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Intestinal obstruction following antituberculosis therapy in a patient with pancreatic carcinoma and pulmonary tuberculosis: a case report. 一名胰腺癌合并肺结核患者在接受抗结核治疗后出现肠梗阻:病例报告。
IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-10-22 DOI: 10.1186/s13256-024-04849-w
Wei Hong, Lei Zhang, Zunshun Yu, Yanjun Wang, Youkun Qi

Introduction: Intestinal obstruction is a common complication in patients with advanced malignancies, often attributed to the disease itself or as a side effect of opioid analgesics used for pain management. However, the occurrence of intestinal obstruction following antituberculosis therapy is rare.

Case presentation: We report a unique case of a 58-year-old Asian male diagnosed with stage IV pancreatic carcinoma and pulmonary tuberculosis. The patient was initiated on a regimen of ethambutol hydrochloride, pyrazinamide, rifampicin, and isoniazid tablets (II) for tuberculosis, alongside morphine for the management of severe cancer-related pain. Subsequently, he developed symptoms indicative of intestinal obstruction. Despite discontinuation of morphine, the patient's symptoms persisted until he autonomously ceased all medications, leading to a rapid improvement in his condition. This unexpected resolution highlighted the antituberculosis drugs as the probable cause of his intestinal obstruction.

Conclusions: This case underscores the importance of considering antituberculosis drugs as a potential cause of intestinal obstruction, especially in patients who do not respond to conventional management strategies for drug-induced gastrointestinal side effects. It also emphasizes the need for heightened vigilance and monitoring when prescribing these medications to patients with advanced malignancies, to promptly identify and address rare but significant side effects.

简介:肠梗阻是晚期恶性肿瘤患者常见的并发症:肠梗阻是晚期恶性肿瘤患者常见的并发症,通常是由于疾病本身或用于止痛的阿片类镇痛药的副作用所致。然而,抗结核治疗后发生肠梗阻的情况却很少见:我们报告了一例独特的病例,患者是一名 58 岁的亚洲男性,被诊断为胰腺癌 IV 期和肺结核。患者开始使用盐酸乙胺丁醇、吡嗪酰胺、利福平和异烟肼片剂(II)治疗肺结核,同时使用吗啡治疗严重的癌症相关疼痛。随后,他出现了肠梗阻的症状。尽管停用了吗啡,但患者的症状依然存在,直到他自主停用所有药物,病情才迅速好转。这一出乎意料的缓解突出表明,抗结核药物可能是导致其肠梗阻的原因:本病例强调了将抗结核药物视为肠梗阻潜在病因的重要性,尤其是对于那些对药物引起的胃肠道副作用的常规治疗策略无反应的患者。该病例还强调,在为晚期恶性肿瘤患者开具此类药物处方时,必须提高警惕并加强监测,以便及时发现并解决罕见但严重的副作用。
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引用次数: 0
Primary axillary hydatid cyst: A case report. 原发性腋窝水瘤囊肿:病例报告
IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-10-21 DOI: 10.1186/s13256-024-04830-7
Jesintha Christina, Shamita Chatterjee, Pritin Bera, Uttara Chatterjee

Background: Hydatid disease, also known as echinococcosis, is an endemic parasitic infection, most commonly caused by Echinococcus granulosus. It may affect any organ resulting in the formation of hydatid cysts, but most frequently involves liver and lungs. Hydatid cyst arising primarily from axilla is an extremely rare manifestation of this condition, with only a few cases reported in medical literature.

Case presentation: Here we present the case of a 32-year-old Indian male farmer, who presented with a painless, slow-growing mass in the left axillary region of 8 months duration. Preoperative imaging led us to the diagnosis of primary axillary hydatid cyst, with no other associated cysts or masses anywhere else in the body. Following antihelmintic therapy, the cyst was surgically excised without rupture. The diagnosis was further confirmed by macroscopic and histopathological examination.

Conclusion: This case report highlights the importance of considering hydatid cyst in the differential diagnosis of palpable masses in the axillary region, especially in regions where the disease is endemic. Early recognition and accurate diagnosis are crucial for appropriate management and optimal patient outcomes.

