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1.
Pathol Int ; 74(3): 146-153, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38240415

RESUMO

A woman in her 60s with rheumatoid arthritis was admitted with fever and abdominal pain. Laparoscopic examination with the differential diagnosis of peritoneal neoplasm and infection revealed granulomatous phlebitis in the resected greater omentum. Amorphous eosinophilic deposits observed in the resected tissue exhibited focal, weak positivity for Congo red but were strongly positive for thioflavin S, confirming their focal amyloid properties. Marked degeneration of elastic fibers was also evident. Electron microscopy revealed deposits around the affected elastic fibers. Immunohistochemistry revealed the deposition of epidermal growth factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1) along with T-cell-predominant lymphocytic inflammation. The definitive diagnosis was granulomatous enterocolic lymphocytic phlebitis (ELP) associated with EFEMP1 deposition exhibiting focal amyloid properties (EFEMP1/AEFEMP1), supported by proteomics analysis. This type of vasculitis is similar to amyloid-ß-related angiitis of the central nervous system. Thus, we speculate that granulomatous ELP also results from an immune response that recognizes EFEMP1/AEFEMP1 deposits as foreign material and attempts to remove them. Confirmation of EFEMP1/AEFEMP1 deposition with Congo red staining is challenging, particularly in the presence of inflammation, and warrants comprehensive evaluation.


Assuntos
Proteínas de Ligação ao Cálcio , Fator de Crescimento Epidérmico , Flebite , Humanos , Feminino , Vermelho Congo , Inflamação , Proteínas da Matriz Extracelular/metabolismo
2.
Int J Mol Sci ; 25(2)2024 Jan 09.
Artigo em Inglês | MEDLINE | ID: mdl-38255886

RESUMO

Anti-neutrophil cytoplasmic antibody-associated vasculitis (AAV) can occasionally trigger thrombotic microangiopathy (TMA). Cytomegalovirus (CMV) may be reactivated during intensive immunosuppressive therapy for AAV and cause TMA. Therefore, we aimed to evaluate the clinical features of and the association between vascular endothelial injury markers and TMA due to CMV in patients with AAV. A 61-year-old female was diagnosed with AAV and severe kidney injury. Immunosuppressive therapy gradually improved her symptoms and laboratory findings. However, 2 weeks after induction therapy initiation, she exhibited altered consciousness, a significant decrease in platelet count, and hemolytic anemia, resulting in a TMA diagnosis. Plasma exchange did not improve TMA findings and routine screening test revealed CMV infection. Ganciclovir injection improved the infection and TMA findings. Consequently, we diagnosed her with CMV-induced TMA. Both AAV and CMV may induce severe vascular endothelial injury, potentially leading to TMA development. CMV-induced TMA should be considered when TMA develops during induction therapy against AAV. Moreover, of the three serum markers of vascular injury-serum sulfatides, soluble thrombomodulin, and pentraxin 3-serum sulfatides may be associated with the development of TMA, and a high level of soluble thrombomodulin may be associated with the development of CMV viremia during the clinical course of AAV.


Assuntos
Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos , Infecções por Citomegalovirus , Microangiopatias Trombóticas , Lesões do Sistema Vascular , Humanos , Feminino , Pessoa de Meia-Idade , Anticorpos Anticitoplasma de Neutrófilos , Trombomodulina , Sulfoglicoesfingolipídeos , Infecções por Citomegalovirus/complicações , Citomegalovirus , Microangiopatias Trombóticas/diagnóstico , Microangiopatias Trombóticas/etiologia , Vasculite Associada a Anticorpo Anticitoplasma de Neutrófilos/complicações
3.
Tohoku J Exp Med ; 243(4): 335-341, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-29269610

