KEIO JOURNAL OF MEDICINE最新文献

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Tuberous Sclerosis Complex. 结节性硬化症。
IF 1.1
KEIO JOURNAL OF MEDICINE Pub Date : 2025-03-25 Epub Date: 2023-08-02 DOI: 10.2302/kjm.2023-0011-IR
Mari Wataya-Kaneda
{"title":"Tuberous Sclerosis Complex.","authors":"Mari Wataya-Kaneda","doi":"10.2302/kjm.2023-0011-IR","DOIUrl":"10.2302/kjm.2023-0011-IR","url":null,"abstract":"<p><p>Tuberous sclerosis complex (TSC) is an autosomal dominant inherited disease characterized by systemic hamartomas, neuropsychiatric symptoms known as TAND (TSC-associated neuropsychiatric disorders), and vitiligo. These symptoms are attributed to the constant activation of mechanistic target of rapamycin complex 1 (mTORC1) caused by genetic mutations in the causative genes TSC1 or TSC2. The elucidation of the pathogenesis of this disease and advances in diagnostic technologies have led to dramatic changes in the diagnosis and treatment of TSC. Diagnostic criteria have been created at a global level, and mTORC1 inhibitors have emerged as therapeutic agents for this disease. Previously, the treatment strategy was limited to symptomatic treatments such as surgery. Inhibitors of mTORC1 are effective against all symptoms of TSC, but they also have systemic side effects. Therefore, the need for a cross-disciplinary, collaborative medical care system has increased, resulting in the establishment of a practice structure known as the \"TSC Board.\" Furthermore, to reduce the side effects of systemic administration of mTORC1 inhibitors, a topical formulation of mTORC1 inhibitor was developed in Japan for the treatment of skin lesions caused by TSC. This report summarizes the pathogenesis and current status of TSC and the contribution of the Neurocutaneous Syndrome Policy Research Group to the policies of the Ministry of Health, Labor, and Welfare with respect to this rare, intractable disease.</p>","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":"42-51"},"PeriodicalIF":1.1,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9923473","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pachyonychia Congenita: Clinical Features and Future Treatments. 先天性厚甲沟炎:临床特点和未来治疗。
IF 1.1
KEIO JOURNAL OF MEDICINE Pub Date : 2025-03-25 Epub Date: 2023-09-28 DOI: 10.2302/kjm.2023-0012-IR
Rebecca L McCarthy, Marianne de Brito, Edel O'Toole
{"title":"Pachyonychia Congenita: Clinical Features and Future Treatments.","authors":"Rebecca L McCarthy, Marianne de Brito, Edel O'Toole","doi":"10.2302/kjm.2023-0012-IR","DOIUrl":"10.2302/kjm.2023-0012-IR","url":null,"abstract":"<p><p>Pachyonychia congenita (PC) is a rare, autosomal dominant inherited disorder of keratinization that is characterized by a triad of focal palmoplantar keratoderma, plantar pain, and hypertrophic nail dystrophy. It can be debilitating, causing significantly impaired mobility. PC is diagnosed clinically alongside identification of a heterozygous pathogenic mutation in one of five keratin genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. Each keratin gene mutation is associated with a distinct clinical phenotype, with variable age of onset and additional features, which has allowed classification by genotype. Additional features include pilosebaceous cysts, follicular hyperkeratosis, natal teeth, oral leukokeratosis, hidradenitis suppurativa, itching, and neurovascular structures. Although classed as rare, the prevalence of PC is likely to be underestimated. There is no cure or specific treatment for PC at present. Current treatments are limited to conservative measures to reduce plantar friction and trauma, mechanical debridement, topical treatments, and treatments for associated features or complications, most commonly infection. However, through active research in collaboration with PC Project, a patient-advocacy group, and the International PC Research Registry, a global registry of PC patients, there are now many new potential therapeutic options on the horizon. This review summarizes the clinical features associated with PC and highlights the current and future treatment of its manifestations.</p>","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":"52-60"},"PeriodicalIF":1.1,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41166809","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Recent Advances in Clinical Research on Rare Intractable Hereditary Skin Diseases in Japan. 日本罕见难治性遗传性皮肤病临床研究进展