背景:包虫病又称棘球蚴病,是一种地方性寄生虫感染,最常见的病原体是颗粒棘球蚴。该病可影响任何器官,导致形成包虫囊肿,但最常累及肝脏和肺部。主要发生于腋窝的包虫囊肿是这种疾病的一种极为罕见的表现形式,医学文献中仅有几例报道:本病例是一名 32 岁的印度男性农民,因左侧腋窝出现无痛、生长缓慢的肿块而就诊,病程长达 8 个月。术前影像学诊断为原发性腋窝包虫囊肿,身体其他部位没有其他相关囊肿或肿块。经过抗蠕虫治疗后,囊肿被手术切除,没有破裂。宏观和组织病理学检查进一步确诊:本病例报告强调了在鉴别诊断腋窝部位可触及的肿块时考虑包虫囊肿的重要性,尤其是在包虫病流行的地区。早期识别和准确诊断对于适当的治疗和患者的最佳预后至关重要。
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引用次数: 0
Gastrojejunostomy junction perforation resulting from Dobhoff tube insertion in a patient with a history of Roux-en-Y surgery: a case report. 曾接受过 Roux-en-Y 手术的患者因插入 Dobhoff 管而导致胃空肠吻合口穿孔:病例报告。
IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-10-20 DOI: 10.1186/s13256-024-04823-6
Monty Khela, Charles Button, Noureen Asghar, Jalal Dufani, Akshat Sood, Joseph Thirumalareddy

Background: Gastrojejunostomy junction perforation is a rare yet critical complication associated with enteral tube placement, presenting unique challenges in patients with a history of Roux-en-Y gastric bypass surgery.

Case presentation: A 63-year-old white female with a complex medical history, including heart failure, atrial fibrillation, stage 4 chronic kidney disease, and prior Roux-en-Y gastric bypass surgery in 2015, experienced a significant decline in her health. She was discharged to a skilled nursing facility after a fall but deteriorated rapidly in the 2 weeks before admission. She presented with symptoms of failure to thrive, abdominal/back pain, inability to eat or drink, constipation, and stool incontinence. Lab tests showed anemia, electrolyte imbalances, and acute kidney injury. Imaging confirmed Roux-en-Y gastric bypass anatomy and a small hiatal hernia. Despite treatment attempts, her condition worsened. Nutrition discussions led to a temporary Dobhoff tube placement, considering her Roux-en-Y gastric bypass history, with plans for a gastrostomy tube. However, Dobhoff tube placement posed challenges, and imaging later revealed perforation near the gastrojejunostomy junction. After consulting with the family, the decision was made to transition the patient to comfort care due to her overall condition. Yearly education of staff about Roux-en-Y gastric bypass anatomy and updated Dobhoff placement protocol was implemented with physician oversight. Further imaging protocol in a patient who had had a Roux-en-Y gastric bypass was updated to include fluoroscopic guidance when endoscopic placement was unavailable.

Conclusions: This case highlights the intricacies of managing patients with Roux-en-Y gastric bypass history and underscores the need for meticulous planning and consideration of anatomical variations when performing procedures involving the gastrointestinal tract and the importance of involving multiple healthcare disciplines in complex decision-making and preventive measures to enhance patient safety in similar cases.

