BACKGROUND Autosomal dominant tubulointerstitial kidney disease(ADTKD)is a progressive chronic disease that is inherited in an autosomal dominant fashion.Symptoms include hyperuricemia,gout,interstitial nephritis,rena...BACKGROUND Autosomal dominant tubulointerstitial kidney disease(ADTKD)is a progressive chronic disease that is inherited in an autosomal dominant fashion.Symptoms include hyperuricemia,gout,interstitial nephritis,renal cysts,and progressive renal damage that can lead to end-stage renal disease.Mutations in the uromodulin gene(UMOD)characterize the ADTKD-UMOD clinical subtype of this disease.To date,>100 UMOD mutations have been identified.Early diagnosis of ADTKD-UMOD is important to treat the disease,slow down disease progression,and facilitate the identification of potentially affected family members.CASE SUMMARY We report a 40-year-old man harboring a novel heterozygous missense mutation in UMOD(c.554G>T;p.Arg185Leu).The patient had hyperuricemia,gout,and chronic kidney disease.The same mutation was detected in his daughter,aunt and cousin.CONCLUSION A single nucleotide substitution in exon 3 of UMOD was responsible for the heterozygous missense mutation(c.554G>T,p.Arg185Leu).展开更多
Objective： To explore the mechanisms of Chinese herbal medicine Sanqi Oral Liquid , composed of Astragalus membranaceus and Panpax notoginseng, in alleviating renal injury by observing its effect on the expressions o...Objective： To explore the mechanisms of Chinese herbal medicine Sanqi Oral Liquid , composed of Astragalus membranaceus and Panpax notoginseng, in alleviating renal injury by observing its effect on the expressions of CD4＋, CD8＋ and CD68＋ cells in 5/6 nephrectomized rats with chronic renal failure. Methods： A total of 102 SD rats were randomly divided into six groups： three treatment groups were administrated with high, medium and low dosage of Sanqi Oral Liquid respectively by gavage; a normal group, a 5/6 nephrectomized model group, and a group treated with coated aldehyde oxygenstarch were used as controls. Following oral administration of Sanqi Oral Liquid for 12 weeks, the general condition and renal pathological changes were observed, and the renal function, platelet count （PLT） and the expressions of CD4~, CD8＊ and CD68~ cells were determined for each group. Results： There were proliferation of mesangial matrix, renaltubularnecrosis and obvious tubulointerstitial fibrosis in the model group, and they were much milder in the treatment groups. Compared with the model group, the amounts of blood urea nitrogen （BUN）, serum creatinine （Scr） and PLT in the treatment groups decreased （P〈0.05 for all）; and in the group administrated of medium dosage of Sanqi Oral Liquid, the expression of CD4＋ cells was up-regulated and those of CD8＋ and CD68＋ cells were down-regulated （P〈0.05 for all）, leading to an increased ratio of CD4＋/CD8＋ （P〈0.01）. Conclusion： Sanqi Oral Liquid has a significant effect on regulating lymphocyte subsets, reducing the infiltration of macrophages in renal tissues and alleviating tubulointerstitial fibrosis, and this may be one of mechanisms of Sanqi Oral Liquid in delaying the progression of chronic kidney diseases.展开更多
This review will encompass definition, pathogenesis, renal clinical manifestations and treatment of immunoglobulin G4-related diseases( IgG4-RDs). IgG4-RD is a recently recognized clinical entity that often involves ...This review will encompass definition, pathogenesis, renal clinical manifestations and treatment of immunoglobulin G4-related diseases( IgG4-RDs). IgG4-RD is a recently recognized clinical entity that often involves multiple organs and is characterized by high levels of serum immunoglobulins G4, dense infiltration of IgG4+ cells and storiform fibrosis. Cellular immunity, particularly T-cell mediated immunity, has been implicated in the pathogenesis of IgG4-RDs. The most frequent renal manifestations of IgG4-RD are IgG4-related tubulointerstitial nephritis, membranous glomerulopathy and obstructive nephropathy