IF 1.1
KEIO JOURNAL OF MEDICINE Pub Date : 2025-03-25 Epub Date: 2023-06-29 DOI: 10.2302/kjm.2023-0008-IR
Masashi Akiyama, Takuya Takeichi, Shigaku Ikeda, Akira Ishiko, Michiko Kurosawa, Hiroyuki Murota, Yutaka Shimomura, Tamio Suzuki, Katsuto Tamai, Akio Tanaka, Tadashi Terui, Masayuki Amagai
{"title":"Recent Advances in Clinical Research on Rare Intractable Hereditary Skin Diseases in Japan.","authors":"Masashi Akiyama, Takuya Takeichi, Shigaku Ikeda, Akira Ishiko, Michiko Kurosawa, Hiroyuki Murota, Yutaka Shimomura, Tamio Suzuki, Katsuto Tamai, Akio Tanaka, Tadashi Terui, Masayuki Amagai","doi":"10.2302/kjm.2023-0008-IR","DOIUrl":"10.2302/kjm.2023-0008-IR","url":null,"abstract":"<p><p>Our Research Group for Rare and Intractable Skin Diseases operates within the Project for Research on Intractable Diseases of the Ministry of Health, Labour, and Welfare of Japan and is conducting research on eight rare intractable skin diseases. Five of these are monogenic disorders (epidermolysis bullosa, congenital ichthyoses, oculocutaneous albinism, pseudoxanthoma elasticum, and hereditary angioedema), and for a sixth [generalized pustular psoriasis (GPP)], genetic predisposing factors are important. This review introduces our activities for raising public awareness of these six intractable hereditary skin diseases and summarizes our recent achievements in clarifying the situation of medical treatments for these diseases in Japan. We note our current progress in elucidating the pathogeneses of these diseases and in developing new treatment methods, and we discuss our progress in establishing clinical practice guidelines. A nationwide survey on epidermolysis bullosa and a clinical survey on congenital ichthyoses are progressing. The Angioedema Activity Score and the Angioedema Quality-of-Life Questionnaire, the latter of which is a quality-of-life evaluation tool, have been established for hereditary angioedema. Registries of patients with oculocutaneous albinism and pseudoxanthoma elasticum have been created, and the registry for the latter has achieved its target of 170 cases. For GPP, the results of our survey on clinical practice were published in 2021. Information regarding all six of these hereditary skin diseases has been disseminated to academic societies, medical professionals, patients, and the general public.</p>","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":"11-20"},"PeriodicalIF":1.1,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10051774","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Current Situation and Future Directions of Risk-reducing Salpingo-oophorectomy. 输卵管卵巢切除术的现状及未来发展方向。
IF 1.1
KEIO JOURNAL OF MEDICINE Pub Date : 2025-03-22 DOI: 10.2302/kjm.2024-0024-RE
Kenta Masuda, Yusuke Kobayashi, Tomoko Seki, Tomoko Yoshihama, Kohei Nakamura, Yumiko Goto, Mamiko Yamada, Aiko Nagayama, Sayaka Uchida, Ikumi Ono, Kumiko Misu, Megumi Yokota, Wataru Yamagami
{"title":"Current Situation and Future Directions of Risk-reducing Salpingo-oophorectomy.","authors":"Kenta Masuda, Yusuke Kobayashi, Tomoko Seki, Tomoko Yoshihama, Kohei Nakamura, Yumiko Goto, Mamiko Yamada, Aiko Nagayama, Sayaka Uchida, Ikumi Ono, Kumiko Misu, Megumi Yokota, Wataru Yamagami","doi":"10.2302/kjm.2024-0024-RE","DOIUrl":"https://doi.org/10.2302/kjm.2024-0024-RE","url":null,"abstract":"<p><p>High-grade serous carcinoma (HGSC), the most aggressive subtype of epithelial ovarian cancer, is strongly associated with hereditary breast and ovarian cancer (HBOC) syndrome and is primarily linked to germline BRCA1/2 pathogenic variants (PVs). The cumulative risks of ovarian cancer by the age of 70 years are 40% and 18% for carriers of BRCA1 and BRCA2 PVs, respectively. Risk-reducing salpingo-oophorectomy (RRSO) is a recommended preventive strategy that reduces the risk of ovarian cancer by more than 80% and may improve overall survival. However, surgical menopause after RRSO poses several challenges, including infertility and hormonal deficiency. Although the use of hormone replacement therapy may alleviate symptoms, it requires careful consideration of breast cancer risk. Emerging strategies, such as prophylactic salpingectomy with delayed oophorectomy, are being investigated to balance cancer prevention and patient quality of life. Further research is required to refine personalized prevention and management approaches for HBOC-associated ovarian cancer.</p>","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143701490","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Identification of Issues Related to Enteral Nutrients Using a Database of Near-miss Events from Community Pharmacies. 使用社区药房的未遂事件数据库识别肠内营养素相关问题。
