BACKGROUND Due to the lack of published literature about treatment of refractory hepatopulmonary syndrome(HPS)after liver transplant(LT),this case adds information and experience on this issue along with a treatment w...BACKGROUND Due to the lack of published literature about treatment of refractory hepatopulmonary syndrome(HPS)after liver transplant(LT),this case adds information and experience on this issue along with a treatment with positive outcomes.HPS is a complication of end-stage liver disease,with a 10%-30%incidence in cirrhotic patients.LT can reverse the physiopathology of this process and restore normal oxygenation.However,in some cases,refractory hypoxemia persists,and extracorporeal membrane oxygenation(ECMO)can be used as a rescue therapy with good results.CASE SUMMARY A 59-year-old patient with alcohol-related liver cirrhosis and portal hypertension was included in the LT waiting list for HPS.He had good liver function(Model for End-Stage Liver Disease score 12,Child-Pugh class B7).He had pulmonary fibrosis and a mild restrictive respiratory pattern with a basal oxygen saturation of 82%.The macroaggregated albumin test result was>30.Spirometry demonstrated a forced expiratory volume in one second(FEV1)of 78%,forced vital capacity(FVC)of 74%,FEV1/FVC ratio of 81%,diffusion capacity for carbon monoxide of 42%,and carbon monoxide transfer coefficient of 57%.He required domiciliary oxygen at 2 L/min(16 h/d).The patient was admitted to the intensive care unit(ICU)and extubated in the first 24 h,needing high-flow therapy and non-invasive ventilation and inhaled nitric oxide afterwards.Reintubation was needed after 72 h.Due to the non-response to supportive therapies,installation of ECMO was decided with progressive recovery after 9 d.Extubation was possible on the tenth day,maintaining a high-flow nasal cannula and de-escalating to conventional oxygen therapy after 48 h.He was discharged from ICU on postoperative day(POD)20 with a 90%-92%oxygen saturation.Steroid recycling was needed twice for acute rejection.The patient was discharged from hospital on POD 27 with no symptoms,with an 89%-90%oxygen saturation.CONCLUSION Due to the favorable results observed,ECMO could become the central axis of treatment of HPS and refractory hypoxemia after LT.展开更多
Objective:To evaluate the efficacy and safety of Yishen-Huoxue Formula in the treatment of refractory nephrotic syndrome(RNS)using evidence-based medicine.Methods:Databases CNKI,WanFang,VIP,CBM,PubMed,EMbase,and Cochr...Objective:To evaluate the efficacy and safety of Yishen-Huoxue Formula in the treatment of refractory nephrotic syndrome(RNS)using evidence-based medicine.Methods:Databases CNKI,WanFang,VIP,CBM,PubMed,EMbase,and Cochrane Library were searched for randomized controlled trials(RCTs)on the treatment of RNS with the Yishen-Huoxue Formula from June 2008 to July 2020.The quality of the literature was evaluated by the Cochrane.Meta-analysis was performed using Review Manager 5.3 software.Results:A total of 18 articles and 1432 patients were included in this study.The results showed compared to the control group,Yishen-Huoxue Formula was much better in improving total effectiverate[OR=4.15,(95%CI:3.03,5.68),P<0.05],plasma albumin[MD=5.08,(95%CI:3.42,6.74),P<0.05]and decreasing 24-h urine protein quantitation[MD=-0.99,(95%CI:-1.30,-0,69),P<0.05],recurrence rate[OR=0.21,95%CI(0.11,0.40),P<0.05],and adverse reaction rate[OR=0.33,95%CI(0.21,0.52),P<0.05].However,the improvement of complete remission rate was affected by the course of treatment.The effects were similar in less than or equal to nine weeks[OR=1.52,(95%CI:0.74,3.13),P=0.25],whereas the experimental group was superior to the control group in 12-24 weeks[OR=2.47,(95%CI:1.63,3.74),P<0.05]and more than or equal to 26 weeks[OR=2.04,(95%CI:1.43,2.91),P<0.05].Conclusion:The efficacy and safety of Yishen-Huoxue Formula for refractory nephrotic syndrome is better than that of the Western medicine group,but the exact efficacy still needs to be confirmed by prospective studies of higher quality.展开更多
