BACKGROUND Alport syndrome(AS)is an inherited disease of the glomerular basement membrane caused by mutations in genes encodingα3,α4,orα5 chains of type IV collagen.It manifests with hematuria or proteinuria,which ...BACKGROUND Alport syndrome(AS)is an inherited disease of the glomerular basement membrane caused by mutations in genes encodingα3,α4,orα5 chains of type IV collagen.It manifests with hematuria or proteinuria,which is often accompanied by hearing impairments and ocular abnormalities.Histopathologically,AS shows mesangial proliferation and sometimes incidental immunoglobulin A(IgA)deposition.Hematuria or proteinuria is also a common presentation in patients with IgA nephropathy that makes it difficult to differentially diagnose AS and IgA nephropathy solely based on these clinical and pathological features.CASE SUMMARY Herein,we present the case of a 59-year-old female patient who was admitted to our hospital with persistent microscopic hematuria and occasional proteinuria that had lasted for>2 years.This patient had a familial history of renal disease and was diagnosed with autosomal dominant AS(ADAS)and IgA nephropathy based on the findings of renal biopsy as well as genetic testing performed using whole-exome sequencing,which suggested that the patient carried a novel heterozygous variation(c.888G>A:p.Gln296Gln)in the COL4A3 gene that enriches the mutation spectrum of ADAS.The proband received an angiotensin receptor blocker therapy after a definitive diagnosis was established.After one year of therapy,a significant reduction in proteinuria was observed.The number of microscopic red blood cells per high-power field decreased to one-quarter of the baseline levels.Renal function also maintained well during the follow-up.CONCLUSION Our case highlights the significance of performing kidney biopsy and genetic testing in the diagnosis of AS and familial IgA nephropathy.展开更多
BACKGROUND About 70%-80%of patients with primary membranous nephropathy(MN)have phospholipase A2 receptor(PLA2R)in renal tissue.Systemic light-chain(AL)amyloidosis is the most common type of amyloidosis.MN complicated...BACKGROUND About 70%-80%of patients with primary membranous nephropathy(MN)have phospholipase A2 receptor(PLA2R)in renal tissue.Systemic light-chain(AL)amyloidosis is the most common type of amyloidosis.MN complicated with amyloidosis is rare.CASE SUMMARY A 48-year-old Chinese male presented with nephrotic syndrome,positive serum PLA2R antibody,and positive serum and urine IgG-lambda type M-protein,with a normal ratio of serum-free light-chain level.The patient was diagnosed with MN accompanied by AL amyloidosis.He was treated with rituximab with glucocorticoids and CyBorD regimen of chemotherapy.After 21 mo of follow-up,the patient achieved complete remission regarding nephrotic syndrome without adverse effects of chemotherapy.CONCLUSION We report a case of PLA2R-related MN complicated with primary AL amyloidosis only with renal involvement and successfully treated with rituximab,glucocorticoids and chemotherapy.展开更多
BACKGROUND Nephritic syndrome(NiS)is a major indicator of serious renal diseases necessitating kidney biopsies for histopathological evaluations,but due to the lack of comprehensive reviews in the literature,the curre...BACKGROUND Nephritic syndrome(NiS)is a major indicator of serious renal diseases necessitating kidney biopsies for histopathological evaluations,but due to the lack of comprehensive reviews in the literature,the current understanding of the syndrome and its significance is limited.AIM To collect all the evidence retrievable from the literature on the diagnoses made on the renal biopsies performed for NiS as the indication to the procedure.METHODS A literature search was conducted to find studies reporting final diagnoses on renal biopsies in NiS patients.Data were pooled and analyzed with stratifications on age and regions.Meta-analyzes were performed using Stata v.9.RESULTS Overall,26414 NiS patients from the total number of 96738 kidney biopsy diagnoses reported by 47 studies from 23 countries from all continents(except sub-Saharan Africa)were found and analyzed.NiS was the indication for renal biopsy in 21%of the patient populations across the reviewed studies.Immunoglobulin A(IgA)nephropathy was the single most frequent diagnosis in these patients(approximately 38%)followed by lupus nephritis(approximately 8%)and Henoch Schönlein purpura(approximately 7%).IgA nephropathy was the most frequent diagnosis reported for the NiS patients from the East Asia,comprising half of all the cases,and least prevalent in South Asia.Considering the age subgroups,adult(vs pediatric or elderly)patients were by far the most likely age group to be diagnosed with the IgA nephropathy.A myriad of such regional and age disparities have been found and reported.CONCLUSION As the indication for renal biopsy,NiS represents a very distinctive epidemiology of final renal disease diagnoses compared to the other major syndromes.展开更多
