CEN Case Reports最新文献_第3页

Two cases of lysozyme-induced nephropathy with varying underlying diseases: myelodysplastic syndrome and chronic myelomonocytic leukemia. 溶菌酶所致肾病伴不同基础疾病2例：骨髓增生异常综合征和慢性髓单细胞白血病。

IF 1

CEN Case Reports Pub Date : 2026-08-12 DOI: 10.1007/s13730-026-01170-x

Hisashi Furukawa, Tsutomu Inoue, Minako Tanioka, Yuya Kusuyama, Mizuya Ito, Tatsuo Kondo, Daichi Fukaya, Hiroaki Amano, Koji Tomori, Yusuke Watanabe, Hiromichi Iwashita, Mei Hamada, Koji Okudera, Tomoiku Takaku, Yuichi Nakamura, Hirokazu Okada

{"title":"Two cases of lysozyme-induced nephropathy with varying underlying diseases: myelodysplastic syndrome and chronic myelomonocytic leukemia.","authors":"Hisashi Furukawa, Tsutomu Inoue, Minako Tanioka, Yuya Kusuyama, Mizuya Ito, Tatsuo Kondo, Daichi Fukaya, Hiroaki Amano, Koji Tomori, Yusuke Watanabe, Hiromichi Iwashita, Mei Hamada, Koji Okudera, Tomoiku Takaku, Yuichi Nakamura, Hirokazu Okada","doi":"10.1007/s13730-026-01170-x","DOIUrl":"10.1007/s13730-026-01170-x","url":null,"abstract":"Lysozyme-induced nephropathy (LyN) is a rare kidney complication associated with chronic myelomonocytic leukemia (CMML). This condition is characterized by distinctive pathological features, including granules within proximal tubular cells that stain positively with periodic acid-Schiff or lysozyme staining, and granular deposits identified as high-electron-density deposits under electron microscopy. Although CMML is the most common cause of LyN, previous reports have suggested that its occurrence may be associated with the myelodysplastic syndrome (MDS). This report describes cases of LyN in a patient with MDS and CMML. Although both the LyN cases, caused by either MDS or CMML, exhibited similar kidney pathological findings, there was a clinical difference in the occurrence of peripheral blood monocytosis. The MDS-induced LyN showed no persistent peripheral blood monocytosis and, when the bone marrow biopsy specimens were stained with lysozyme, numerous positive cells were observed. Thus, hematologic disorders wherein the bone marrow comprises lysozyme-producing cells may induce LyN, even without peripheral blood monocytosis.","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":"15 5","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13461999/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148711281","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

Subarachnoid hemorrhage and cerebral infarction in anti-glomerular basement membrane disease: a case report and literature review. 抗肾小球基底膜病伴蛛网膜下腔出血及脑梗死1例报告并文献复习。

IF 1

CEN Case Reports Pub Date : 2026-08-12 DOI: 10.1007/s13730-026-01172-9

Kohei Oka, Takayuki Kawaoka, Rina Oda, Haruna Tanoue, Kumie Teramoto, Ryoko Tatsumi, Nachi Ishikawa, Hitoshi Mizuno