BACKGROUND Gastrinoma is characterized by an excessive release of gastrin,leading to hypersecretion of gastric acid,subsequently resulting in recurrent peptic ulcers,chronic diarrhea,and even esophageal strictures.Thi...BACKGROUND Gastrinoma is characterized by an excessive release of gastrin,leading to hypersecretion of gastric acid,subsequently resulting in recurrent peptic ulcers,chronic diarrhea,and even esophageal strictures.This case report aims to improve awareness and facilitate early diagnosis and treatment of gastrinoma by presenting a rare case of gastrinoma with refractory benign esophageal stricture(RBES).Additionally,it highlights the persistent challenges that gastroenterologists encounter in managing RBES.CASE SUMMARY This case demonstrates a patient with gastrinoma who developed RBES and complete esophageal obstruction despite management with maximal acid suppressive therapy,multiple endoscopic bougie dilations and endoscopic incisional therapy(EIT).CONCLUSION It is essential to diagnose gastrinoma as early as possible,as inadequately controlled acid secretion over an extended period increases the risk of developing severe esophageal strictures.In patients with esophageal strictures causing complete luminal obstruction,blind reopening EIT presents challenges and carries a high risk of perforation.展开更多
Mechanical circulatory and/or respiratory assistance with extracorporeal membrane oxygenation (ECMO) has become a standard of care for patients with circulatory (venoarterial) and/or respiratory (venovenous) failure r...Mechanical circulatory and/or respiratory assistance with extracorporeal membrane oxygenation (ECMO) has become a standard of care for patients with circulatory (venoarterial) and/or respiratory (venovenous) failure refractory to standard therapies. Adult patients with congenital heart disease are an increasingly recognized and growing population and include various groups, such as undiagnosed cases in childhood and palliated and/or corrected cases, which require subsequent care because of residual lesions, cardiac arrest/insufficiency, and arrhythmias, among other conditions. In addition, these patients are prone to developing pathologies that are typical of adulthood with a generally increased risk of morbidity and mortality because of their low reserves and organic damage associated with the underlying heart disease, which makes them candidates for ECMO. These patients represent an additional challenge in this therapy because malformations and the presence of a shunt can generally affect the usual cannulation methods and hemodynamic and oximetry monitoring. Thus, the configuration decision must be made on a case-by-case basis. Here, we present a cannulation method, venopulmonary artery ECMO, which provides hemodynamic and respiratory support, and may be ideal for patients with shunts and/or right ventricular dysfunction. To our knowledge, this is the first report of this configuration in patients with congenital heart diseases.展开更多
A 2-year-old girl was diagnosed as Weill-Marchesani syndrome with typical systemic features of short stature,short and stubby hands and feet,language disorders and mental retardation.He developed bilateral angle closu...A 2-year-old girl was diagnosed as Weill-Marchesani syndrome with typical systemic features of short stature,short and stubby hands and feet,language disorders and mental retardation.He developed bilateral angle closure glaucoma,ectopia lentis and suffered visual loss from the ocular features of Weill-Marchesani syndrome.The child was successfully treated by combined CO_(2) laser-assisted sclerectomy surgery and trabeculectomy.展开更多
Background: Oedema, a constant feature of childhood nephrotic syndrome can be severe, enough to cause respiratory embarrassment. It can also be refractory to diuretic monotherapy. In such cases, combination of salt po...Background: Oedema, a constant feature of childhood nephrotic syndrome can be severe, enough to cause respiratory embarrassment. It can also be refractory to diuretic monotherapy. In such cases, combination of salt poor albumin (SPA) infusion and diuretics has remained the best treatment option. However, the cost of SPA has made it practically unavailable in resource-poor settings. It becomes a therapeutic dilemma when nephrotic syndrome patients of financially-constrained caregivers present with refractory anasarca in a resource-poor settings. Case review: We present a seven-year-old boy with relapsed steroid sensitive nephrotic syndrome who presented to Abia State University Teaching Hospital Aba, in respiratory distress with anasarca and a weight of 58 kilograms. SPA could not be accessed due to financial constraints. A decision to use fresh whole blood in the place of SPA, in combination with frusemide, achieved a lifesaving diuresis and regression of the anasarca. Conclusion: Whole blood is a good alternative for the treatment of refractory oedema in children with nephrotic syndrome in resource poor settings.展开更多
