Journal of Medical Case Reports最新文献

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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
Journal of Medical Case Reports Pub Date : 2024-10-22 DOI: 10.1186/s13256-024-04849-w
Wei Hong, Lei Zhang, Zunshun Yu, Yanjun Wang, Youkun Qi
{"title":"Intestinal obstruction following antituberculosis therapy in a patient with pancreatic carcinoma and pulmonary tuberculosis: a case report.","authors":"Wei Hong, Lei Zhang, Zunshun Yu, Yanjun Wang, Youkun Qi","doi":"10.1186/s13256-024-04849-w","DOIUrl":"10.1186/s13256-024-04849-w","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11494838/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142467704","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
Primary axillary hydatid cyst: A case report. 原发性腋窝水瘤囊肿:病例报告
IF 0.9
Journal of Medical Case Reports Pub Date : 2024-10-21 DOI: 10.1186/s13256-024-04830-7
Jesintha Christina, Shamita Chatterjee, Pritin Bera, Uttara Chatterjee
{"title":"Primary axillary hydatid cyst: A case report.","authors":"Jesintha Christina, Shamita Chatterjee, Pritin Bera, Uttara Chatterjee","doi":"10.1186/s13256-024-04830-7","DOIUrl":"10.1186/s13256-024-04830-7","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11492742/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142467707","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
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
Journal of Medical Case Reports Pub Date : 2024-10-20 DOI: 10.1186/s13256-024-04823-6
Monty Khela, Charles Button, Noureen Asghar, Jalal Dufani, Akshat Sood, Joseph Thirumalareddy
{"title":"Gastrojejunostomy junction perforation resulting from Dobhoff tube insertion in a patient with a history of Roux-en-Y surgery: a case report.","authors":"Monty Khela, Charles Button, Noureen Asghar, Jalal Dufani, Akshat Sood, Joseph Thirumalareddy","doi":"10.1186/s13256-024-04823-6","DOIUrl":"10.1186/s13256-024-04823-6","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11491008/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142467701","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
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
Journal of Medical Case Reports Pub Date : 2024-10-19 DOI: 10.1186/s13256-024-04831-6
Yap SuHao, Rajeev Vedantham
{"title":"Pulmonary embolism in a hemophiliac patient with factor V and VIII deficiency: a case report.","authors":"Yap SuHao, Rajeev Vedantham","doi":"10.1186/s13256-024-04831-6","DOIUrl":"https://doi.org/10.1186/s13256-024-04831-6","url":null,"abstract":"<p><strong>Background: </strong>This is an interesting and unexpected thromboembolic event in a hemophiliac patient.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Conclusion: </strong>In conclusion, a thromboembolic event is not an improbable event in a hemophiliac patient and should be considered despite a low Well's score.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11490163/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142467709","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
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
Journal of Medical Case Reports Pub Date : 2024-10-18 DOI: 10.1186/s13256-024-04832-5
Dongwhane Lee, Kyung Hwa Jung, Hyo-Ju Son, In Tae Moon
{"title":"Pseudomonas monteilii bacteremia and sepsis following insertable cardiac monitor implantation: a case report.","authors":"Dongwhane Lee, Kyung Hwa Jung, Hyo-Ju Son, In Tae Moon","doi":"10.1186/s13256-024-04832-5","DOIUrl":"https://doi.org/10.1186/s13256-024-04832-5","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Conclusions: </strong>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.</p><p><strong>Learning objectives: </strong>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.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11488085/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142467708","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
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
Journal of Medical Case Reports 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
{"title":"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.","authors":"Ebtesam Al-Enezi, Mohannad Alghamdi, Khaled Al-Enezi, Mohammed AlBalwi, William Davies, Wafaa Eyaid","doi":"10.1186/s13256-024-04838-z","DOIUrl":"https://doi.org/10.1186/s13256-024-04838-z","url":null,"abstract":"","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11487690/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142467699","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
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
Journal of Medical Case Reports 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
{"title":"Uncommon triple vessel spontaneous coronary artery dissection in the setting of polyarteritis nodosa: a case report.","authors":"Nouhaila Lahmouch, Raid Faraj, Soukaina Cherkaoui, Omar Nafii, Mohamed Sarsari, Oualid Kerrouani, Idriss Allalat, Jamila Zarzur, Mohamed Cherti","doi":"10.1186/s13256-024-04841-4","DOIUrl":"10.1186/s13256-024-04841-4","url":null,"abstract":"<p><strong>Introduction and importance: </strong>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.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11484318/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142467714","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
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
Journal of Medical Case Reports 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
{"title":"Leukocytosis and thrombocytosis after splenectomy: expected finding, infection, or something else: a case report.","authors":"Nicolas Gonzalez, Jeffry Nahmias, Lisa X Lee, Matthew Dolich, Michael Lekawa, Allen Kong, Areg Grigorian","doi":"10.1186/s13256-024-04744-4","DOIUrl":"10.1186/s13256-024-04744-4","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Case presentation: </strong>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 × 10<sup>9</sup>/L, platelet count was 691 × 10<sup>9</sup>/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 × 10<sup>9</sup>/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.</p><p><strong>Conclusions: </strong>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 × 10<sup>9</sup>/L) and thrombocytosis (> 2000 × 10<sup>9</sup>/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.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11484462/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142467705","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
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
Journal of Medical Case Reports Pub Date : 2024-10-17 DOI: 10.1186/s13256-024-04815-6
Shasha Li, Yanjuan Zhang, Jiandong Zha, Wenqi Chen
{"title":"Successful administration of cetuximab using dose escalation method: a case report.","authors":"Shasha Li, Yanjuan Zhang, Jiandong Zha, Wenqi Chen","doi":"10.1186/s13256-024-04815-6","DOIUrl":"10.1186/s13256-024-04815-6","url":null,"abstract":"<p><strong>Introduction: </strong>Cetuximab, used to treat head and neck squamous cell carcinoma and metastatic colorectal cancer, can cause severe infusion reactions.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Conclusion: </strong>This approach demonstrates a viable alternative for patients with hypersensitivity to cetuximab, warranting further research for personalized treatment optimization.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11484190/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142467711","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
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
Journal of Medical Case Reports Pub Date : 2024-10-17 DOI: 10.1186/s13256-024-04850-3
Jean Claude Katte, Mesmin Y Dehayem, Kevin Colclough, Eugene Sobngwi
{"title":"Treatment switch from multiple daily insulin injections to sulphonylureas in an African young adult diagnosed with HNF1A MODY: a case report.","authors":"Jean Claude Katte, Mesmin Y Dehayem, Kevin Colclough, Eugene Sobngwi","doi":"10.1186/s13256-024-04850-3","DOIUrl":"https://doi.org/10.1186/s13256-024-04850-3","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Case presentation: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11488176/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142485666","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
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