RESUMO

Renal prognosis for anti-glomerular basement membrane (GBM) glomerulonephritis is poor. The greater the amount of anti-GBM antibody binding the antigen (type IV collagen of the glomerular basement membrane), the greater the number of crescents that develop in glomeruli, resulting in progression of renal impairment. Immunofluorescence staining reveals linear IgG depositions on glomerular capillary walls. Membranous nephropathy (MN) is one of the most common causes of nephrotic syndrome in middle-aged to elderly patients. Immune complex is deposited in the sub-epithelial space of the glomerulus resulting in the development of a membranous lesion. Immunofluorescence staining reveals granular IgG depositions on glomerular capillary walls. Coexisting anti-GBM glomerulonephritis and MN are rare and, here we report a case of coexisting anti-GBM glomerulonephritis and MN with preserved renal function. There are some cases of coexisting anti-GBM glomerulonephritis and MN do not show severely decreased renal function. A 76-year-old Japanese woman presented with nephrotic syndrome, microscopic hematuria, and was positive for anti-GBM antibody. Kidney biopsy revealed linear and granular IgG depositions in glomerular capillary walls, crescent formations, and electron-dense deposits in the sub-epithelial space. She was diagnosed with anti-GBM glomerulonephritis and MN. Steroid and cyclosporine therapy achieved complete remission, and kidney function was preserved. In conclusion, coexisting anti-GBM glomerulonephritis and MN can have preserved renal function. IgG subclass of deposited anti-GBM antibody may be associated with the severity of anti-GBM glomerulonephritis. In addition, in the case of nephrotic syndrome with hematuria, we should consider the possibility of coexisting anti-GBM glomerulonephritis and MN.


Assuntos
Autoanticorpos/imunologia , Membrana Basal Glomerular/patologia , Membrana Basal Glomerular/fisiopatologia , Glomerulonefrite Membranosa/complicações , Glomerulonefrite Membranosa/fisiopatologia , Testes de Função Renal , Idoso , Biópsia , Feminino , Humanos , Rim/patologia
4.
Am J Med Genet A ; 167A(3): 592-601, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25691411

RESUMO

6p duplication syndrome is a rare chromosomal disorder that frequently manifests renal complications, including proteinuria, hypoplastic kidney, and hydronephrosis. We report a girl with the syndrome, manifesting left hydronephrosis, proteinuria/hematuria, and focal segmental glomerular sclerosis (FSGS) resulting in chronic end-stage renal failure, successfully treated with renal transplantation. Microarray comparative genomic hybridization showed the derivative chromosome 6 to have a 6.4-Mb duplication at 6p25.3-p25.1 with 32 protein-coding genes and a 220-Kb deletion at 6p25.3 with two genes of no possible relation to the renal pathology. Review of the literature shows that variation of renal complications in the syndrome is compatible with congenital anomalies of the kidney and urinary tract (CAKUT). FSGS, observed in another patient with 6p duplication syndrome, could be a non-coincidental complication. FOXC1, located within the 6.4-Mb duplicated region at 6p25.3-p25.2, could be a candidate gene for CAKUT, but its single gene duplication effect would not be sufficient. FSGS would be a primary defect associated with duplicated gene(s) albeit no candidate could be proposed, or might occur in association with CAKUT.


Assuntos
Glomerulosclerose Segmentar e Focal/genética , Hidronefrose/genética , Proteinúria/genética , Trissomia , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Biópsia , Criança , Bandeamento Cromossômico , Cromossomos Humanos Par 6 , Hibridização Genômica Comparativa , Fácies , Feminino , Estudo de Associação Genômica Ampla , Glomerulosclerose Segmentar e Focal/diagnóstico , Humanos , Hidronefrose/diagnóstico , Rim/anormalidades , Rim/patologia , Proteinúria/diagnóstico , Síndrome , Ultrassonografia , Sistema Urinário/anormalidades
5.
Pathol Int ; 65(1): 38-42, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25410550