BACKGROUND Immune dysregulation,polyendocrinopthy,enteropathy,X-linked(IPEX)syndrome is a rare X-linked recessive disease caused by mutations in the forkhead box protein 3(FOXP3)gene,which is a master transcriptional ...BACKGROUND Immune dysregulation,polyendocrinopthy,enteropathy,X-linked(IPEX)syndrome is a rare X-linked recessive disease caused by mutations in the forkhead box protein 3(FOXP3)gene,which is a master transcriptional regulator for the development and function of CD4+CD25+regulatory T(Treg)cells.The dysfunction of these cells leads to multiple system autoimmune diseases.We present a case of IPEX due to a mutation not reported in the literature before.CASE SUMMARY We report a male patient with IPEX syndrome who presented with refractory diarrhea and malabsorption leading to failure to thrive,as well as with hypothyroidism and nephrotic syndrome.Laboratory investigation showed increased total IgE and Treg cells,decreased free triiodothyronine(FT3)and free thyroxine(FT4),and proteinuria.Multiple dietary and supportive treatments were introduced but did not improve the diarrhea during his hospital stay.Ultimately,whole exome sequencing revealed that the patient was hemizygous for the exon 5,c.542G>A(p.Ser181Asn)mutation of the FOXP3 gene,which has not been previously reported.The patient remains on prednisone and euthyrox while awaiting hematopoietic stem cell transplantation at the time of the compilation of this case report.CONCLUSION We report a novel FOXP3 gene mutation involved in IPEX.A high level of suspicion should be maintained in an early-onset refractory diarrhea patient.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
BACKGROUND The recognition of idiopathic membranous nephropathy(IMN)as an autoimmune disease has paved the way for the use of B-cell-depleting agents,such as Rituximab(RTX),which is now a first-line drug for treating ...BACKGROUND The recognition of idiopathic membranous nephropathy(IMN)as an autoimmune disease has paved the way for the use of B-cell-depleting agents,such as Rituximab(RTX),which is now a first-line drug for treating IMN with proven safety and efficacy.Nevertheless,the usage of RTX for the treatment of refractory IMN remains controversial and challenging.AIM To evaluate the efficacy and safety of a new low-dose RTX regimen for the treatment of patients with refractory IMN.METHODS A retrospective study was performed on refractory IMN patients that accepted a low-dose RTX regimen(RTX,200 mg,once a month for five months)in the Xiyuan Hospital of Chinese Academy of Chinese Medical Sciences’Department of Nephrology from October 2019 to December 2021.To assess the clinical and immune remission data,we performed a 24 h urinary protein quantification(UTP)test and measured the serum albumin(ALB)and serum creatinine(SCr)levels,phospholipase A2 receptor(PLA2R)antibody titer,and CD19+B-cell count every three months.RESULTS A total of nine refractory IMN patients were analyzed.During follow-up conducted twelve months later,the results from the 24 h UTP decreased from baseline[8.14±6.05 g/d to 1.24±1.34 g/d(P<0.05)]and the ALB levels increased from baseline[28.06±8.42 g/L to 40.93±5.85 g/L(P<0.01)].Notably,after administering RTX for six months,the SCr decreased from 78.13±16.49μmol/L to 109.67±40.87μmol/L(P<0.05).All of the nine patients were positive for serum anti-PLA2R at the beginning,and four patients had normal anti-PLA2R titer levels at six months.The level of CD19+B-cells decreased to 0 at three months,and CD19+B-cell count remained at 0 up until six months of follow-up.CONCLUSION Our low-dose RTX regimen appears to be a promising treatment strategy for refractory IMN.展开更多