secondary to urinary tract obstruction due to IgG4-related retroperitoneal fibrosis. IgG4-RD diagnosis should be based on specific histopathological findings, confirmed by tissue immunostaining, typical radiological findings and an appropriate clinical context. The first line treatment is the steroids with two warnings: Steroid resistance and relapse after discontinuation. In the case of steroid resistance, B cell depleting agents as rituximab represent the secondline treatment. In the case of relapse after discontinuation, steroid treatment may be associated with steroid sparing agents. Since the disease has been only recently identified, more prospective, long-term studies are needed to an improved understanding and a more correct and safe treatment.展开更多
BACKGROUND Immunoglobulin G4-related disease (IgG4-RD) is an immune-mediated condition that consisted of disorders that share particular clinical,serologic and pathologic properties.The common presentation of disease ...BACKGROUND Immunoglobulin G4-related disease (IgG4-RD) is an immune-mediated condition that consisted of disorders that share particular clinical,serologic and pathologic properties.The common presentation of disease includes tumor-like swelling of involved organs and the histopathological findings are a lymphoplasmacytic infiltrate enriched with IgG4-positive plasma cells,and a variable degree of fibrosis that has a characteristic "storiform" pattern in biopsy specimens of tumorlike masses.Major presentations of this disease,which often affects more than one organ,include autoimmune pancreatitis,salivary gland disease (sialadenitis),orbital disease and retroperitoneal fibrosis.The steroid treatment is essential for the treatment of the disease however,other immunosuppressive drugs including cyclophosphamide or rituximab could be an option in resistant cases.CASE SUMMARY Herein,we reported a 34-year-old woman whom previously had diagnosed with asthma,rheumatoid arthritis and Sj?gren’s syndrome (SS) referred our nephrology department due to acute kidney failure development at the last rheumatology visit.After kidney biopsy she has been diagnosed with IgG4-RD and tubuluointerstitial nephritis.She had been accepted resistant to steroid,mycophenolate mofetil,methotrexate and azathioprine therapies due to receiving in last two years.She refused to receive cyclophosphamide due to potential gonadotoxicity of the drug.Thus,rituximab therapy was considered.She received 1000 mg infusion,15 d apart and 6 mo later it has been administered same protocol.After one year from the last rituximab dose serum creatinine decreased from 4.4 mg/dL to 1.6 mg/dL,erythrocyte sedimentation rate decreased from 109 mm/h to 13 mm/h [reference range (RR) 0-20],and Creactive protein decreased from 55.6 mg/L to 5 mg/L (RR 0–6).All pathologic lymph nodes and masses were also disappeared.CONCLUSION Patients with IgG4-RD usually misdiagnosed with rheumatologic diseases including systemic lupus erythematous or SS and also they were screened for 展开更多
文摘BACKGROUND Autosomal dominant tubulointerstitial kidney disease(ADTKD)is a progressive chronic disease that is inherited in an autosomal dominant fashion.Symptoms include hyperuricemia,gout,interstitial nephritis,renal cysts,and progressive renal damage that can lead to end-stage renal disease.Mutations in the uromodulin gene(UMOD)characterize the ADTKD-UMOD clinical subtype of this disease.To date,>100 UMOD mutations have been identified.Early diagnosis of ADTKD-UMOD is important to treat the disease,slow down disease progression,and facilitate the identification of potentially affected family members.CASE SUMMARY We report a 40-year-old man harboring a novel heterozygous missense mutation in UMOD(c.554G>T;p.Arg185Leu).The patient had hyperuricemia,gout,and chronic kidney disease.The same mutation was detected in his daughter,aunt and cousin.CONCLUSION A single nucleotide substitution in exon 3 of UMOD was responsible for the heterozygous missense mutation(c.554G>T,p.Arg185Leu).