{"title":"Subarachnoid hemorrhage and cerebral infarction in anti-glomerular basement membrane disease: a case report and literature review.","authors":"Kohei Oka, Takayuki Kawaoka, Rina Oda, Haruna Tanoue, Kumie Teramoto, Ryoko Tatsumi, Nachi Ishikawa, Hitoshi Mizuno","doi":"10.1007/s13730-026-01172-9","DOIUrl":"10.1007/s13730-026-01172-9","url":null,"abstract":"Anti-glomerular basement membrane (anti-GBM) disease is a rare autoimmune disorder characterized by rapidly progressive glomerulonephritis, with or without pulmonary hemorrhage. Central nervous system (CNS) involvement is exceedingly uncommon, and intracranial subarachnoid hemorrhage (SAH) has rarely been described in association with anti-GBM disease. We report a rare case of anti-GBM disease complicated by intracranial SAH and subsequent cerebral infarction. A 53-year-old woman presented with fever and headache and rapidly developed acute kidney injury with markedly elevated anti-GBM antibody titers. Renal biopsy confirmed anti-GBM disease. Despite treatment with plasma exchange and high-dose corticosteroids, renal function deteriorated, and the patient became dialysis-dependent. Rituximab was added to achieve serological control after an insufficient response to conventional therapy. During the clinical course, the patient developed a generalized seizure and was diagnosed with intracranial SAH, followed later by a subacute cerebral infarction. Cerebral angiography revealed no aneurysms or vascular malformations. Blood pressure had remained stable prior to the neurological event. Following intensive management, including continued plasma exchange, rituximab, corticosteroids, and strict blood pressure control, no neurological sequelae were observed. Anti-GBM antibody titers gradually declined, although renal function did not recover. This case illustrates a rare occurrence of intracranial subarachnoid hemorrhage as a central nervous system complication in anti-GBM disease and highlights the importance of careful neurological monitoring.","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":"15 5","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13461978/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148711336","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

Acute kidney injury as a reversible manifestation of bilateral renal ınfiltration in high-grade B-cell lymphoma: diagnostic and therapeutic ımplications. 急性肾损伤作为双侧肾脏可逆表现ınfiltration在高级别b细胞淋巴瘤：诊断和治疗ımplications。

IF 1

CEN Case Reports Pub Date : 2026-08-11 DOI: 10.1007/s13730-026-01169-4

Rafiye Ciftciler, Hasan Onner, Ali Erdinc Ciftciler

引用次数: 0

Influenza A(H1N1) triggered atypical hemolytic uremic syndrome in a child with homozygous CD46 variant successfully treated with ravulizumab: a case report. 甲型流感（H1N1）引发非典型溶血性尿毒症综合征的儿童纯合子CD46变异成功治疗的ravulizumab：一个病例报告。

IF 1

CEN Case Reports Pub Date : 2026-08-11 DOI: 10.1007/s13730-026-01171-w

Liliana Mazzillo Vega, Andrea Camila Montero Zambrano, Alejandro Luna Mazzillo

{"title":"Influenza A(H1N1) triggered atypical hemolytic uremic syndrome in a child with homozygous CD46 variant successfully treated with ravulizumab: a case report.","authors":"Liliana Mazzillo Vega, Andrea Camila Montero Zambrano, Alejandro Luna Mazzillo","doi":"10.1007/s13730-026-01171-w","DOIUrl":"10.1007/s13730-026-01171-w","url":null,"abstract":"To describe a pediatric case of aHUS triggered by influenza A(H1N1) infection in a patient with a homozygous pathogenic variant in CD46, successfully treated with ravulizumab. A previously healthy 12-year-old girl presented with a four-day history of fever, diarrhea, abdominal pain, mucosal bleeding, jaundice, and acute kidney injury. Initial evaluation confirmed microangiopathic hemolytic anemia and thrombocytopenia. ADAMTS13 activity was preserved. Nasopharyngeal polymerase chain reaction testing detected influenza A virus subtype H1N1, and a multiplex gastrointestinal polymerase chain reaction panel identified enteropathogenic Escherichia coli; Shiga toxin was not detected. Despite therapeutic plasma exchange and hemodialysis, there was no hematologic or renal improvement, and multi-organ involvement persisted, including respiratory failure and elevated pancreatic enzyme levels. Terminal complement inhibition with ravulizumab was initiated, leading to rapid hematologic normalization and full renal recovery by day 106. Genetic testing revealed a homozygous splice-site variant in CD46 (c.286 + 1G > C), consistent with atypical hemolytic uremic syndrome. This case underscores the importance of early C5 inhibition in complement-mediated thrombotic microangiopathy associated with defects in membrane-bound complement regulators, in which therapeutic plasma exchange may have limited efficacy. It also highlights how infections can act as triggers that unmask underlying genetic susceptibility.","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":"15 5","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13461979/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148705442","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