背景:胃空肠吻合口穿孔是与肠管置入相关的一种罕见但严重的并发症,给有鲁氏胃旁路手术史的患者带来了独特的挑战:一位 63 岁的白人女性病史复杂,包括心力衰竭、心房颤动、慢性肾脏病 4 期,曾在 2015 年接受过 Roux-en-Y 胃旁路手术。她在一次跌倒后被送往一家专业护理机构,但在入院前两周病情迅速恶化。她出现了无法茁壮成长、腹部/背部疼痛、无法进食或饮水、便秘和大便失禁等症状。实验室检查显示她患有贫血、电解质失衡和急性肾损伤。影像学检查证实了 Roux-en-Y 胃旁路解剖结构和小食道裂孔疝。尽管尝试了各种治疗方法,她的病情还是恶化了。考虑到她曾有过 Roux-en-Y 胃旁路手术史,营养讨论后决定为她暂时置入 Dobhoff 管,并计划置入胃造瘘管。然而,Dobhoff 管的置入带来了挑战,后来的影像学检查发现胃空肠吻合口附近有穿孔。与家属协商后,考虑到患者的整体情况,决定将其转为舒适护理。在医生的监督下,对员工进行了有关 Roux-en-Y 胃旁路解剖学的年度教育,并更新了 Dobhoff 置管方案。对曾接受过 Roux-en-Y 胃旁路术的患者的进一步成像方案进行了更新,以便在无法进行内窥镜置管的情况下进行透视引导:本病例凸显了管理有 Roux-en-Y 胃分流术病史的患者的复杂性,强调了在实施涉及胃肠道的手术时需要精心策划和考虑解剖结构的变化,以及让多个医疗学科参与复杂决策和预防措施的重要性,以提高类似病例中的患者安全。
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引用次数: 0
Pulmonary embolism in a hemophiliac patient with factor V and VIII deficiency: a case report. 一名因子 V 和 VIII 缺乏症血友病患者的肺栓塞:病例报告。
IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-10-19 DOI: 10.1186/s13256-024-04831-6
Yap SuHao, Rajeev Vedantham

Background: This is an interesting and unexpected thromboembolic event in a hemophiliac patient.

Case presentation: This is a case of a 33-year-old primigravidarum of Indian Asian origin with Factor V and Factor VIII deficiency who developed a case of pulmonary embolism during the course of her pregnancy after presenting to the emergency department in Leicester, United Kingdom, with hemoptysis, tachycardia, and tachypnea. Patient was subsequently diagnosed with pulmonary embolism after a computed tomography pulmonary angiogram and was treated with therapeutic daltaparin, a low-molecular-weight heparin.

Conclusion: In conclusion, a thromboembolic event is not an improbable event in a hemophiliac patient and should be considered despite a low Well's score.

背景:这是一名血友病患者发生的有趣的意外血栓栓塞事件:这是血友病患者发生的一起有趣而意外的血栓栓塞事件:这是一例 33 岁印度裔亚洲初产妇的病例,她患有因子 V 和因子 VIII 缺乏症,在怀孕期间因咯血、心动过速和呼吸急促前往英国莱斯特市的急诊科就诊,随后出现肺栓塞。患者随后在接受计算机断层扫描肺血管造影后被诊断为肺栓塞,并接受了低分子量肝素达肝素治疗:总之,血友病患者发生血栓栓塞并非不可能,尽管韦氏评分较低,仍应考虑血栓栓塞。
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引用次数: 0
Pseudomonas monteilii bacteremia and sepsis following insertable cardiac monitor implantation: a case report. 植入可插入式心脏监护仪后的单端假单胞菌菌血症和败血症:病例报告。
IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-10-18 DOI: 10.1186/s13256-024-04832-5
Dongwhane Lee, Kyung Hwa Jung, Hyo-Ju Son, In Tae Moon

Background: Insertable cardiac monitor implantation is a simple and safe procedure commonly performed in patients with embolic stroke with undetermined source. Routine periprocedural antibiotic use is not recommended, because infection rate is very low, although some local infection or gram-positive bacteremia have been reported. We report a case of Pseudomonas monteilii sepsis immediately after insertable cardiac monitor implantation.

Case presentation: A 55-year-old Korean male with embolic stroke of undetermined source presented with gram-negative sepsis immediately after implantable cardiac monitor implantation as a first reported complication after the procedure. Pseudomonas monteilii was identified in the blood culture, and no other infection source was seen. He was treated with intravenous antibiotics without removing the device.

Conclusions: Prompt diagnosis and adequate management is required in such a patient with sepsis post-insertable cardiac monitor implantation procedure. It can be managed with adequate antibiotic treatment without device removal if there is no sign of inflammation at the insertion site. Further reports or studies should be investigated to reinforce this finding.