IF 1.1
KEIO JOURNAL OF MEDICINE Pub Date : 2025-03-13 DOI: 10.2302/kjm.2024-0014-OA
Shingo Kondo, Mari Maese, Hiroki Iwata, Noriko Kobayashi, Katsunori Yamaura
{"title":"Identification of Issues Related to Enteral Nutrients Using a Database of Near-miss Events from Community Pharmacies.","authors":"Shingo Kondo, Mari Maese, Hiroki Iwata, Noriko Kobayashi, Katsunori Yamaura","doi":"10.2302/kjm.2024-0014-OA","DOIUrl":"https://doi.org/10.2302/kjm.2024-0014-OA","url":null,"abstract":"<p><p>Undernutrition is a common risk after surgery or during periods when oral dietary intake is challenging. Enteral nutrients, frequently utilized in nutritional management, are drugs associated with multiple contraindications involving pathology and allergy, and they require careful attention in dispensing. However, the occurrence of nutrition-related incidents in community pharmacies remains unknown. This study aimed to identify issues regarding the safety of pharmacotherapy in patients requiring enteral nutrition using the database of Project to Collect and Analyze Pharmaceutical Near-Miss Event Information. We highlighted the critical information that pharmacists should focus on to prevent accidents and elucidated the details and prescription drugs of cases that matched the search for \"Nutrition (all included)\" in Japanese. There were 475 cases reported between January 2009 and September 2023. Of these, 347 cases (73%) were classified as \"inquiry about prescription and provision of information to prescribing physician\" (Category II) and 115 cases (24%) were classified as \"drug dispensing\" (Category I). In both cases, the top five drugs were enteral nutrients. Among the life-threatening Category II cases, 9 cases were for pathological contraindications including severe liver or renal dysfunction, 6 cases were for adverse reactions including diarrhea, and 5 cases were for allergies or patient constitutions. Notably, the incidence of adverse reactions was higher than in data for the latest annual reports. Therefore, pharmacists should be mindful while dealing with prescriptions involving possible contraindications in patients requiring enteral nutrition. Pharmacists should contribute to the provision of safe pharmacotherapy by remaining vigilant against dispensing errors.</p>","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143617555","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Potential New Tumors Associated with Hereditary Breast and Ovarian Cancer (HBOC). 与遗传性乳腺癌和卵巢癌(HBOC)相关的潜在新肿瘤
IF 1.1
KEIO JOURNAL OF MEDICINE Pub Date : 2025-03-12 DOI: 10.2302/kjm.2024-0023-RE
Kohei Nakamura, Kenta Masuda, Tomoko Seki, Minoru Kitago, Takeo Kosaka, Yumiko Goto, Mamiko Yamada, Kumiko Misu, Ikumi Ono, Yusuke Kobayashi, Wataru Yamagami
{"title":"Potential New Tumors Associated with Hereditary Breast and Ovarian Cancer (HBOC).","authors":"Kohei Nakamura, Kenta Masuda, Tomoko Seki, Minoru Kitago, Takeo Kosaka, Yumiko Goto, Mamiko Yamada, Kumiko Misu, Ikumi Ono, Yusuke Kobayashi, Wataru Yamagami","doi":"10.2302/kjm.2024-0023-RE","DOIUrl":"https://doi.org/10.2302/kjm.2024-0023-RE","url":null,"abstract":"<p><p>Hereditary breast and ovarian cancer syndrome (HBOC) is traditionally associated with mutations in the BRCA1 and BRCA2 genes, predominantly impacting breast, ovarian, pancreatic, and prostate cancers. However, recent research suggests that these mutations may also predispose carriers to a broader spectrum of malignancies, including biliary tract, cervical, colorectal, endometrial, esophageal, and gastric cancers. This review presents findings from extensive datasets, including a significant study from a nationwide Japanese biobank