Maintenance of clinical remission with cyclosporine after discontinuation of prednisolone in a patient with tubulointerstitial nephritis with IgM-positive plasma cells. igm阳性浆细胞肾小管间质性肾炎患者停用强的松龙后环孢素维持临床缓解。

IF 1

CEN Case Reports Pub Date : 2026-08-03 DOI: 10.1007/s13730-026-01153-y

Kazuki Yamada, Shiori Nakao, Minori Ikeda, Reina Suetsugu-Ishizawa, Nozomi Hayashi, Hirofumi Sakuma, Motoki Matsuki, Naoki Takahashi, Masayuki Iwano, Tadashi Toyama, Yayoi Ogawa, Naoki Nakagawa

{"title":"Maintenance of clinical remission with cyclosporine after discontinuation of prednisolone in a patient with tubulointerstitial nephritis with IgM-positive plasma cells.","authors":"Kazuki Yamada, Shiori Nakao, Minori Ikeda, Reina Suetsugu-Ishizawa, Nozomi Hayashi, Hirofumi Sakuma, Motoki Matsuki, Naoki Takahashi, Masayuki Iwano, Tadashi Toyama, Yayoi Ogawa, Naoki Nakagawa","doi":"10.1007/s13730-026-01153-y","DOIUrl":"10.1007/s13730-026-01153-y","url":null,"abstract":"Tubulointerstitial nephritis (TIN) with IgM-positive plasma cells (IgMPC-TIN) is an inflammatory disease characterized by the infiltration of IgM and CD138 dual-positive plasma cells into the renal interstitium. Steroid treatment is effective for many cases of IgMPC-TIN. However, the optimal dose and duration of steroid therapy remain poorly understood. In the present case, IgMPC-TIN was diagnosed in a 36-year-old woman with femoral head osteonecrosis. After administration of prednisolone (PSL, 20 mg/day), several markers of disease activity gradually decreased. The PSL dose was tapered to 5 mg/day for one year without TIN recurrence. To avoid exacerbation of bone lesions due to prolonged administration of PSL, cyclosporine was added to PSL. Combination treatment with 5 mg/day PSL and 100-125 mg/day cyclosporine stabilized the TIN. The patient remained stable without recurrence after further reduction and discontinuation of PSL. This case provides original evidence regarding the optimal treatment regimen for patients with IgMPC-TIN who are unsuitable for prolonged PSL administration.","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":"15 5","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13433678/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148663476","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

Immune-complex-mediated membranoproliferative glomerulonephritis with linear IgG staining resembling atypical anti-glomerular basement membrane disease: a case report. 免疫复合物介导的膜增生性肾小球肾炎伴线性IgG染色，类似非典型抗肾小球基底膜病1例。

IF 1

CEN Case Reports Pub Date : 2026-08-03 DOI: 10.1007/s13730-026-01167-6

Mikako Hisamichi-Yamamoto, Daisuke Ichikawa, Shu Ushimaru, Sayuri Shirai, Junki Koike, Tsutomu Sakurada, Yugo Shibagaki