RESUMO

Multiple myeloma (MM) is a plasma-cell neoplasm that can cause renal disorders. Renal lesions in MM can present with a very rare pathological manifestation involving a specific monoclonal immunoglobulin (Ig). We report the case of a 33-year-old woman who had edema, fatigue, elevated serum creatinine levels, hypoalbuminemia, and hypercholesterolemia. She had persistent hematuria and proteinuria lasting 3 years. Serum protein electrophoresis showed an M-spike, and serum immunofixation demonstrated the presence of monoclonal IgG λ. She had proteinuria in the nephrotic range, and a monoclonal λ fragment was present on urine immunofixation. Renal biopsy showed proliferative glomerulonephritis with λ light chain and C3c deposition and inflammatory cell infiltration with CD68. Macrophage lysosomes contained λ light chains, suggesting their partial phagocytosis. She was diagnosed with symptomatic MM and was treated with bortezomib and dexamethasone and an autologous peripheral stem cell transplant conditioned with intravenous melphalan. She achieved a partial response with decreased serum monoclonal protein and improved renal function. This case may be categorized as a monoclonal gammopathy-associated proliferative glomerulonephritis. The biopsy finding of partially phagocytosed Ig λ light chains by macrophages is very rare; this pathological condition is similar to crystal-storing histiocytosis.


Assuntos
Glomerulonefrite/imunologia , Cadeias lambda de Imunoglobulina/imunologia , Macrófagos/imunologia , Mieloma Múltiplo/imunologia , Adulto , Anticorpos Monoclonais , Feminino , Humanos , Mieloma Múltiplo/complicações , Paraproteinemias/imunologia , Fagocitose/imunologia
6.
BMC Nephrol ; 15: 32, 2014 Feb 13.
Artigo em Inglês | MEDLINE | ID: mdl-24528497

RESUMO

BACKGROUND: Podocytic infolding glomerulopathy (PIG) is a recently described condition causing rare pathological changes to the glomeruli, and has attracted considerable attention. PIG is characterized by specific changes to the thickened glomerular basement membrane (GBM), including microspheres, microtubular structures, and podocytic infolding. Only a small number of cases of PIG have been reported. The clinical features and pathogenesis of this condition are still unclear. To elucidate the characteristics of this glomerulopathy, it is necessary to accumulate information from reported cases. We present here the first reported case of PIG with multiple myeloma. CASE PRESENTATION: A 79-year-old Japanese man was admitted to his local hospital with proteinuria, hypergammaglobulinemia, hypoalbuminemia, and kidney dysfunction. Laboratory tests revealed monoclonal IgG(λ) M proteins in the serum and Bence-Jones proteins in the urine. Bone marrow aspiration showed monoclonal plasma cell proliferation, indicating a diagnosis of multiple myeloma. Renal biopsy was performed to determine the cause of the proteinuria and kidney dysfunction. Histological examination of the biopsy specimen showed glomeruli with an irregularly thickened GBM and bubble-like structures in the capillary walls. Immunofluorescence staining did not show glomerular deposition of immunoglobulins, light chains, or complement components. Congo red staining did not show amyloid deposition. Electron microscopy showed an irregularly thickened GBM with unusual structures in the glomerular capillary walls including podocytic infolding and microspheres, suggesting PIG. There were no electron-dense deposits in the GBM, while various findings indicating podocyte injury were detected. CONCLUSION: We present here the first reported case of PIG in a patient with multiple myeloma. The mechanisms underlying the development of PIG in multiple myeloma are unknown, but may be associated with podocyte injury.


Assuntos
Membrana Basal Glomerular/patologia , Glomerulonefrite Membranosa/patologia , Mieloma Múltiplo/complicações , Mieloma Múltiplo/patologia , Podócitos/patologia , Idoso , Diagnóstico Diferencial , Humanos , Masculino
7.
Neuropathology ; 34(3): 295-303, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-24354431

RESUMO

Gliomatosis cerebri is a rare diffuse glioma that is neither mass-forming nor necrotic, and does not disrupt existing structures. Gliomatosis occurring in the cerebellum is known as gliomatosis cerebelli, and only three such cases examined by biopsy have been reported. Here we describe the first autopsy findings of a patient who was diagnosed as having gliomatosis in the cerebellum. Neuropathological examination identified the tumor cells as being positive for glial fibrillary acidic protein, vimentin and nestin, with atypical nuclei that were cashew-nut- or dishcloth-gourd-shaped. These tumor cells were dense in the right cerebellum, but also spread broadly throughout the brain including the left cerebrum and optic nerve. Mitotic figures were frequently seen in the cerebellum, brain stem and cerebrum. Scherer's secondary structures were evident not only in the cerebellum but also the cerebrum. No necrosis, microvascular proliferation or destruction of anatomical structures was detected in the whole brain. Differences in the origin of the tumors of the gliomatoses cerbri and cerebelli suggests these tumors are different types of brain tumors. Thus the findings support that the gliomatosis cerebelli is a novel type of brain tumor classification. Furthermore, by the similarities of the histological features among the tumors, it appears appropriate to establish a novel category of "gliomatosis encephali" which includes both gliomatosis cerebri and gliomatosis cerebelli.