Learning objectives: The infection rate after insertable cardiac monitor insertion is extremely low; however, sepsis may occur without pocket infections. Physicians should be aware of signs of systemic infection, particularly when the procedure is performed outside the catheterization room. Sepsis after insertable cardiac monitor implantation can be managed with adequate antibiotic treatment without device removal if there is no sign of inflammation at the insertion site.

背景:植入式心脏监护仪是一种简单而安全的手术,通常用于来源不明的栓塞性脑卒中患者。虽然有局部感染或革兰氏阳性菌血症的报道,但由于感染率很低,因此不建议在手术前常规使用抗生素。我们报告了一例插入式心脏监护仪植入术后立即发生假单胞菌败血症的病例:一名 55 岁的韩国男性因不明原因的栓塞性中风在植入式心脏监护仪后立即出现革兰氏阴性败血症,这是植入式心脏监护仪术后首次报告的并发症。经血液培养确定为假单胞菌,未发现其他感染源。他接受了静脉抗生素治疗,但没有移除装置:结论:对于此类植入式心脏监护仪术后败血症患者,需要及时诊断并采取适当的治疗措施。如果植入部位没有炎症迹象,则可以通过适当的抗生素治疗来控制病情,而无需移除装置。应进一步调查报告或研究,以加强这一结论:插入式心电监护仪插入后的感染率极低;然而,败血症可能在没有口袋感染的情况下发生。医生应注意全身感染的迹象,尤其是在导管室外进行手术时。如果插入部位没有炎症迹象,可通过适当的抗生素治疗来控制插入式心电监护仪植入术后的败血症,而无需移除设备。
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引用次数: 0
Correction: Helsmoortel-Van der Aa syndrome in a 13-year-old girl with autistic spectrum disorder, dysmorphism, a right solitary kidney, and polycystic ovaries: a case report. 更正:一名患有自闭症谱系障碍、畸形、右侧单肾和多囊卵巢的 13 岁女孩的 Helsmoortel-Van der Aa 综合征:病例报告。
IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-10-17 DOI: 10.1186/s13256-024-04838-z
Ebtesam Al-Enezi, Mohannad Alghamdi, Khaled Al-Enezi, Mohammed AlBalwi, William Davies, Wafaa Eyaid
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引用次数: 0
Uncommon triple vessel spontaneous coronary artery dissection in the setting of polyarteritis nodosa: a case report. 结节性多动脉炎引起的罕见三血管自发性冠状动脉夹层:病例报告。
IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-10-17 DOI: 10.1186/s13256-024-04841-4
Nouhaila Lahmouch, Raid Faraj, Soukaina Cherkaoui, Omar Nafii, Mohamed Sarsari, Oualid Kerrouani, Idriss Allalat, Jamila Zarzur, Mohamed Cherti

Introduction and importance: Spontaneous coronary artery dissection is a rare cause of acute coronary syndromes not related to atherosclerosis. It involves the sudden tearing of the coronary artery wall, separating the inner intimal lining from the outer vessel wall, typically affecting a single coronary vessel. In 20% of cases, the cause of spontaneous coronary artery dissection is unknown. The other cases often occur in pregnant or postpartum women or in individuals with conditions such as connective tissue disorders or vasculitis.

Case presentation: Here, we describe a case of a 69-year-old African female presenting with non-ST-segment elevation myocardial infarction. Coronary angiography revealed an unusual triple-vessel spontaneous coronary artery dissection affecting peripheral segments, with further investigations suggesting polyarteritis nodosa.

Conclusion: While triple-vessel spontaneous coronary artery dissection and polyarteritis nodosa (PAN) are individually rare, their coexistence is exceptionally uncommon and presents diagnostic and therapeutic challenges. Clinicians should be alert to vasculitic causes in patients with spontaneous coronary artery dissection, especially with atypical clinical features.