基金The Chinese Journal of Integrated Traditional and Western Medicine Press and Springer-Verlag Berlin Heidelberg 2012 ~Supported by the Plan Program of Guangdong Science and Technology Department （No. 2006B35601010）
文摘Objective： To explore the mechanisms of Chinese herbal medicine Sanqi Oral Liquid , composed of Astragalus membranaceus and Panpax notoginseng, in alleviating renal injury by observing its effect on the expressions of CD4＋, CD8＋ and CD68＋ cells in 5/6 nephrectomized rats with chronic renal failure. Methods： A total of 102 SD rats were randomly divided into six groups： three treatment groups were administrated with high, medium and low dosage of Sanqi Oral Liquid respectively by gavage; a normal group, a 5/6 nephrectomized model group, and a group treated with coated aldehyde oxygenstarch were used as controls. Following oral administration of Sanqi Oral Liquid for 12 weeks, the general condition and renal pathological changes were observed, and the renal function, platelet count （PLT） and the expressions of CD4~, CD8＊ and CD68~ cells were determined for each group. Results： There were proliferation of mesangial matrix, renaltubularnecrosis and obvious tubulointerstitial fibrosis in the model group, and they were much milder in the treatment groups. Compared with the model group, the amounts of blood urea nitrogen （BUN）, serum creatinine （Scr） and PLT in the treatment groups decreased （P〈0.05 for all）; and in the group administrated of medium dosage of Sanqi Oral Liquid, the expression of CD4＋ cells was up-regulated and those of CD8＋ and CD68＋ cells were down-regulated （P〈0.05 for all）, leading to an increased ratio of CD4＋/CD8＋ （P〈0.01）. Conclusion： Sanqi Oral Liquid has a significant effect on regulating lymphocyte subsets, reducing the infiltration of macrophages in renal tissues and alleviating tubulointerstitial fibrosis, and this may be one of mechanisms of Sanqi Oral Liquid in delaying the progression of chronic kidney diseases.
文摘This review will encompass definition, pathogenesis, renal clinical manifestations and treatment of immunoglobulin G4-related diseases( IgG4-RDs). IgG4-RD is a recently recognized clinical entity that often involves multiple organs and is characterized by high levels of serum immunoglobulins G4, dense infiltration of IgG4+ cells and storiform fibrosis. Cellular immunity, particularly T-cell mediated immunity, has been implicated in the pathogenesis of IgG4-RDs. The most frequent renal manifestations of IgG4-RD are IgG4-related tubulointerstitial nephritis, membranous glomerulopathy and obstructive nephropathy secondary to urinary tract obstruction due to IgG4-related retroperitoneal fibrosis. IgG4-RD diagnosis should be based on specific histopathological findings, confirmed by tissue immunostaining, typical radiological findings and an appropriate clinical context. The first line treatment is the steroids with two warnings: Steroid resistance and relapse after discontinuation. In the case of steroid resistance, B cell depleting agents as rituximab represent the secondline treatment. In the case of relapse after discontinuation, steroid treatment may be associated with steroid sparing agents. Since the disease has been only recently identified, more prospective, long-term studies are needed to an improved understanding and a more correct and safe treatment.
文摘BACKGROUND Immunoglobulin G4-related disease (IgG4-RD) is an immune-mediated condition that consisted of disorders that share particular clinical,serologic and pathologic properties.The common presentation of disease includes tumor-like swelling of involved organs and the histopathological findings are a lymphoplasmacytic infiltrate enriched with IgG4-positive plasma cells,and a variable degree of fibrosis that has a characteristic "storiform" pattern in biopsy specimens of tumorlike masses.Major presentations of this disease,which often affects more than one organ,include autoimmune pancreatitis,salivary gland disease (sialadenitis),orbital disease and retroperitoneal fibrosis.The steroid treatment is essential for the treatment of the disease however,other immunosuppressive drugs including cyclophosphamide or rituximab could be an option in resistant cases.CASE SUMMARY Herein,we reported a 34-year-old woman whom previously had diagnosed with asthma,rheumatoid arthritis and Sj?gren’s syndrome (SS) referred our nephrology department due to acute kidney failure development at the last rheumatology visit.After kidney biopsy she has been diagnosed with IgG4-RD and tubuluointerstitial nephritis.She had been accepted resistant to steroid,mycophenolate mofetil,methotrexate and azathioprine therapies due to receiving in last two years.She refused to receive cyclophosphamide due to potential gonadotoxicity of the drug.Thus,rituximab therapy was considered.She received 1000 mg infusion,15 d apart and 6 mo later it has been administered same protocol.After one year from the last rituximab dose serum creatinine decreased from 4.4 mg/dL to 1.6 mg/dL,erythrocyte sedimentation rate decreased from 109 mm/h to 13 mm/h [reference range (RR) 0-20],and Creactive protein decreased from 55.6 mg/L to 5 mg/L (RR 0–6).All pathologic lymph nodes and masses were also disappeared.CONCLUSION Patients with IgG4-RD usually misdiagnosed with rheumatologic diseases including systemic lupus erythematous or SS and also they were screened for