Assuntos
Neoplasias Cerebelares/patologia , Neoplasias Neuroepiteliomatosas/patologia , Idoso , Autopsia , Neoplasias Encefálicas/patologia , Feminino , Humanos
8.
Cell Immunol ; 281(1): 91-9, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23510922

RESUMO

Characteristics of myelin basic protein (MBP)-induced experimental autoimmune encephalomyelitis (EAE) include acute edema and infiltration of mononuclear cells (MNCs) in the microvessels of central nervous system (CNS). Aquaporin-4 (AQP4) is a water channel protein expressed in astrocytes foot process throughout the CNS. We performed immunostaining, western blotting and semi-quantitative real-time RT-PCR of AQP4 and glial fibrillary acidic protein (GFAP) in CNS from rats immunized with MBP. Immunohistochemical analysis revealed that AQP4 is down-regulated in MNCs infiltrated microvessels of rats with EAE. Furthermore, western blotting and real-time RT-PCR analyses showed that AQP4 was significantly decreased at the stage of severe EAE compared with control rats. On the other hand, expression of GFAP-protein was significantly increased after stage of severe EAE. Our findings suggest that AQP4 may be involved in forming edema in the inflammatory lesions of EAE accompanying with up-regulation of reactive astrocyte.


Assuntos
Aquaporina 4/metabolismo , Encefalomielite Autoimune Experimental/imunologia , Encefalomielite Autoimune Experimental/metabolismo , Proteína Glial Fibrilar Ácida/metabolismo , Animais , Aquaporina 4/imunologia , Astrócitos/metabolismo , Sistema Nervoso Central/imunologia , Sistema Nervoso Central/metabolismo , Sistema Nervoso Central/patologia , Regulação para Baixo , Edema/metabolismo , Encefalomielite Autoimune Experimental/patologia , Feminino , Proteína Glial Fibrilar Ácida/biossíntese , Proteína Glial Fibrilar Ácida/imunologia , Imunização , Leucócitos Mononucleares/metabolismo , Proteína Básica da Mielina/administração & dosagem , Proteína Básica da Mielina/imunologia , Ratos , Ratos Endogâmicos Lew , Medula Espinal/patologia
9.
Kidney Med ; 5(5): 100617, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36942309

RESUMO

The kidney pathology of monoclonal gammopathy of renal significance varies greatly. In this report, we present a woman in her 20s with nephrotic syndrome and monoclonal immunoglobulin G kappa (serum and urine) without diabetes. She had a family history of nephrotic syndrome as well as hematologic and connective tissue disorders. A kidney biopsy showed nodular glomerulosclerosis, with the glomerular capillary full of histiocytes, which were strongly positive for kappa, not lambda. Immunoelectron microscopy revealed that histiocytes had infiltrated the glomerular subendothelial space, and enlarged lysosomes of histiocytes contained kappa light chains, without apparent crystalline formation. Bone marrow examination was negative for malignancy; thus, we diagnosed this case as histiocytic glomerulopathy with noncrystalline inclusion associated with immunoglobulin G-kappa plasma cell dyscrasia. Hematologic treatment with bortezomib and daratumumab decreased her level of serum kappa chain and proteinuria. Two years after diagnosis, her kidney function remained normal, urinary protein level decreased to 1 g/d, and free light-chain ratio decreased to 3.1.