In this editorial,we comment on the article by Meng et al published in the World Journal of Clinical Cases.We comprehensively review immunoglobulin A nephro-pathy(IgAN),including epidemiology,clinical presentation,dia...In this editorial,we comment on the article by Meng et al published in the World Journal of Clinical Cases.We comprehensively review immunoglobulin A nephro-pathy(IgAN),including epidemiology,clinical presentation,diagnosis,and management.IgAN,also known as Berger's disease,is the most frequent type of primary glomerulonephritis(GN)globally.It is mostly found among the Asian population.The presentation can be variable,from microscopic hematuria to a rapidly progressive GN.Around 50%of patients present with single or recurring episodes of gross hematuria.An upper respiratory infection and tonsillitis often precede these episodes.Around 30%of patients present microscopic hematuria with or without proteinuria,usually detected on routine examination.The diagnosis relies on having a renal biopsy for pathology and immunofluorescence microscopy.We focus on risk stratification and management of IgAN.We provide a review of all the landmark studies to date.According to the 2021 KDIGO(kidney disease:Improving Global Outcomes)guidelines,patients with non-variant form IgAN are first treated conservatively for three to six months.This approach consists of adequate blood pressure control,reduction of proteinuria with renin-angiotensin system blockade,treatment of dyslipidemia,and lifestyle modifications(weight loss,exercise,smoking cessation,and dietary sodium restrictions).Following three to six months of conservative therapy,patients are further classified as high or low risk for disease progression.High-risk patients have proteinuria≥1 g/d or<1 g/d with significant microscopic hematuria and active inflammation on kidney biopsy.Some experts consider proteinuria≥2 g/d to be very high risk.Patients with high and very high-risk profiles are treated with immunosuppressive therapy.A proteinuria level of<1 g/d and stable/im-proved renal function indicates a good treatment response for patients on immu-nosuppressive therapy.展开更多
BACKGROUND Hepatic sinusoidal obstruction syndrome(HSOS)is a rare complication in solid organ transplant recipients,especially in liver transplantation recipients.However,the consequences of HSOS occurrence are pernic...BACKGROUND Hepatic sinusoidal obstruction syndrome(HSOS)is a rare complication in solid organ transplant recipients,especially in liver transplantation recipients.However,the consequences of HSOS occurrence are pernicious,which could result in severe liver or renal failure,and even death.In addition to previously reported azathioprine and acute rejection,tacrolimus is also considered as one predisposing factor to induce HSOS after liver transplantation,although the underlying mechanism remains unclear.CASE SUMMARY In this study,we reported three cases of tacrolimus-related HSOS after liver transplantation.The diagnosis of HSOS was firstly based on the typical symptoms including ascites,painful hepatomegaly and jaundice.Furthermore,the features of patchy enhancement on portal vein and delayed phase of abdominal enhanced computed tomography were suspected of HSOS and ultimately confirmed by liver biopsy and histological examination in two patients.A significant decrease in ascites and remission of clinical symptoms of abdominal distention and pain were observed after withdrawal of tacrolimus.CONCLUSION Tacrolimus-induced HSOS is a scarce but severe complication after liver transplantation.It lacks specific symptoms and diagnostic criteria.Timely diagnosis of HSOS is based on clinical symptoms,radiological and histological examinations.Discontinuation of tacrolimus is the only effective treatment.Transplantation physicians should be aware of this rare complication potentially induced by tacrolimus.展开更多
Dravet syndrome is a rare epileptic encephalopathy characterized by frequent seizures beginning in the first year of life and behavioral disorders. Mutations in the sodium channel α1 subunit gene are the main cause o...Dravet syndrome is a rare epileptic encephalopathy characterized by frequent seizures beginning in the first year of life and behavioral disorders. Mutations in the sodium channel α1 subunit gene are the main cause of this disease. We report two patients with refractory seizures and psychomotor retardation in whom the final diagnosis was Dravet syndrome with confirmed mutations in the sodium channel α1 subunit gene. The mutation identified in the second patient was a novel frame shift mutation, which resulted from the deletion of five nucleotides in exon 24.展开更多