Rationale:Genitourinary tuberculosis can develop during the disease course of disseminated disease and the distinctive histological finding is epithelioid granuloma with or without caseation and accompanied Langhans-t...Rationale:Genitourinary tuberculosis can develop during the disease course of disseminated disease and the distinctive histological finding is epithelioid granuloma with or without caseation and accompanied Langhans-type giant cells.Barely,the lesion is only restricted to kidney involving both glomerular and extraglomerular compartment.Association with immune complex-mediated glomerulonephritis has been sparsely reported in the literature.Patient concern:A 42-year-old non-diabetic,non-hypertensive male presented with generalized body swelling and frothing of urine for 3 months.Diagnosis:Membranous nephropathy with tuberculous interstitial nephritis.Intervention:Anti-tuberculous therapy for extrapulmonary tuberculosis was administered along with low dose corticosteroid.Outcomes:Reduction of proteinuria was achieved at one month follow-up visit.Lessons:Tuberculosis should be considered as a potentially treatable cause of secondary membranous nephropathy as pharmacotherapy greatly helps improve the outcome.展开更多
BACKGROUND Minimal change disease is a common cause of nephrotic syndrome(NS) in children and has a good prognosis. Idiopathic membranous nephropathy(IMN), a rare cause of NS in children, may progress to chronic kidne...BACKGROUND Minimal change disease is a common cause of nephrotic syndrome(NS) in children and has a good prognosis. Idiopathic membranous nephropathy(IMN), a rare cause of NS in children, may progress to chronic kidney disease. However, there is little data on how to evaluate and treat IMN in children.CASE SUMMARY In this article, we report the case of a 7-year-old boy with steroid-resistant NS. After cyclophosphamide pulse therapy combined with oral prednisone, the urinary protein results remained positive. Renal biopsy confirmed the pathological diagnosis of stage Ⅱ MN, with positivity for phospholipase A;receptor. Other immunological and infectious diseases relevant to secondary MN were ruled out by laboratory tests. Subsequently, tacrolimus plus prednisone was administered, and the therapeutic effect was satisfactory.CONCLUSION IMN is rare in children. The main clinical manifestation is NS. The diagnosis depends on renal biopsy. There is little evidence-based data on the treatment of IMN in children. Therefore, large-sample randomized controlled trials need to be performed. Individualized treatment should be used to improve the prognosis of the disease.展开更多
基金Supported by The Major Project of Zhejiang Administration of Traditional Chinese Medicine,No.2020ZZ008.
文摘BACKGROUND Alport syndrome(AS)is an inherited disease of the glomerular basement membrane caused by mutations in genes encodingα3,α4,orα5 chains of type IV collagen.It manifests with hematuria or proteinuria,which is often accompanied by hearing impairments and ocular abnormalities.Histopathologically,AS shows mesangial proliferation and sometimes incidental immunoglobulin A(IgA)deposition.Hematuria or proteinuria is also a common presentation in patients with IgA nephropathy that makes it difficult to differentially diagnose AS and IgA nephropathy solely based on these clinical and pathological features.CASE SUMMARY Herein,we present the case of a 59-year-old female patient who was admitted to our hospital with persistent microscopic hematuria and occasional proteinuria that had lasted for>2 years.This patient had a familial history of renal disease and was diagnosed with autosomal dominant AS(ADAS)and IgA nephropathy based on the findings of renal biopsy as well as genetic testing performed using whole-exome sequencing,which suggested that the patient carried a novel heterozygous variation(c.888G>A:p.Gln296Gln)in the COL4A3 gene that enriches the mutation spectrum of ADAS.The proband received an angiotensin receptor blocker therapy after a definitive diagnosis was established.After one year of therapy,a significant reduction in proteinuria was observed.The number of microscopic red blood cells per high-power field decreased to one-quarter of the baseline levels.Renal function also maintained well during the follow-up.CONCLUSION Our case highlights the significance of performing kidney biopsy and genetic testing in the diagnosis of AS and familial IgA nephropathy.