10.
JIMD Rep ; 64(6): 410-416, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37927490

RESUMO

Lysinuric protein intolerance (LPI), caused by pathogenic variants of SLC7A7, is characterized by protein aversion, failure to thrive, hyperammonemia, and hepatomegaly. Recent studies have reported that LPI can cause multiple organ dysfunctions, including kidney disease, autoimmune deficiency, pulmonary alveolar proteinosis, and osteoporosis. We report the case of a 47-year-old Japanese woman who was initially diagnosed with renal tubular acidosis (RTA), Fanconi syndrome, and rickets. At the age of 3 years, she demonstrated a failure to thrive. Urinary amino acid analysis revealed elevated lysine and arginine levels, which were masked by pan-amino aciduria. She was subsequently diagnosed with rickets at 5 years of age and RTA/Fanconi syndrome at 15 years of age. She was continuously treated with supplementation of vitamin D3, phosphate, and bicarbonate. A renal biopsy at 18 years of age demonstrated diffuse proximal and distal tubular damage with endocytosis-lysosome pathway abnormalities. Distinctive symptoms of LPI, such as protein aversion and postprandial hyperammonemia were not observed throughout the patient's clinical course. The patient underwent a panel-based comprehensive genetic testing and was diagnosed with LPI. As the complications of LPI involve many organs, patients lacking distinctive symptoms may develop various diseases, including RTA/Fanconi syndrome. Our case indicates that proximal and distal tubular damages are notable findings in patients with LPI. The possibility of LPI should be carefully considered in the management of RTA/Fanconi syndrome and/or incomprehensible pathological tubular damage, even in the absence of distinctive symptoms; furthermore, a comprehensive genetic analysis is useful for diagnosing LPI.

11.
Clin Nephrol Case Stud ; 11: 87-94, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37363300

RESUMO

We performed a kidney biopsy in a 36-year-old man to evaluate microscopic hematuria and proteinuria. Light microscopy showed increased mesangial matrix and partial swelling of the glomerular basement membrane (GBM), and immunofluorescence showed positive staining only for C3. Immunoelectron microscopy showed that gold particle-labeled C3 was localized in the electron-dense and moderately electron-dense deposits shown by electron microscopy in the mesangium, the thickened GBM near the paramesangium, and the thickened distal portion of the GBM but was not localized in the non-thickened GBM. Gold-labeled immunoglobulin G, κ, and λ were not seen. C3 glomerulonephritis was more evident in gold-labeled electron microscopy, which further clarified the localization of C3 deposition.

12.
Rheumatol Int ; 32(6): 1625-32, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-21331573

RESUMO

Although rheumatoid arthritis (RA) is an autoimmune disease of unknown etiology, the role of IL-1ß and IL-18 in the pathophysiology of RA has been well established. IL-1ß and IL-18 are generated via cleavage of their pro-forms in the presence of the apoptosis-associated speck-like protein containing a caspase recruit domain (ASC), a known adaptor protein that activates procaspase-1. As such, we investigated the involvement of ASC in the progression of murine collagen-induced arthritis (CIA) and collagen antibody-induced arthritis (CAIA) using ASC-deficient (ASC(-/-)) and wild-type (ASC(+/+)) mice. Analyses were performed by immunohistochemistry for tissues and ELISA for sera. We observed an increase in the expression of ASC, as well as IL-1ß and IL-18, in the joints of CIA DBA mice, which indicated that ASC is involved in disease development. Next, we demonstrated that the infiltration of inflammatory cells and cartilage/bone destruction in CIA knee joints were significantly increased in ASC(+/+) mice compared with ASC(-/-) mice. No such differences were noted in ASC(+/+) and ASC(-/-) CAIA mice. In terms of cytokine expression in knee joints, IL-1ß and IL-18 were depressed in ASC-deficient CIA mice compared with wild-type mice, but were similarly expressed in CAIA joints in both mice groups. Taken together, we can conclude that ASC is involved in the development of CIA and plays a role in the priming phase of the immune response to type II collagen.