导言和重要性:自发性冠状动脉夹层是急性冠状动脉综合征的一种罕见病因,与动脉粥样硬化无关。它是指冠状动脉壁突然撕裂,内膜与血管外壁分离,通常只影响一根冠状动脉。在 20% 的病例中,自发性冠状动脉夹层的原因不明。其他病例通常发生在孕妇、产后妇女或患有结缔组织病或脉管炎等疾病的人身上:在此,我们描述了一例 69 岁非洲女性非 ST 段抬高型心肌梗死病例。冠状动脉造影显示,患者有不寻常的三血管自发性冠状动脉夹层,并影响到外周节段,进一步检查显示患者患有结节性多动脉炎:结论:虽然三血管自发性冠状动脉夹层和结节性多动脉炎(PAN)各自罕见,但它们同时存在的情况却极为罕见,给诊断和治疗带来了挑战。临床医生应警惕自发性冠状动脉夹层患者的血管炎病因,尤其是不典型的临床特征。
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引用次数: 0
Leukocytosis and thrombocytosis after splenectomy: expected finding, infection, or something else: a case report. 脾切除术后白细胞和血小板增多:预期发现、感染或其他原因:病例报告。
IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-10-17 DOI: 10.1186/s13256-024-04744-4
Nicolas Gonzalez, Jeffry Nahmias, Lisa X Lee, Matthew Dolich, Michael Lekawa, Allen Kong, Areg Grigorian

Background: Leukocytosis and thrombocytosis often follow splenectomy in blunt trauma patients, complicating the postoperative identification of infection. While the platelet count to white blood cell ratio provides diagnostic assistance to discern between expected laboratory alterations and infection, diagnoses such as leukemia are often overlooked.

Case presentation: A 53-year-old Hispanic male presented with abdominal pain, nausea, tachycardia, and focal peritonitis 4 days after being assaulted and struck multiple times in the abdomen. Initial white blood cell count was 38.4 × 109/L, platelet count was 691 × 109/L, and lipase was 55 U/L. Computed tomography abdomen/pelvis demonstrated a hematoma encasing the distal pancreas and abutting the stomach and colon. Emergent laparotomy revealed a nearly transected pancreas and devascularized colon, necessitating a distal pancreatectomy, splenectomy, and colonic resection with primary anastomosis. Postoperatively, he had a persistently elevated leukocytosis, thrombocytosis, segmented neutrophils, eosinophilia, and basophilia (peak at 70, 2293, 64, 1.1, and 1.2 × 109/L, respectively). Despite sepsis workup, including repeat computed tomography, no source was identified. Hematology/oncology was consulted for concern for hematologic etiology, with genetic testing and bone marrow biopsy performed. The diagnosis of breakpoint cluster-Abelson gene-positive chronic myeloid leukemia was made based on genetic tests, including polymerase chain reaction and fluorescence in situ hybridization analysis, which confirmed the presence of the Philadelphia chromosome. Bone marrow biopsy suggested a chronic phase. The patient was treated with hydroxyurea and transitioned to imatinib.

Conclusions: Thrombocytosis following splenectomy is a common complication and a plate count to white blood cell count ratio  < 20 indicates infectious etiology. A significantly elevated white blood cell count (> 50 × 109/L) and thrombocytosis (> 2000 × 109/L) may suggest something more ominous, including chronic myeloid leukemia , particularly when elevated granulocyte counts are present. Chronic myeloid leukemia workup includes peripheral smear, bone marrow aspiration, and determination of Philadelphia chromosome. Post-splenectomy vaccines are still indicated within 14 days; however, the timing of immunization with cancer treatment must be considered. Tyrosine kinase inhibitors are the first-line therapy and benefits of pretreatment with hydroxyurea for cytoreduction remain under investigation. Additionally, tyrosine kinase inhibitors have been associated with gastrointestinal perforation and impaired wound healing, necessitating heightened attention in patients with a new bowel anastomosis.