that examined cancer risks in 63,828 patients and 37,086 controls. Our review highlights notable associations, such as an increased risk of uterine and cervical cancers in BRCA1 mutation carriers and increased risk of esophageal and gastric cancers in BRCA2 mutation carriers. These emerging associations underscore the necessity of revisiting and potentially expanding current clinical guidelines to incorporate these additional risks. These findings advocate a comprehensive approach to genetic counseling and underscore the importance of tailored cancer surveillance strategies in populations carrying BRCA mutations. This expanded understanding could significantly influence preventive, diagnostic, and therapeutic strategies, promoting personalized approaches to manage and potentially prevent these malignancies in genetically susceptible populations.</p>","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143617558","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mental Health Care among Cancer Patients with BRCA Gene Mutations: The Potential of Mindfulness-based Intervention. BRCA基因突变癌症患者的心理健康护理:正念干预的潜力。
IF 1.1
KEIO JOURNAL OF MEDICINE Pub Date : 2025-02-22 DOI: 10.2302/kjm.2024-0019-RE
Mari Takeuchi, Sunre Park
{"title":"Mental Health Care among Cancer Patients with BRCA Gene Mutations: The Potential of Mindfulness-based Intervention.","authors":"Mari Takeuchi, Sunre Park","doi":"10.2302/kjm.2024-0019-RE","DOIUrl":"https://doi.org/10.2302/kjm.2024-0019-RE","url":null,"abstract":"<p><p>Hereditary breast and ovarian cancer syndrome (HBOC) is a hereditary tumor syndrome caused by mutations in BRCA genes. Advances in genetic testing technologies have enabled surveillance and risk-reducing surgeries for carriers of BRCA mutations, allowing for the early detection and prevention of cancer. However, the research and support infrastructure for addressing the psychological and social impacts of genetic diagnostics remain insufficient, and there is a need for mental and psychological support based on the needs of patients and their families. Here, we provide an overview of mindfulness, a psychotherapy that has been demonstrated to be effective in alleviating psychological distress in cancer patients, and we discuss the prospects for mindfulness therapy in HBOC patients.</p>","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143494038","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Intractable Pruritus as Initial Presentation of Cytomegalovirus -Tuberculosis Coinfections. 顽固性瘙痒是巨细胞病毒-结核合并感染的初始表现。
IF 1.1
KEIO JOURNAL OF MEDICINE Pub Date : 2025-02-07 DOI: 10.2302/kjm.2024-0012-CR
Shivnarayan Sahu, Priyavadhana Balasubramanian, Prasan Kumar Panda, Prativa Sethi
{"title":"Intractable Pruritus as Initial Presentation of Cytomegalovirus -Tuberculosis Coinfections.","authors":"Shivnarayan Sahu, Priyavadhana Balasubramanian, Prasan Kumar Panda, Prativa Sethi","doi":"10.2302/kjm.2024-0012-CR","DOIUrl":"https://doi.org/10.2302/kjm.2024-0012-CR","url":null,"abstract":"<p><p>Coinfection of cytomegalovirus (CMV) and Mycobacterium tuberculosis presenting with acquired perforating dermatosis is a rare occurrence and remains poorly described in the literature. A man in his 40s, a farmer and chronic smoker, who was partially treated for tuberculosis, presented with a history of fever, weight loss, cough, generalized lymphadenopathy, severe pruritus, and skin lesions. Imaging findings suggested tuberculosis, which was confirmed by sputum examination. Histopathological examinations confirmed CMV lymphadenitis associated with acquired perforating dermatosis. Treatment included antitubercular therapy and a multidrug regimen for severe pruritus, leading to symptomatic improvement. Despite initial progress, the patient was lost to follow-up and later succumbed at home, emphasizing the importance of timely intervention for coinfected tuberculosis and cytomegalovirus diseases. This case highlights the rarity of cytomegalovirus and tuberculosis coinfection, the diagnostic complexities, the challenges associated with the treatment of intractable pruritus, and the necessity of ensuring proper follow-up.</p>","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143383598","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Unilateral Frosted Branch Angiitis Following COVID-19 Disease: Case Report and Literature Review. 新冠肺炎后单侧霜状支血管炎病例报告及文献复习