Assuntos
Artrite Experimental/imunologia , Artrite Experimental/metabolismo , Colágeno Tipo II/imunologia , Proteínas do Citoesqueleto/metabolismo , Articulação do Joelho/imunologia , Articulação do Joelho/metabolismo , Animais , Anticorpos/sangue , Proteínas Reguladoras de Apoptose , Artrite Experimental/genética , Artrite Experimental/patologia , Proteínas Adaptadoras de Sinalização CARD , Cartilagem/imunologia , Cartilagem/metabolismo , Cartilagem/patologia , Proteínas do Citoesqueleto/deficiência , Proteínas do Citoesqueleto/genética , Progressão da Doença , Ensaio de Imunoadsorção Enzimática , Imuno-Histoquímica , Mediadores da Inflamação/sangue , Interleucina-18/sangue , Interleucina-1beta/sangue , Articulação do Joelho/patologia , Camundongos , Camundongos Endogâmicos DBA , Camundongos Knockout
13.
Intern Med ; 61(6): 871-876, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35296622

RESUMO

A 70-year-old woman with complaints of edema, general malaise, and hypotension was diagnosed with renal amyloidosis, and laser microdissection mass spectrometry revealed her amyloidosis to predominantly comprise the apolipoprotein A-IV type. The M-protein turned from negative to positive during the course, and a bone marrow biopsy showed smoldering myeloma. Treatment with bortezomib and dexamethasone failed to save her from heart failure six months after the onset. Western blotting of urine samples at the time of the renal biopsy showed that amyloid light-chain κ amyloidosis had been present since the onset. Unlike the myeloma, Congo red staining was positive in the plasma cells of the bone marrow.


Assuntos
Amiloidose , Amiloidose de Cadeia Leve de Imunoglobulina , Mieloma Múltiplo , Idoso , Amiloidose/complicações , Amiloidose/diagnóstico , Amiloidose/patologia , Apolipoproteínas A , Feminino , Humanos , Amiloidose de Cadeia Leve de Imunoglobulina/complicações , Amiloidose de Cadeia Leve de Imunoglobulina/diagnóstico , Amiloidose de Cadeia Leve de Imunoglobulina/tratamento farmacológico , Mieloma Múltiplo/diagnóstico
14.
Toxicol Appl Pharmacol ; 252(3): 237-49, 2011 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-21338618

RESUMO

Development of a preventive strategy against tubular damage associated with proteinuria is of great importance. Recently, free fatty acid (FFA) toxicities accompanying proteinuria were found to be a main cause of tubular damage, which was aggravated by insufficiency of peroxisome proliferator-activated receptor alpha (PPARα), suggesting the benefit of PPARα activation. However, an earlier study using a murine acute tubular injury model, FFA-overload nephropathy, demonstrated that high-dose treatment of PPARα agonist (0.5% clofibrate diet) aggravated the tubular damage as a consequence of excess serum accumulation of clofibrate metabolites due to decreased kidney elimination. To induce the renoprotective effects of PPARα agonists without drug accumulation, we tried a pretreatment study using low-dose clofibrate (0.1% clofibrate diet) using the same murine model. Low-dose clofibrate pretreatment prevented acute tubular injuries without accumulation of its metabolites. The tubular protective effects appeared to be associated with the counteraction of PPARα deterioration, resulting in the decrease of FFAs influx to the kidney, maintenance of fatty acid oxidation, diminution of intracellular accumulation of undigested FFAs, and attenuation of disease developmental factors including oxidative stress, apoptosis, and NFκB activation. These effects are common to other fibrates and dependent on PPARα function. Interestingly, however, clofibrate pretreatment also exerted PPARα-independent tubular toxicities in PPARα-null mice with FFA-overload nephropathy. The favorable properties of fibrates are evident when PPARα-dependent tubular protective effects outweigh their PPARα-independent tubular toxicities. This delicate balance seems to be easily affected by the drug dose. It will be important to establish the appropriate dosage of fibrates for treatment against kidney disease and to develop a novel PPARα activator that has a steady serum concentration regardless of kidney dysfunction.