文摘BACKGROUND Due to the lack of published literature about treatment of refractory hepatopulmonary syndrome(HPS)after liver transplant(LT),this case adds information and experience on this issue along with a treatment with positive outcomes.HPS is a complication of end-stage liver disease,with a 10%-30%incidence in cirrhotic patients.LT can reverse the physiopathology of this process and restore normal oxygenation.However,in some cases,refractory hypoxemia persists,and extracorporeal membrane oxygenation(ECMO)can be used as a rescue therapy with good results.CASE SUMMARY A 59-year-old patient with alcohol-related liver cirrhosis and portal hypertension was included in the LT waiting list for HPS.He had good liver function(Model for End-Stage Liver Disease score 12,Child-Pugh class B7).He had pulmonary fibrosis and a mild restrictive respiratory pattern with a basal oxygen saturation of 82%.The macroaggregated albumin test result was>30.Spirometry demonstrated a forced expiratory volume in one second(FEV1)of 78%,forced vital capacity(FVC)of 74%,FEV1/FVC ratio of 81%,diffusion capacity for carbon monoxide of 42%,and carbon monoxide transfer coefficient of 57%.He required domiciliary oxygen at 2 L/min(16 h/d).The patient was admitted to the intensive care unit(ICU)and extubated in the first 24 h,needing high-flow therapy and non-invasive ventilation and inhaled nitric oxide afterwards.Reintubation was needed after 72 h.Due to the non-response to supportive therapies,installation of ECMO was decided with progressive recovery after 9 d.Extubation was possible on the tenth day,maintaining a high-flow nasal cannula and de-escalating to conventional oxygen therapy after 48 h.He was discharged from ICU on postoperative day(POD)20 with a 90%-92%oxygen saturation.Steroid recycling was needed twice for acute rejection.The patient was discharged from hospital on POD 27 with no symptoms,with an 89%-90%oxygen saturation.CONCLUSION Due to the favorable results observed,ECMO could become the central axis of treatment of HPS and refractory hypoxemia after LT.
基金Shanxi Province Science and Technology Research Project(2016ZD0307)Jinyao Comprehensive Development and Utilization Collaborative Innovation Center Project(2017-JYXT-32)+2 种基金The Key Project of Shanxi Province Key R&D Program(201603D3113023)The Key R&D Program(Guide)Project of Shanxi Province(201703D421024)Graduate Education Innovation Program of Shanxi University of Traditional Chinese Medicine(2020JG001)。
文摘Objective:To evaluate the efficacy and safety of Yishen-Huoxue Formula in the treatment of refractory nephrotic syndrome(RNS)using evidence-based medicine.Methods:Databases CNKI,WanFang,VIP,CBM,PubMed,EMbase,and Cochrane Library were searched for randomized controlled trials(RCTs)on the treatment of RNS with the Yishen-Huoxue Formula from June 2008 to July 2020.The quality of the literature was evaluated by the Cochrane.Meta-analysis was performed using Review Manager 5.3 software.Results:A total of 18 articles and 1432 patients were included in this study.The results showed compared to the control group,Yishen-Huoxue Formula was much better in improving total effectiverate[OR=4.15,(95%CI:3.03,5.68),P<0.05],plasma albumin[MD=5.08,(95%CI:3.42,6.74),P<0.05]and decreasing 24-h urine protein quantitation[MD=-0.99,(95%CI:-1.30,-0,69),P<0.05],recurrence rate[OR=0.21,95%CI(0.11,0.40),P<0.05],and adverse reaction rate[OR=0.33,95%CI(0.21,0.52),P<0.05].However,the improvement of complete remission rate was affected by the course of treatment.The effects were similar in less than or equal to nine weeks[OR=1.52,(95%CI:0.74,3.13),P=0.25],whereas the experimental group was superior to the control group in 12-24 weeks[OR=2.47,(95%CI:1.63,3.74),P<0.05]and more than or equal to 26 weeks[OR=2.04,(95%CI:1.43,2.91),P<0.05].Conclusion:The efficacy and safety of Yishen-Huoxue Formula for refractory nephrotic syndrome is better than that of the Western medicine group,but the exact efficacy still needs to be confirmed by prospective studies of higher quality.