背景:钝性外伤患者脾脏切除术后往往会出现白细胞和血小板增多,从而使术后感染的鉴别变得复杂。虽然血小板计数与白细胞比值有助于诊断鉴别预期的实验室改变和感染,但白血病等诊断往往被忽视:病例介绍:一名 53 岁的西班牙裔男性在腹部遭到袭击和多次击打 4 天后出现腹痛、恶心、心动过速和局灶性腹膜炎。初始白细胞计数为 38.4 × 109/L,血小板计数为 691 × 109/L,脂肪酶为 55 U/L。腹部/盆腔计算机断层扫描显示血肿包裹着胰腺远端,并与胃和结肠相邻。紧急开腹手术显示胰腺几乎被横切,结肠血管断裂,因此必须进行胰腺远端切除术、脾切除术和结肠切除术,并进行主吻合术。术后,他的白细胞、血小板、中性粒细胞、嗜酸性粒细胞和嗜碱性粒细胞持续升高(峰值分别为 70、2293、64、1.1 和 1.2 × 109/L)。尽管进行了败血症检查,包括重复计算机断层扫描,但仍未找到病源。因担心是血液学病因,血液科/肿瘤科进行了会诊,并进行了基因检测和骨髓活检。根据基因检测,包括聚合酶链反应和荧光原位杂交分析,确诊为费城染色体阳性的慢性髓性白血病。骨髓活检显示患者处于慢性期。患者接受了羟基脲治疗,并转为伊马替尼治疗:脾切除术后出现血小板增多是一种常见的并发症,血小板计数与白细胞计数之比为 50 × 109/L)和血小板增多(> 2000 × 109/L)可能暗示着更不祥的预兆,包括慢性髓性白血病,尤其是粒细胞计数升高时。慢性髓性白血病的检查包括外周涂片、骨髓穿刺和费城染色体测定。脾切除术后疫苗仍应在 14 天内接种;但必须考虑癌症治疗的免疫时机。酪氨酸激酶抑制剂是一线疗法,羟基脲预处理对细胞减少的益处仍在研究中。此外,酪氨酸激酶抑制剂还与胃肠道穿孔和伤口愈合受损有关,因此需要高度关注有新肠道吻合术的患者。
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引用次数: 0
Successful administration of cetuximab using dose escalation method: a case report. 使用剂量递增法成功施用西妥昔单抗:病例报告。
IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-10-17 DOI: 10.1186/s13256-024-04815-6
Shasha Li, Yanjuan Zhang, Jiandong Zha, Wenqi Chen

Introduction: Cetuximab, used to treat head and neck squamous cell carcinoma and metastatic colorectal cancer, can cause severe infusion reactions.

Case presentation: We report an 87-year-old East Asian woman with stage IV ileocecal signet ring cell carcinoma who experienced severe allergic reactions to cetuximab despite pre-treatment. A dose escalation method, involving weekly incremental doses with comprehensive pre-treatment and close monitoring, was employed, successfully reducing allergic reactions and allowing safe administration.

Conclusion: This approach demonstrates a viable alternative for patients with hypersensitivity to cetuximab, warranting further research for personalized treatment optimization.

简介:西妥昔单抗用于治疗头颈部鳞癌和转移性结直肠癌,可引起严重的输液反应:西妥昔单抗用于治疗头颈部鳞状细胞癌和转移性结直肠癌,可引起严重的输液反应:我们报告了一名 87 岁的东亚妇女,她患有回盲部标志环细胞癌 IV 期,尽管预先接受了西妥昔单抗治疗,但仍出现了严重的过敏反应。我们采用了剂量递增法,即每周递增剂量,同时进行全面预处理和密切监测,成功减少了过敏反应,实现了安全用药:这种方法为对西妥昔单抗过敏的患者提供了一种可行的选择,值得进一步研究,以优化个性化治疗。
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引用次数: 0
Treatment switch from multiple daily insulin injections to sulphonylureas in an African young adult diagnosed with HNF1A MODY: a case report. 一名被诊断为 HNF1A MODY 的非洲年轻人从每日多次胰岛素注射转为磺脲类药物治疗:病例报告。
IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-10-17 DOI: 10.1186/s13256-024-04850-3
Jean Claude Katte, Mesmin Y Dehayem, Kevin Colclough, Eugene Sobngwi

Background: Maturity onset diabetes of the young is one of the commonest causes of monogenic diabetes and can easily be mistaken for type 1 diabetes. A diagnosis of maturity onset diabetes of the young can have direct implications for genetic counseling, family screening, and precision diabetes treatment. However, the cost of genetic testing and identifying individuals to test are the main challenges for diagnosis and management in sub-Saharan Africa. We report the very first documented case of HNF1A maturity onset diabetes of the young in the sub-Saharan African region.