Assuntos
Clofibrato/farmacologia , Ácidos Graxos não Esterificados/antagonistas & inibidores , Ácidos Graxos não Esterificados/toxicidade , Hipolipemiantes/farmacologia , Túbulos Renais/efeitos dos fármacos , PPAR alfa/metabolismo , Proteinúria/metabolismo , Animais , Feminino , Histocitoquímica , Túbulos Renais/metabolismo , Camundongos , PPAR alfa/genética , RNA Mensageiro/química , RNA Mensageiro/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Organismos Livres de Patógenos Específicos
15.
Case Rep Nephrol Dial ; 11(1): 1-9, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33614736

RESUMO

Extramedullary hematopoiesis is widely known to occur in patients with primary myelofibrosis (PMF). Autopsy studies on individuals with PMF revealed that extramedullary hematopoiesis occurred in the kidneys in 35% of the cases, but there is little awareness regarding such lesions. A 63-year-old man was diagnosed with PMF based on a detailed examination of persistent high white blood cells. An examination of the patient's medical records revealed an increased white blood cell count, deterioration of kidney function, and urinary protein excretion developed simultaneously. Thus, a kidney biopsy was performed. Advanced lymphocyte invasion was recognized in the interstitial tissue, and the tubular structure was highly disrupted. Based on these findings, he was diagnosed with interstitial nephritis. However, because of the large number of cells with nuclear atypia in the stroma, additional immunohistochemical staining was also performed, such as glycophorin A, naphthol AS-D, myeloperoxidase, and CD42b. As a result, invasion of three lineages of immature cells, erythroblasts, megakaryocytes, and granulocytes, was identified. Renal dysfunction resulting from interstitial cellular infiltration due to extramedullary hematopoiesis was therefore diagnosed. Treatment with ruxolitinib was initiated after a renal biopsy and the rate of decline in renal function was slightly reduced. Although, in myeloproliferative disorders, proliferative glomerular lesions are widely considered to be renal disorders, there is little awareness regarding interstitial lesions. Extramedullary hematopoiesis of the kidney in PMF is not uncommon, but 40% of cases are reportedly misdiagnosed as interstitial nephritis. Because extramedullary hematopoiesis can be controlled by ruxolitinib, early detection is important.

16.
Intern Med ; 60(6): 911-915, 2021 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-33055489

RESUMO

Collagenofibrotic glomerulopathy or LMX1B-associated nephropathy is a rare disease in which type III collagen accumulates in the glomeruli. We herein report a 64-year-old Japanese woman with an elevated serum creatinine level and persistent proteinuria for 7 years. An electron microscopic study using tannic acid showed curved and frayed collagen fibers within mesangial and subendothelial regions compatible with type III collagen depositions. The distribution of type IV collagen α1-6 chains was normal. Since no pathogenic mutations were identified in the LMX1B gene, she was diagnosed with collagenofibrotic glomerulopathy and treated with angiotensin II receptor blocker and calcium antagonist to control her blood pressure.


Assuntos
Nefropatias , Glomérulos Renais , Colágeno Tipo III , Feminino , Mesângio Glomerular , Humanos , Pessoa de Meia-Idade , Proteinúria
17.
CEN Case Rep ; 10(3): 453-458, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-33675012

RESUMO

We herein report a case of a combined crystalline light chain tubulopathy, podocytopathy, histiocytosis, and cast nephropathy in a patient with monoclonal gammopathy of renal significance (MGRS). A 66-year-old female with impaired renal function was referred to our department. Despite intravenous fluid resuscitation, the kidney function worsened progressively; thus, a kidney biopsy was performed. The kidney biopsy revealed light chain proximal tubulopathy (LCPT) with crystals, light chain crystal podocytopathy (LCCP), crystal-storing histiocytosis (CSH), and light chain cast nephropathy (LCCN). Of note, LCCP and CSH were diagnosed via electron microscopy. Serum and urine immunoelectrophoresis (IEP) revealed the presence of monoclonal Bence-Jones protein and free κ light chains. Bone marrow aspiration showed < 10% plasma cell proliferation. Thus, we had encountered a rare case in which a variety of kidney lesions were combined with MGRS. Most of the LCPT, LCCP, and CSH cases show monoclonal IgG κ, while our case showed Bence-Jones protein κ.