文摘BACKGROUND Gastrinoma is characterized by an excessive release of gastrin,leading to hypersecretion of gastric acid,subsequently resulting in recurrent peptic ulcers,chronic diarrhea,and even esophageal strictures.This case report aims to improve awareness and facilitate early diagnosis and treatment of gastrinoma by presenting a rare case of gastrinoma with refractory benign esophageal stricture(RBES).Additionally,it highlights the persistent challenges that gastroenterologists encounter in managing RBES.CASE SUMMARY This case demonstrates a patient with gastrinoma who developed RBES and complete esophageal obstruction despite management with maximal acid suppressive therapy,multiple endoscopic bougie dilations and endoscopic incisional therapy(EIT).CONCLUSION It is essential to diagnose gastrinoma as early as possible,as inadequately controlled acid secretion over an extended period increases the risk of developing severe esophageal strictures.In patients with esophageal strictures causing complete luminal obstruction,blind reopening EIT presents challenges and carries a high risk of perforation.
文摘Mechanical circulatory and/or respiratory assistance with extracorporeal membrane oxygenation (ECMO) has become a standard of care for patients with circulatory (venoarterial) and/or respiratory (venovenous) failure refractory to standard therapies. Adult patients with congenital heart disease are an increasingly recognized and growing population and include various groups, such as undiagnosed cases in childhood and palliated and/or corrected cases, which require subsequent care because of residual lesions, cardiac arrest/insufficiency, and arrhythmias, among other conditions. In addition, these patients are prone to developing pathologies that are typical of adulthood with a generally increased risk of morbidity and mortality because of their low reserves and organic damage associated with the underlying heart disease, which makes them candidates for ECMO. These patients represent an additional challenge in this therapy because malformations and the presence of a shunt can generally affect the usual cannulation methods and hemodynamic and oximetry monitoring. Thus, the configuration decision must be made on a case-by-case basis. Here, we present a cannulation method, venopulmonary artery ECMO, which provides hemodynamic and respiratory support, and may be ideal for patients with shunts and/or right ventricular dysfunction. To our knowledge, this is the first report of this configuration in patients with congenital heart diseases.
文摘A 2-year-old girl was diagnosed as Weill-Marchesani syndrome with typical systemic features of short stature,short and stubby hands and feet,language disorders and mental retardation.He developed bilateral angle closure glaucoma,ectopia lentis and suffered visual loss from the ocular features of Weill-Marchesani syndrome.The child was successfully treated by combined CO_(2) laser-assisted sclerectomy surgery and trabeculectomy.