Case presentation: A 20-year-old female Black African young adult diagnosed with type 1 diabetes aged 14 presented for routine out-patient diabetes consultation. She was on multiple daily insulin injections; total combined dose 0.79 IU/kg/day with an HbA1c of 7.7%. The rest of her laboratory examinations were normal. On extended laboratory analysis, she had good residual insulin secretion with post-meal plasma C-peptide levels at 1150 pmol/L. She tested negative for glutamic acid decarboxylase (GAD65), islet antigen-2 (IA-2), and zinc transporter 8 (ZnT8) islet autoantibodies. Targeted next-generation sequencing (t-NGS) for monogenic diabetes was performed using DNA extracted from a buccal sample. She was diagnosed with HNF1A maturity onset diabetes of the young, with the c.607C > T; p.(Arg203Cys) pathogenic variant, which has never been reported in sub-Saharan Africa. Her clinical practitioners provided genetic and therapeutic counseling. Within 10 months following the diagnosis of maturity onset diabetes of the young, she was successfully switched from multiple daily insulin injections to oral antidiabetic tablets (sulphonylurea) while maintaining stable glycemic control (HBA1c of 7.0%) and reducing hypoglycemia. She expressed a huge relief from the daily finger pricks for blood glucose monitoring.

Conclusion: This case reveals that HNF1A maturity onset diabetes of the young (and probably other causes of monogenic diabetes) can present in sub-Saharan Africa. A diagnosis of maturity onset diabetes of the young can have significant life-changing therapeutic implications.

背景:青年期成熟型糖尿病是单基因糖尿病最常见的病因之一,很容易被误诊为 1 型糖尿病。幼年成熟型糖尿病的诊断会对遗传咨询、家庭筛查和糖尿病精准治疗产生直接影响。然而,在撒哈拉以南非洲地区,基因检测的成本和确定检测个体是诊断和管理的主要挑战。我们报告了撒哈拉以南非洲地区第一例有记录的 HNF1A 成熟型青年糖尿病病例:一名 20 岁的非洲黑人女性青年在 14 岁时被诊断为 1 型糖尿病,前来进行糖尿病常规门诊咨询。她每天多次注射胰岛素,总剂量为 0.79 IU/kg/天,HbA1c 为 7.7%。她的其他实验室检查结果均正常。在扩展实验室分析中,她的胰岛素剩余分泌良好,餐后血浆 C 肽水平为 1150 pmol/L。她的谷氨酸脱羧酶(GAD65)、胰岛抗原-2(IA-2)和锌转运体8(ZnT8)胰岛自身抗体检测结果均为阴性。利用从口腔样本中提取的 DNA 进行了单基因糖尿病的靶向新一代测序(t-NGS)。她被诊断为 HNF1A 成熟型青年糖尿病,致病变体为 c.607C > T; p.(Arg203Cys),该变体从未在撒哈拉以南非洲地区报道过。她的临床医生为她提供了遗传和治疗咨询。在确诊为成熟型青年糖尿病后的 10 个月内,她成功地从每天多次注射胰岛素转为口服抗糖尿病药片(磺脲类药物),同时保持了稳定的血糖控制(HBA1c 为 7.0%)并减少了低血糖。她表示,每天扎手指监测血糖的工作大大减轻了她的负担:本病例揭示了 HNF1A 成熟型青年糖尿病(也可能是其他原因导致的单基因糖尿病)可能出现在撒哈拉以南非洲地区。幼年成熟型糖尿病的诊断可能会对治疗产生重大影响。
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引用次数: 0
期刊
Journal of Medical Case Reports
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