Chronic granulomatous disease(CGD) is a primary immune deficiency that is commonly diagnosed under the age of 5 years(95%) and is rarely seen in adulthood. CGD may manifest as inflammatory bowel disease(IBD) in childh...Chronic granulomatous disease(CGD) is a primary immune deficiency that is commonly diagnosed under the age of 5 years(95%) and is rarely seen in adulthood. CGD may manifest as inflammatory bowel disease(IBD) in childhood. Without proper diagnosis, these patients may be monitored for years as IBD; some may even be regarded as steroid-resistant ulcerative colitis(UC) and end up having a colectomy. In this case report, we described a patient who had been followedup for years as UC and subsequently underwent colectomy, but was finally diagnosed in adulthood as primary immune deficiency.展开更多
BACKGROUND Chronic granulomatous disease(CGD)characterized by recurrent and severe bacterial and fungal infections is most common in childhood.CASE SUMMARY We reported a 24-d-old male infant who developed gastrointest...BACKGROUND Chronic granulomatous disease(CGD)characterized by recurrent and severe bacterial and fungal infections is most common in childhood.CASE SUMMARY We reported a 24-d-old male infant who developed gastrointestinal symptoms as the first sign of CGD.CONCLUSION Gastrointestinal symptoms representing the first sign of CGD are very rare,and prompt diagnosis and treatment with broad-spectrum antibiotics were of crucial importance.展开更多
Objective:To investigate granulomatous inflammation etiology based on clinical history and ancillary tests.Methods:Children aged<18 years with biopsy proven granulomatous lesions in any tissue specimens between Jan...Objective:To investigate granulomatous inflammation etiology based on clinical history and ancillary tests.Methods:Children aged<18 years with biopsy proven granulomatous lesions in any tissue specimens between January 2014 and January 2022 were included in the study.The diagnosis was based on the results of immunohistochemical staining,molecular tests,culture,serology,radiological and other auxiliary laboratory tests.Diagnoses were categorized into infectious and noninfectious causes.Results:In total,174 patients with granulomatosis inflammation confirmed by histopathology were analyzed.Approximately 59.2%patients were males,and the median age was 4.48(IQR 2.36-6.39)years(range:16 months-18 years).The tissues/organs that were most commonly biopsied were lymph node,bone,skin,and lung(51.1%,17.8%,9.2%,and 5.7%,respectively).Infectious and non-infectious causes were identified in 73.0%and 12.6%patients,respectively,in terms of granulomatosis inflammation etiology;however,no cause was identified in 14.4%patients.The most common infectious cause was tuberculosis(in 51.7%patients),followed by toxoplasmosis,aspergillosis,mucormycosis,leishmaniasis,and cat-scratch disease(in 8.6%,5.7%,1.7%,1.7%,and 1.1%patients,respectively).The common non-infectious cause was chronic granulomatous disease.Histopathological evaluation revealed granulomatosis inflammation in 33.3%patients,necrotizing granulomatosis inflammation in 30.5%patients,and caseating granulomatosis inflammation in 12.1%patients.When the pathology results of patients with and without tuberculosis were compared,the incidence of caseating granulomatosis inflammation(P=0.003)and necrotizing granulomatosis inflammation(P=0.005)was higher in patients with tuberculosis.Conclusions:Chronic granulomatous disease is the most common non-infectious cause in children.Moreover,primary or secondary immune deficiencies may cause granulomatosis inflammation,especially in pediatric patients.展开更多