文摘Background: Oedema, a constant feature of childhood nephrotic syndrome can be severe, enough to cause respiratory embarrassment. It can also be refractory to diuretic monotherapy. In such cases, combination of salt poor albumin (SPA) infusion and diuretics has remained the best treatment option. However, the cost of SPA has made it practically unavailable in resource-poor settings. It becomes a therapeutic dilemma when nephrotic syndrome patients of financially-constrained caregivers present with refractory anasarca in a resource-poor settings. Case review: We present a seven-year-old boy with relapsed steroid sensitive nephrotic syndrome who presented to Abia State University Teaching Hospital Aba, in respiratory distress with anasarca and a weight of 58 kilograms. SPA could not be accessed due to financial constraints. A decision to use fresh whole blood in the place of SPA, in combination with frusemide, achieved a lifesaving diuresis and regression of the anasarca. Conclusion: Whole blood is a good alternative for the treatment of refractory oedema in children with nephrotic syndrome in resource poor settings.
文摘BACKGROUND Immune dysregulation,polyendocrinopthy,enteropathy,X-linked(IPEX)syndrome is a rare X-linked recessive disease caused by mutations in the forkhead box protein 3(FOXP3)gene,which is a master transcriptional regulator for the development and function of CD4+CD25+regulatory T(Treg)cells.The dysfunction of these cells leads to multiple system autoimmune diseases.We present a case of IPEX due to a mutation not reported in the literature before.CASE SUMMARY We report a male patient with IPEX syndrome who presented with refractory diarrhea and malabsorption leading to failure to thrive,as well as with hypothyroidism and nephrotic syndrome.Laboratory investigation showed increased total IgE and Treg cells,decreased free triiodothyronine(FT3)and free thyroxine(FT4),and proteinuria.Multiple dietary and supportive treatments were introduced but did not improve the diarrhea during his hospital stay.Ultimately,whole exome sequencing revealed that the patient was hemizygous for the exon 5,c.542G>A(p.Ser181Asn)mutation of the FOXP3 gene,which has not been previously reported.The patient remains on prednisone and euthyrox while awaiting hematopoietic stem cell transplantation at the time of the compilation of this case report.CONCLUSION We report a novel FOXP3 gene mutation involved in IPEX.A high level of suspicion should be maintained in an early-onset refractory diarrhea patient.
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.
基金Supported by National Key Research and Development Program of China,No.2019YFC1708503。
文摘BACKGROUND The recognition of idiopathic membranous nephropathy(IMN)as an autoimmune disease has paved the way for the use of B-cell-depleting agents,such as Rituximab(RTX),which is now a first-line drug for treating IMN with proven safety and efficacy.Nevertheless,the usage of RTX for the treatment of refractory IMN remains controversial and challenging.AIM To evaluate the efficacy and safety of a new low-dose RTX regimen for the treatment of patients with refractory IMN.METHODS A retrospective study was performed on refractory IMN patients that accepted a low-dose RTX regimen(RTX,200 mg,once a month for five months)in the Xiyuan Hospital of Chinese Academy of Chinese Medical Sciences’Department of Nephrology from October 2019 to December 2021.To assess the clinical and immune remission data,we performed a 24 h urinary protein quantification(UTP)test and measured the serum albumin(ALB)and serum creatinine(SCr)levels,phospholipase A2 receptor(PLA2R)antibody titer,and CD19+B-cell count every three months.RESULTS A total of nine refractory IMN patients were analyzed.During follow-up conducted twelve months later,the results from the 24 h UTP decreased from baseline[8.14±6.05 g/d to 1.24±1.34 g/d(P<0.05)]and the ALB levels increased from baseline[28.06±8.42 g/L to 40.93±5.85 g/L(P<0.01)].Notably,after administering RTX for six months,the SCr decreased from 78.13±16.49μmol/L to 109.67±40.87μmol/L(P<0.05).All of the nine patients were positive for serum anti-PLA2R at the beginning,and four patients had normal anti-PLA2R titer levels at six months.The level of CD19+B-cells decreased to 0 at three months,and CD19+B-cell count remained at 0 up until six months of follow-up.CONCLUSION Our low-dose RTX regimen appears to be a promising treatment strategy for refractory IMN.