{"title":"Immune-complex-mediated membranoproliferative glomerulonephritis with linear IgG staining resembling atypical anti-glomerular basement membrane disease: a case report.","authors":"Mikako Hisamichi-Yamamoto, Daisuke Ichikawa, Shu Ushimaru, Sayuri Shirai, Junki Koike, Tsutomu Sakurada, Yugo Shibagaki","doi":"10.1007/s13730-026-01167-6","DOIUrl":"10.1007/s13730-026-01167-6","url":null,"abstract":"Anti-glomerular basement membrane (anti-GBM) disease typically presents as rapidly progressive glomerulonephritis, however an atypical anti-GBM nephritis with various light microscopic findings without crescentic formation has been reported in recent years. The findings reported including cases with membranoproliferative glomerulonephritis (MPGN) pattern. Few reports have been able to follow the course of the disease over a long period of time. We report a case of MPGN associated with the spectrum of atypical anti-GBM nephritis that showed a slowly progressive course over more than eight years. A 49-year-old man underwent kidney biopsy because of hypertension, proteinuria, and mild renal insufficiency. The findings on kidney biopsy showed the findings of MPGN. Immunofluorescence microscopy revealed bright linear staining of IgG on the GBM. Electron microscopy showed subepithelial, intra-basement membrane, subendothelial, and paramesangial electron-dense deposits. Serum anti-GBM antibodies were negative. Proteinuria had been present for 4 years prior to the renal biopsy, however no worsening of renal function was observed. Because of worsening proteinuria and the presence of endocapillary hypercellularity in the tissues, the intravenous and oral steroids were started. Although the proteinuria showed slight improvement, the serum creatinine level was stable around 1.5-1.7 mg/dl. Although some indolent cases of atypical anti-GBM syndrome were reported previously, compared with these cases, our patient had more stable renal function for a long time. This is a rare case of resembling atypical anti-GBM disease that shows MPGN with linear IgG staining having a long-term indolent course and without secondary etiology.","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":"15 5","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13433708/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148663450","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

Renal cysts in WDR72-associated distal renal tubular acidosis: expanding the phenotypic spectrum. wdr72相关远端肾小管酸中毒的肾囊肿：扩大表型谱。

IF 1

CEN Case Reports Pub Date : 2026-08-03 DOI: 10.1007/s13730-026-01168-5

Pujitha Vallabhaneni, Lesa Dawman, Anmol Bhatia, Vinay Kumar, Anju Bala, Karalanglin Tiewsoh

{"title":"Renal cysts in WDR72-associated distal renal tubular acidosis: expanding the phenotypic spectrum.","authors":"Pujitha Vallabhaneni, Lesa Dawman, Anmol Bhatia, Vinay Kumar, Anju Bala, Karalanglin Tiewsoh","doi":"10.1007/s13730-026-01168-5","DOIUrl":"10.1007/s13730-026-01168-5","url":null,"abstract":"Pathogenic variants in the WDR72 gene are known to cause hypoplastic amelogenesis imperfecta (AI) and have recently been linked to distal renal tubular acidosis (dRTA). This case report highlights an unusual presentation of WDR72-associated dRTA with renal cysts. A 12-year-old boy presented with difficulty walking, lower limb deformities, and significant growth retardation. On examination, hypoplastic AI, rickets, and short stature were present. Biochemical investigations showed hypokalemia, hypophosphatemia, elevated alkaline phosphatase, and hypercalciuria. Imaging revealed medullary nephrocalcinosis and renal cysts. Clinical exome sequencing identified a homozygous pathogenic nonsense variant in WDR72 (NM_182758.4): c.2934G > A (p.Trp978Ter), consistent with autosomal recessive inheritance. He was diagnosed with dRTA and managed with potassium citrate and phosphate supplementation. Over two years, the patient showed improved growth velocity and reduced hypercalciuria, though nephrocalcinosis and renal cysts persisted. This case of WDR72-associated dRTA complicated by renal cyst formation is an underrecognized phenotype of this rare disorder. It further highlights that delayed diagnosis and prolonged, uncorrected tubulopathy may result in structural renal injury that is not fully reversible with treatment. Systematic renal evaluation, including biochemical assessment and renal ultrasonography, is strongly warranted in all children presenting with AI, particularly in the presence of concurrent growth failure, electrolyte disturbances, or rachitic changes, to facilitate early diagnosis and mitigate the risk of long-term renal sequelae.","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":"15 5","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13433696/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148663427","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

