, fatigue, and liver dysfunction. Computed tomography of the abdomen revealed mild hepatomegaly, and laboratory workup was negative for hepatitis. One month later, his glucose level became better controlled, and his liver function improved. Continuous glucose monitoring revealed that his glucose profile returned to baseline after 6 weeks.

Discussion

COVID-19 vaccination resulted in significant glucose variation and fluctuations in this patient. It could be explained by the vaccine-induced immune response causing an increase in insulin resistance, such as in adipose tissue and muscle cells. Immune stimulation could have also caused the abnormal liver function and explain his new onset Raynaud phenomenon.

Conclusion

We described, for the first time, the long-term continuous glucose monitoring glucose profile with a hybrid closed-loop system in type 1 DM after COVID-19 vaccination. Clinicians need to keep alert to glycemic excursion and side effects after immunization in type 1 DM.

背景/目的新冠肺炎疫苗接种与血糖控制变化之间的关系仍有争议。我们报告了一例1型糖尿病（DM）患者，该患者先前在混合闭环胰岛素泵上血糖控制良好，但在接种疫苗后出现了显著的血糖变化、新发雷诺现象和肝功能障碍。病例报告一名33岁男性，自5岁起患有1型糖尿病，使用胰岛素泵治疗17年。他有一个合理的控制血糖水平，血红蛋白A1c水平为6.8%（51毫摩尔/摩尔）。在他接种新冠肺炎疫苗三天后，他的血糖水平开始在46至378 mg/dL的范围内波动，每日总胰岛素需求量高出3.5倍。患者出现双手苍白冰冷、体重增加、疲劳和肝功能障碍。腹部电脑断层扫描显示轻度肝肿大，实验室检查为肝炎阴性。一个月后，他的血糖水平得到了更好的控制，肝功能也有所改善。连续血糖监测显示，他的血糖状况在6周后恢复到基线。讨论接种新冠肺炎疫苗导致该患者血糖发生显著变化和波动。这可以解释为疫苗诱导的免疫反应导致胰岛素抵抗增加，如脂肪组织和肌肉细胞。免疫刺激也可能导致肝功能异常，并解释了他新出现的雷诺现象。结论我们首次描述了新冠肺炎疫苗接种后1型糖尿病患者的混合闭环系统长期连续血糖监测血糖图谱。临床医生需要警惕1型糖尿病免疫后血糖升高和副作用。

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引用次数: 1

Q3 Medicine

AACE Clinical Case Reports

Pub Date : 2023-07-01 DOI: 10.1016/j.aace.2023.04.001

Alexandra E. Grier MD, PhD , Janet B. McGill MD , Sandra M. Lord MD , Cate Speake PhD , Carla Greenbaum MD , Chester E. Chamberlain PhD , Michael S. German MD , Mark S. Anderson MD, PhD , Irl B. Hirsch MD

Background

Identifying cases of diabetes caused by single gene mutations between the more common type 1 diabetes (T1D) and type 2 diabetes (T2D) is a difficult but important task. We report the diagnosis of ATP-binding cassette transporter sub-family C member 8 (ABCC8)-related monogenic diabetes in a 35-year-old woman with a protective human leukocyte antigen (HLA) allele who was originally diagnosed with T1D at 18 years of age.

Case Report

Patient A presented with polyuria, polydipsia, and hypertension at the age of 18 years and was found to have a blood glucose > 500 mg/dL (70-199 mg/dL) and an HbA1C (hemoglobin A1C) >14% (4%-5.6%). She had an unmeasurable C-peptide but no urine ketones. She was diagnosed with T1D and started on insulin therapy. Antibody testing was negative. She required low doses of insulin and later had persistence of low but detectable C-peptide. At the age of 35 years, she was found to have a protective HLA allele, and genetic testing revealed a pathogenic mutation in the ABCC8 gene. The patient was then successfully transitioned to sulfonylurea therapy.

Discussion

Monogenic diabetes diagnosed in adolescence typically presents with mild to moderate hyperglycemia, positive family history and, in some cases, other organ findings or dysfunction. The patient in this report presented with very high blood glucose, prompting the diagnosis of T1D. When she was found to have a protective HLA allele, further investigation revealed the mutation in the sulfonylurea receptor gene, ABCC8.

Conclusion

Patients suspected of having T1D but with atypical clinical characteristics such as negative autoantibodies, low insulin requirements, and persistence of C-peptide should undergo genetic testing for monogenic diabetes.

背景识别由更常见的1型糖尿病（T1D）和2型糖尿病（T2D）之间的单基因突变引起的糖尿病病例是一项困难但重要的任务。我们报告了一名具有保护性人类白细胞抗原（HLA）等位基因的35岁女性的ATP结合盒转运蛋白C亚家族成员8（ABCC8）相关单基因糖尿病的诊断，该女性最初在18岁时被诊断为T1D。病例报告患者A在18岁时出现多尿、多饮和高血压，发现血糖>；500mg/dL（70-199mg/dL）和HbA1C（血红蛋白A1C）>；14%（4%-5.6%）。她有一种无法测量的C肽，但没有尿酮。她被诊断为T1D，并开始接受胰岛素治疗。抗体检测呈阴性。她需要低剂量的胰岛素，后来出现了持续的低但可检测的C肽。35岁时，她被发现具有保护性HLA等位基因，基因检测显示ABCC8基因发生了致病性突变。患者随后成功转入磺酰脲类药物治疗。讨论青春期诊断的单基因糖尿病通常表现为轻度至中度高血糖、阳性家族史，在某些情况下，还有其他器官发现或功能障碍。本报告中的患者血糖非常高，提示诊断为T1D。当她被发现具有保护性HLA等位基因时，进一步的研究揭示了磺酰脲受体基因ABCC8的突变。结论怀疑患有T1D但具有非典型临床特征（如自身抗体阴性、胰岛素需求低和C肽持续存在）的患者应接受单基因糖尿病的基因检测。

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引用次数: 1