IF 1.1
KEIO JOURNAL OF MEDICINE Pub Date : 2025-02-05 DOI: 10.2302/kjm.2024-0010-CR
Asma Alzuabi, Abdulrahman Albloushi
{"title":"Unilateral Frosted Branch Angiitis Following COVID-19 Disease: Case Report and Literature Review.","authors":"Asma Alzuabi, Abdulrahman Albloushi","doi":"10.2302/kjm.2024-0010-CR","DOIUrl":"https://doi.org/10.2302/kjm.2024-0010-CR","url":null,"abstract":"<p><p>Frosted branch angiitis (FBA) is a rare and aggressive form of retinal vasculitis that can cause vision loss. This condition is typically idiopathic and can be associated with various infections or malignancies. Recently, FBA has been linked to COVID-19 in some reports. This report describes a rare association between COVID-19 and FBA and presents characteristic findings from multimodal imaging. We describe the case of a 30-year-old man, otherwise healthy, who experienced acute vision loss in his left eye 1 week after testing positive for COVID-19. His initial visual acuity was 20/20 in the right eye and counting fingers at 2 feet in the left eye. A fundus examination disclosed extensive vascular sheathing affecting the arteries and veins, accompanied by widespread intraretinal, preretinal, and subretinal hemorrhages indicative of FBA. Fundus fluorescein angiography revealed notably delayed filling in both arterial and venous systems. Optical coherence tomography of the left eye displayed inner retinal layer hyperreflectivity, suggesting ischemia coupled with substantial subretinal fluid. The systemic evaluation of the patient was unremarkable. The treatment included systemic corticosteroids, azathioprine, intravitreal bevacizumab, and panretinal photocoagulation. After 6 months of treatment, the left eye examination showed resolution of vascular sheathing, retinal hemorrhages, and subretinal fluid, although the final visual acuity in the left eye remained unchanged. In conclusion, FBA may manifest in otherwise healthy and immunocompetent individuals following SARS-CoV-2 infection.</p>","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143257015","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Acute Kidney Injury as the First Manifestation of Sarcoidosis. 急性肾损伤是结节病的首要表现。
IF 1.1
KEIO JOURNAL OF MEDICINE Pub Date : 2025-01-29 DOI: 10.2302/kjm.2023-0020-CR
Leonid Dvoretsky, Nina Sidoruk, Sergey Krivushkin, Andrey Stepanchenko, Svetlana Rachina, Ekaterina Stolyarevich, Heshan Radeesha De Silva
{"title":"Acute Kidney Injury as the First Manifestation of Sarcoidosis.","authors":"Leonid Dvoretsky, Nina Sidoruk, Sergey Krivushkin, Andrey Stepanchenko, Svetlana Rachina, Ekaterina Stolyarevich, Heshan Radeesha De Silva","doi":"10.2302/kjm.2023-0020-CR","DOIUrl":"https://doi.org/10.2302/kjm.2023-0020-CR","url":null,"abstract":"<p><p>We describe a case of sarcoidosis in a previously healthy 39-year-old man with the development of an acute kidney injury, requiring renal replacement therapy, as the first manifestation of the disease. The course of the disease was complicated by a сatheter-associated bloodstream infection. According to the histological examination of kidney biopsy samples, granulomatous interstitial nephritis was diagnosed. Extensive examination of the patient revealed persistent hypercalcemia, elevated transaminase levels, intrathoracic lymphadenopathy, and infiltrates in the lungs. Other diseases, such as anti-neutrophil cytoplasmic antibody-associated vasculitis, tuberculosis, autoimmune liver diseases, and systemic lupus erythematosus, were ruled out. The patient was treated with pulse therapy of methylprednisolone, which then switched to oral glucocorticoids (prednisolone 60 mg/day followed by a gradual decrease in the dose). The 9-month follow-up revealed a regression of lung lesions and improvement of the impaired renal function. The prednisolone dose was reduced to 7.5 mg/day, and renal replacement therapy was discontinued.</p>","PeriodicalId":46245,"journal":{"name":"KEIO JOURNAL OF MEDICINE","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143068210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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