Early identification of LPIN1 variant in a child with severe myoglobinuria and a history of sibling deaths. 严重肌红蛋白尿和有兄弟姐妹死亡史的儿童早期发现LPIN1变异

IF 1

CEN Case Reports Pub Date : 2026-08-03 DOI: 10.1007/s13730-026-01166-7

Mian Muhammad Hassan Ahmed, Sadia Riaz, Nausheen Fatima, Syed Muhammad Qasim

{"title":"Early identification of LPIN1 variant in a child with severe myoglobinuria and a history of sibling deaths.","authors":"Mian Muhammad Hassan Ahmed, Sadia Riaz, Nausheen Fatima, Syed Muhammad Qasim","doi":"10.1007/s13730-026-01166-7","DOIUrl":"10.1007/s13730-026-01166-7","url":null,"abstract":"Rhabdomyolysis in children is frequently attributed to viral myositis or trauma; however, severe or recurrent episodes precipitated by febrile illnesses often indicate an underlying genetic myopathy. Variants in the LPIN1 gene, which encodes the phosphatidic acid phosphatase Lipin-1, have recently emerged as a major cause of early-onset, life-threatening rhabdomyolysis (Autosomal Recessive Acute Recurrent Myoglobinuria). We present the case of a 5-year-old female who presented with acute onset profound lethargy, generalized muscle weakness, and cola-colored urine following a viral prodrome, on a background of previous similar milder episodes. The patient's family history was significant for consanguinity and the unexplained deaths of two siblings at similar ages. Laboratory investigations revealed massive rhabdomyolysis with a creatine phosphokinase (CPK) level of 59,679 U/L and significant myoglobinuria, though renal function remained initially preserved. Given the severity of the presentation and family history, comprehensive genetic investigation was pursued. Whole Exome Sequencing (WES) of a similarly affected younger sibling, followed by targeted familial screening, identified a homozygous variant in the LPIN1 gene; NM_001349206.2: c.2360_2361delinsGA p.(Pro787Arg) in our patient. The patient was managed conservatively with vigorous hydration and alkalinization of urine, resulting in clinical improvement without the development of acute renal failure. LPIN1 deficiency is a critical differential diagnosis in pediatric patients presenting with unexplained, massive rhabdomyolysis, particularly in the context of consanguinity or a history of sibling mortality preceded by muscle weakness. This case highlights the utility of Whole Exome Sequencing post-stabilization to establish a strong molecular basis for the diagnosis, which terminates the diagnostic odyssey and is essential for providing genetic counseling to affected families.","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":"15 5","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13433659/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148663435","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

Diagnosis of fibrillary glomerulonephritis suggests possible atypical familial Mediterranean fever in a patient with ulcerative colitis. 原纤维性肾小球肾炎的诊断提示溃疡性结肠炎患者可能有非典型家族性地中海热。

IF 1

CEN Case Reports Pub Date : 2026-07-30 DOI: 10.1007/s13730-026-01162-x

Atsushi Sawase, Shinichi Abe, Kumiko Muta, Kenta Torigoe, Ayuko Yamashita, Mineaki Kitamura, Aya Nawata, Junya Shiota, Remi Sumiyoshi, Shigehisa Aoki, Dedong Kang, Yayoi Ogawa, Atsushi Kawakami, Hiroshi Mukae, Tomoya Nishino