Chronic granulomatous disease(CGD)is an inherited defect of phagocyte function due to defective NADPH oxidase.Patients with CGD are not able to effectively clear the infections because of the defect in the phagocyte p...Chronic granulomatous disease(CGD)is an inherited defect of phagocyte function due to defective NADPH oxidase.Patients with CGD are not able to effectively clear the infections because of the defect in the phagocyte production of oxygen free radicals and are prone to recurrent bacterial and fungal infections.Inflammatory complications are also noted in CGD such as colitis,non-infective granulomas causing gastrointestinal or urinary tract obstruction,hemophagocytic lymphohistiocytosis,and arthritis.Studies on toll-like receptor pathways and neutrophil extracellular traps in CGD have shed light on the role of NADPH oxidase in the innate immunity and pathogenesis of infections in CGD.Some reports also indicate a reduction of memory B cells and defective production of functional antibodies in CGD.Though the exact mechanisms for non-infective inflammatory complications in CGD are not yet clear,studies on efferocytosis and defective autophagy with inflammasome activation have made a substantial contribution to our understanding of the pathogenesis of inflammation in CGD.We also discuss the clinical and molecular features of p40phox defects and a newer genetic defect,EROS.Clinical phenotypes of X-linked carriers of CYBB are also discussed.展开更多
目的分析嗜酸性肉芽肿性血管炎(eosinophilic granulomatosis with polyangiitis,EGPA)患者肾受累的临床特点。方法分析2005年5月至2021年12月首都医科大学附属北京朝阳医院收治的确诊EGPA患者的临床资料,分析EGPA患者肾受累的临床特点...目的分析嗜酸性肉芽肿性血管炎(eosinophilic granulomatosis with polyangiitis,EGPA)患者肾受累的临床特点。方法分析2005年5月至2021年12月首都医科大学附属北京朝阳医院收治的确诊EGPA患者的临床资料,分析EGPA患者肾受累的临床特点,通过慢性肾病组和对照组之间的差异分析,发现EGPA合并肾受累的危险因素。结果104例EGPA患者中,男性55例,女性49例,确诊时中位年龄56(46,65)岁。最常见的临床症状是哮喘,共99例(95.2%)。82例(78.8%)患者伴有嗜酸性粒细胞增多超过10%。20例(19.2%)患者抗中性粒细胞胞质抗体(antineutrophil cytoplasmic antibody,ANCA)阳性。肾受累患者共59例(56.7%),其中镜下血尿30例(28.8%),蛋白尿11例(10.6%),肾小球滤过率(estimated Glomerular Filtration Rate,eGFR)下降[eGFR<80 mL/(min·1.73 m 2)]38例(36.5%),慢性肾病[eGFR<60 mL/(min·1.73 m 2)]11例(10.6%)。ANCA阳性组患者中的肾损伤发生率明显高于ANCA阴性组。伴有慢性肾病的EGPA患者中血红蛋白浓度有显著下降(U=212.50,P=0.002),心脏受累发生率显著增加(χ^(2)=5.610,P=0.018)。多因素分析提示,高龄及ANCA阳性是EGPA肾受累的独立危险因素。随访中位时间41(19,59)个月,6例患者死亡,其中3例伴有肾受累。结论EGPA患者中肾受累主要表现为镜下血尿、蛋白尿和轻度肌酐清除率下降。慢性肾病患者同时伴有贫血和心脏受累的发生率增高。高龄及ANCA阳性是肾损害的独立危险因素。展开更多
文摘Chronic granulomatous disease(CGD) is a primary immune deficiency that is commonly diagnosed under the age of 5 years(95%) and is rarely seen in adulthood. CGD may manifest as inflammatory bowel disease(IBD) in childhood. Without proper diagnosis, these patients may be monitored for years as IBD; some may even be regarded as steroid-resistant ulcerative colitis(UC) and end up having a colectomy. In this case report, we described a patient who had been followedup for years as UC and subsequently underwent colectomy, but was finally diagnosed in adulthood as primary immune deficiency.
文摘BACKGROUND Chronic granulomatous disease(CGD)characterized by recurrent and severe bacterial and fungal infections is most common in childhood.CASE SUMMARY We reported a 24-d-old male infant who developed gastrointestinal symptoms as the first sign of CGD.CONCLUSION Gastrointestinal symptoms representing the first sign of CGD are very rare,and prompt diagnosis and treatment with broad-spectrum antibiotics were of crucial importance.