文摘In this editorial,we comment on the article by Meng et al published in the World Journal of Clinical Cases.We comprehensively review immunoglobulin A nephro-pathy(IgAN),including epidemiology,clinical presentation,diagnosis,and management.IgAN,also known as Berger's disease,is the most frequent type of primary glomerulonephritis(GN)globally.It is mostly found among the Asian population.The presentation can be variable,from microscopic hematuria to a rapidly progressive GN.Around 50%of patients present with single or recurring episodes of gross hematuria.An upper respiratory infection and tonsillitis often precede these episodes.Around 30%of patients present microscopic hematuria with or without proteinuria,usually detected on routine examination.The diagnosis relies on having a renal biopsy for pathology and immunofluorescence microscopy.We focus on risk stratification and management of IgAN.We provide a review of all the landmark studies to date.According to the 2021 KDIGO(kidney disease:Improving Global Outcomes)guidelines,patients with non-variant form IgAN are first treated conservatively for three to six months.This approach consists of adequate blood pressure control,reduction of proteinuria with renin-angiotensin system blockade,treatment of dyslipidemia,and lifestyle modifications(weight loss,exercise,smoking cessation,and dietary sodium restrictions).Following three to six months of conservative therapy,patients are further classified as high or low risk for disease progression.High-risk patients have proteinuria≥1 g/d or<1 g/d with significant microscopic hematuria and active inflammation on kidney biopsy.Some experts consider proteinuria≥2 g/d to be very high risk.Patients with high and very high-risk profiles are treated with immunosuppressive therapy.A proteinuria level of<1 g/d and stable/im-proved renal function indicates a good treatment response for patients on immu-nosuppressive therapy.
基金Supported by Surface Project of National Natural Science Foundation of China,No.81972760The Joint Project of Chongqing Health Commission and Science and Technology Bureau,No.2022QNXM020Doctoral Through Train Scientific Research Project of Chongqing,No.CSTB2022BSXM-JCX0004。
文摘BACKGROUND Hepatic sinusoidal obstruction syndrome(HSOS)is a rare complication in solid organ transplant recipients,especially in liver transplantation recipients.However,the consequences of HSOS occurrence are pernicious,which could result in severe liver or renal failure,and even death.In addition to previously reported azathioprine and acute rejection,tacrolimus is also considered as one predisposing factor to induce HSOS after liver transplantation,although the underlying mechanism remains unclear.CASE SUMMARY In this study,we reported three cases of tacrolimus-related HSOS after liver transplantation.The diagnosis of HSOS was firstly based on the typical symptoms including ascites,painful hepatomegaly and jaundice.Furthermore,the features of patchy enhancement on portal vein and delayed phase of abdominal enhanced computed tomography were suspected of HSOS and ultimately confirmed by liver biopsy and histological examination in two patients.A significant decrease in ascites and remission of clinical symptoms of abdominal distention and pain were observed after withdrawal of tacrolimus.CONCLUSION Tacrolimus-induced HSOS is a scarce but severe complication after liver transplantation.It lacks specific symptoms and diagnostic criteria.Timely diagnosis of HSOS is based on clinical symptoms,radiological and histological examinations.Discontinuation of tacrolimus is the only effective treatment.Transplantation physicians should be aware of this rare complication potentially induced by tacrolimus.
文摘Dravet syndrome is a rare epileptic encephalopathy characterized by frequent seizures beginning in the first year of life and behavioral disorders. Mutations in the sodium channel α1 subunit gene are the main cause of this disease. We report two patients with refractory seizures and psychomotor retardation in whom the final diagnosis was Dravet syndrome with confirmed mutations in the sodium channel α1 subunit gene. The mutation identified in the second patient was a novel frame shift mutation, which resulted from the deletion of five nucleotides in exon 24.