文摘BACKGROUND About 70%-80%of patients with primary membranous nephropathy(MN)have phospholipase A2 receptor(PLA2R)in renal tissue.Systemic light-chain(AL)amyloidosis is the most common type of amyloidosis.MN complicated with amyloidosis is rare.CASE SUMMARY A 48-year-old Chinese male presented with nephrotic syndrome,positive serum PLA2R antibody,and positive serum and urine IgG-lambda type M-protein,with a normal ratio of serum-free light-chain level.The patient was diagnosed with MN accompanied by AL amyloidosis.He was treated with rituximab with glucocorticoids and CyBorD regimen of chemotherapy.After 21 mo of follow-up,the patient achieved complete remission regarding nephrotic syndrome without adverse effects of chemotherapy.CONCLUSION We report a case of PLA2R-related MN complicated with primary AL amyloidosis only with renal involvement and successfully treated with rituximab,glucocorticoids and chemotherapy.
文摘BACKGROUND Nephritic syndrome(NiS)is a major indicator of serious renal diseases necessitating kidney biopsies for histopathological evaluations,but due to the lack of comprehensive reviews in the literature,the current understanding of the syndrome and its significance is limited.AIM To collect all the evidence retrievable from the literature on the diagnoses made on the renal biopsies performed for NiS as the indication to the procedure.METHODS A literature search was conducted to find studies reporting final diagnoses on renal biopsies in NiS patients.Data were pooled and analyzed with stratifications on age and regions.Meta-analyzes were performed using Stata v.9.RESULTS Overall,26414 NiS patients from the total number of 96738 kidney biopsy diagnoses reported by 47 studies from 23 countries from all continents(except sub-Saharan Africa)were found and analyzed.NiS was the indication for renal biopsy in 21%of the patient populations across the reviewed studies.Immunoglobulin A(IgA)nephropathy was the single most frequent diagnosis in these patients(approximately 38%)followed by lupus nephritis(approximately 8%)and Henoch Schönlein purpura(approximately 7%).IgA nephropathy was the most frequent diagnosis reported for the NiS patients from the East Asia,comprising half of all the cases,and least prevalent in South Asia.Considering the age subgroups,adult(vs pediatric or elderly)patients were by far the most likely age group to be diagnosed with the IgA nephropathy.A myriad of such regional and age disparities have been found and reported.CONCLUSION As the indication for renal biopsy,NiS represents a very distinctive epidemiology of final renal disease diagnoses compared to the other major syndromes.
文摘Rationale:Genitourinary tuberculosis can develop during the disease course of disseminated disease and the distinctive histological finding is epithelioid granuloma with or without caseation and accompanied Langhans-type giant cells.Barely,the lesion is only restricted to kidney involving both glomerular and extraglomerular compartment.Association with immune complex-mediated glomerulonephritis has been sparsely reported in the literature.Patient concern:A 42-year-old non-diabetic,non-hypertensive male presented with generalized body swelling and frothing of urine for 3 months.Diagnosis:Membranous nephropathy with tuberculous interstitial nephritis.Intervention:Anti-tuberculous therapy for extrapulmonary tuberculosis was administered along with low dose corticosteroid.Outcomes:Reduction of proteinuria was achieved at one month follow-up visit.Lessons:Tuberculosis should be considered as a potentially treatable cause of secondary membranous nephropathy as pharmacotherapy greatly helps improve the outcome.
文摘BACKGROUND Minimal change disease is a common cause of nephrotic syndrome(NS) in children and has a good prognosis. Idiopathic membranous nephropathy(IMN), a rare cause of NS in children, may progress to chronic kidney disease. However, there is little data on how to evaluate and treat IMN in children.CASE SUMMARY In this article, we report the case of a 7-year-old boy with steroid-resistant NS. After cyclophosphamide pulse therapy combined with oral prednisone, the urinary protein results remained positive. Renal biopsy confirmed the pathological diagnosis of stage Ⅱ MN, with positivity for phospholipase A;receptor. Other immunological and infectious diseases relevant to secondary MN were ruled out by laboratory tests. Subsequently, tacrolimus plus prednisone was administered, and the therapeutic effect was satisfactory.CONCLUSION IMN is rare in children. The main clinical manifestation is NS. The diagnosis depends on renal biopsy. There is little evidence-based data on the treatment of IMN in children. Therefore, large-sample randomized controlled trials need to be performed. Individualized treatment should be used to improve the prognosis of the disease.