文摘Objective:To investigate granulomatous inflammation etiology based on clinical history and ancillary tests.Methods:Children aged<18 years with biopsy proven granulomatous lesions in any tissue specimens between January 2014 and January 2022 were included in the study.The diagnosis was based on the results of immunohistochemical staining,molecular tests,culture,serology,radiological and other auxiliary laboratory tests.Diagnoses were categorized into infectious and noninfectious causes.Results:In total,174 patients with granulomatosis inflammation confirmed by histopathology were analyzed.Approximately 59.2%patients were males,and the median age was 4.48(IQR 2.36-6.39)years(range:16 months-18 years).The tissues/organs that were most commonly biopsied were lymph node,bone,skin,and lung(51.1%,17.8%,9.2%,and 5.7%,respectively).Infectious and non-infectious causes were identified in 73.0%and 12.6%patients,respectively,in terms of granulomatosis inflammation etiology;however,no cause was identified in 14.4%patients.The most common infectious cause was tuberculosis(in 51.7%patients),followed by toxoplasmosis,aspergillosis,mucormycosis,leishmaniasis,and cat-scratch disease(in 8.6%,5.7%,1.7%,1.7%,and 1.1%patients,respectively).The common non-infectious cause was chronic granulomatous disease.Histopathological evaluation revealed granulomatosis inflammation in 33.3%patients,necrotizing granulomatosis inflammation in 30.5%patients,and caseating granulomatosis inflammation in 12.1%patients.When the pathology results of patients with and without tuberculosis were compared,the incidence of caseating granulomatosis inflammation(P=0.003)and necrotizing granulomatosis inflammation(P=0.005)was higher in patients with tuberculosis.Conclusions:Chronic granulomatous disease is the most common non-infectious cause in children.Moreover,primary or secondary immune deficiencies may cause granulomatosis inflammation,especially in pediatric patients.
文摘Chronic granulomatous disease(CGD)is an inherited defect of phagocyte function due to defective NADPH oxidase.Patients with CGD are not able to effectively clear the infections because of the defect in the phagocyte production of oxygen free radicals and are prone to recurrent bacterial and fungal infections.Inflammatory complications are also noted in CGD such as colitis,non-infective granulomas causing gastrointestinal or urinary tract obstruction,hemophagocytic lymphohistiocytosis,and arthritis.Studies on toll-like receptor pathways and neutrophil extracellular traps in CGD have shed light on the role of NADPH oxidase in the innate immunity and pathogenesis of infections in CGD.Some reports also indicate a reduction of memory B cells and defective production of functional antibodies in CGD.Though the exact mechanisms for non-infective inflammatory complications in CGD are not yet clear,studies on efferocytosis and defective autophagy with inflammasome activation have made a substantial contribution to our understanding of the pathogenesis of inflammation in CGD.We also discuss the clinical and molecular features of p40phox defects and a newer genetic defect,EROS.Clinical phenotypes of X-linked carriers of CYBB are also discussed.
文摘目的分析嗜酸性肉芽肿性血管炎(eosinophilic granulomatosis with polyangiitis,EGPA)患者肾受累的临床特点。方法分析2005年5月至2021年12月首都医科大学附属北京朝阳医院收治的确诊EGPA患者的临床资料,分析EGPA患者肾受累的临床特点,通过慢性肾病组和对照组之间的差异分析,发现EGPA合并肾受累的危险因素。结果104例EGPA患者中,男性55例,女性49例,确诊时中位年龄56(46,65)岁。最常见的临床症状是哮喘,共99例(95.2%)。82例(78.8%)患者伴有嗜酸性粒细胞增多超过10%。20例(19.2%)患者抗中性粒细胞胞质抗体(antineutrophil cytoplasmic antibody,ANCA)阳性。肾受累患者共59例(56.7%),其中镜下血尿30例(28.8%),蛋白尿11例(10.6%),肾小球滤过率(estimated Glomerular Filtration Rate,eGFR)下降[eGFR<80 mL/(min·1.73 m 2)]38例(36.5%),慢性肾病[eGFR<60 mL/(min·1.73 m 2)]11例(10.6%)。ANCA阳性组患者中的肾损伤发生率明显高于ANCA阴性组。伴有慢性肾病的EGPA患者中血红蛋白浓度有显著下降(U=212.50,P=0.002),心脏受累发生率显著增加(χ^(2)=5.610,P=0.018)。多因素分析提示,高龄及ANCA阳性是EGPA肾受累的独立危险因素。随访中位时间41(19,59)个月,6例患者死亡,其中3例伴有肾受累。结论EGPA患者中肾受累主要表现为镜下血尿、蛋白尿和轻度肌酐清除率下降。慢性肾病患者同时伴有贫血和心脏受累的发生率增高。高龄及ANCA阳性是肾损害的独立危险因素。