Assuntos
Proteína de Bence Jones/isolamento & purificação , Histiocitose/complicações , Nefropatias/diagnóstico , Idoso , Feminino , Humanos , Cadeias kappa de Imunoglobulina , Nefropatias/etiologia , Túbulos Renais Proximais/patologia , Microscopia Imunoeletrônica , Podócitos/patologia
18.
Ultrastruct Pathol ; 34(4): 199-206, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20594039

RESUMO

Trypsin digestion for 90 min revealed the alpha(5) chain of type IV collagen along the glomerular basement membrane and Bowman's capsule in paraffin-embedded renal sections of controls. In the 9 patients with the ultrastructures suggestive of Alport syndrome (AS), 8 patients were classified as X-linked dominant type due to the lack or mosaic pattern of alpha(5) chain in paraffin sections of renal biopsies by trypsin digestion, and 1 patient was classified as autosomal recessive type due to the lack of alpha(5) chain in the glomerular basement membrane only. Trypsin digestion is useful for the diagnosis of AS in paraffin-embedded renal tissue.


Assuntos
Antígenos/metabolismo , Colágeno Tipo IV/metabolismo , Nefrite Hereditária/diagnóstico , Tripsina/metabolismo , Adolescente , Adulto , Antígenos/química , Biomarcadores/análise , Biomarcadores/metabolismo , Cápsula Glomerular/ultraestrutura , Criança , Pré-Escolar , Cromossomos Humanos X , Colágeno Tipo IV/análise , Feminino , Ligação Genética , Membrana Basal Glomerular/ultraestrutura , Humanos , Rim/química , Rim/metabolismo , Rim/patologia , Masculino , Microscopia Eletrônica de Transmissão , Pessoa de Meia-Idade , Nefrite Hereditária/enzimologia , Nefrite Hereditária/genética , Inclusão em Parafina , Tripsina/química
19.
Case Rep Nephrol ; 2020: 6343521, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32274231

RESUMO

An elderly woman was admitted with the chief complaint of gross hematuria. Laboratory values indicated a high myeloperoxidase-ANCA level. In renal histological examination, 40% of the glomeruli showed crescent formation, but immunofluorescence staining showed positivity for IgG, C3, and C1q. Furthermore, the deposition of fibrils in the glomerulus was noted on electron microscopy, and immunohistochemical staining showed strong positivity for DNA-J heat shock protein family member B9 (DNAJB9). Crescent formation is a common feature of fibrillary glomerulonephritis (FGN). Thus, in ANCA-positive crescentic glomerulonephritis, immunohistochemical assessments for immunoglobulins and DNAJB9, as well as electron microscopy, are important to correctly diagnose FGN.

20.
Virchows Arch ; 477(1): 157-163, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31932919

RESUMO

An 84-year-old woman with a history of haemodialysis for renal failure from approximately 1 year before death. Autopsy revealed numerous spheroid-type amyloid deposits in the kidney that were observed mainly in the interstitium but not the glomeruli and vessels. In addition, intracytoplasmic small globular amyloid deposits in the proximal tubules in addition to amyloid casts were identified. Immunohistochemistry and proteomic analyses indicated these deposits were composed of λ light chains. Amyloid deposition was also found in the lung and heart. λ-type monoclonal protein was detected in her serum and increased numbers of CD138-positive cells with λ-restriction was observed in the bone marrow. The case was diagnosed as amyloid tubulopathy (AT) associated with systemic ALλ amyloidosis related to plasma cell neoplasm. This case indicates that AT is associated with ALλ amyloidosis, which developed systemically with characteristic amyloid deposition forms. These pathological features may be associated with her rapid progressive renal failure.


Assuntos
Amiloide/metabolismo , Amiloidose/patologia , Autopsia , Idoso de 80 Anos ou mais , Amiloidose/diagnóstico , Autopsia/métodos , Feminino , Humanos , Amiloidose de Cadeia Leve de Imunoglobulina/metabolismo , Cadeias lambda de Imunoglobulina/metabolismo , Proteínas do Mieloma/metabolismo , Proteômica
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