{"title":"Diagnosis of fibrillary glomerulonephritis suggests possible atypical familial Mediterranean fever in a patient with ulcerative colitis.","authors":"Atsushi Sawase, Shinichi Abe, Kumiko Muta, Kenta Torigoe, Ayuko Yamashita, Mineaki Kitamura, Aya Nawata, Junya Shiota, Remi Sumiyoshi, Shigehisa Aoki, Dedong Kang, Yayoi Ogawa, Atsushi Kawakami, Hiroshi Mukae, Tomoya Nishino","doi":"10.1007/s13730-026-01162-x","DOIUrl":"10.1007/s13730-026-01162-x","url":null,"abstract":"Fibrillary glomerulonephritis (FGN) is a rare glomerular disease that typically presents in middle age, and reports in young adults are uncommon. Herein, we describe the case of a 22-year-old woman with ulcerative colitis who was referred for evaluation of persistent proteinuria and microscopic hematuria. Kidney biopsy showed mild mesangial hypercellularity with increased mesangial matrix on light microscopy. Electron microscopy revealed randomly oriented, nonbranching microfibrils measuring approximately 20 nm in diameter within the mesangial areas. Immunohistochemistry for DnaJ heat shock protein family member B9 (DNAJB9) was positive in the glomeruli, confirming the diagnosis of FGN. Given the unusually young onset, the clinical course, and the presence of intestinal inflammatory lesions, an autoinflammatory disorder, specifically atypical familial Mediterranean fever (FMF), was suspected. Therapy with an angiotensin II receptor blocker was initiated for proteinuria, and colchicine was subsequently added while mesalazine was tapered. After treatment, urinary protein excretion decreased, and endoscopic and histologic bowel inflammation improved. This case highlights three practical points: DNAJB9 immunostaining is useful to establish FGN when classic ultrastructural features are present, FGN can occur in young adults, prompting evaluation for underlying systemic or autoinflammatory conditions, and in patients with intestinal lesions resembling inflammatory bowel disease, consideration of FMF may lead to colchicine therapy that benefits renal and gastrointestinal manifestations.","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":"15 4","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13421720/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148618488","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

Tumor-to-tumor metastasis of breast carcinoma to clear cell renal cell carcinoma: a rare case with a review of the literature. 乳腺癌到透明细胞肾细胞癌的肿瘤间转移：一例罕见病例并复习文献。

IF 1

CEN Case Reports Pub Date : 2026-07-28 DOI: 10.1007/s13730-026-01156-9

Nobuyuki Nakajima, Hiroshi Kajiwara, Kenta Okutsu, Toshiki Sakemura, Haruka Ikoma, Tatsuya Otaki, Soichiro Yuzuriha, Takato Uchida, Tatsuya Umemoto, Yoshiaki Kawamura, Yohei Masugi, Sunao Shoji

{"title":"Tumor-to-tumor metastasis of breast carcinoma to clear cell renal cell carcinoma: a rare case with a review of the literature.","authors":"Nobuyuki Nakajima, Hiroshi Kajiwara, Kenta Okutsu, Toshiki Sakemura, Haruka Ikoma, Tatsuya Otaki, Soichiro Yuzuriha, Takato Uchida, Tatsuya Umemoto, Yoshiaki Kawamura, Yohei Masugi, Sunao Shoji","doi":"10.1007/s13730-026-01156-9","DOIUrl":"10.1007/s13730-026-01156-9","url":null,"abstract":"Tumor-to-tumor metastasis (TTM) is a rare clinicopathological phenomenon in which a malignant tumor metastasizes to another distinct neoplasm. Although renal cell carcinoma (RCC) is a frequent recipient tumor, metastasis from breast carcinoma to RCC is extremely rare. A 64-year-old woman with long-standing hormone receptor-positive breast carcinoma presented with a 23-mm enhancing right renal mass. Robot-assisted partial nephrectomy revealed clear cell RCC with intratumoral nests of metastatic breast carcinoma. Immunohistochemistry revealed a reciprocal staining profile: RCC cells were positive for PAX8 and CA9, whereas metastatic breast carcinoma cells expressed CK7 and GATA3 with weak ER positivity. Clear cell RCC may serve as a recipient tumor for breast carcinoma metastasis, emphasizing that TTM should be considered in the differential diagnosis of renal masses in patients with a history of breast carcinoma, even when imaging findings are consistent with conventional RCC.","PeriodicalId":9697,"journal":{"name":"CEN Case Reports","volume":"15 4","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13415395/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148599086","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