CAJ | 학술논문

目的探讨48例慢性肉芽肿病(CGD)临床特点.方法对于2004年1月至2011年6月在复旦大学附属儿科医院诊断的48例CGD患儿临床表现、实验室检查、治疗及预后进行总结分析.结果通过二氢若丹明分析以明确诊断.48例CGD,男43例,女5例.皆在出生后6个月以内起病；平均诊断年龄2.42岁(1个月～10岁),其中0～6个月12例,～12个月10例,～2岁9例,～3岁5例,～5岁4例,～10岁8例；CGD临床主要累及呼吸系统及消化系统,表现为反复呼吸道感染91.67％ (44/48)及反复慢性腹泻64.58％ (31/48)；其他伴有皮肤损害表现者45.83％ (22/48)；尿路感染6.25％(3/48).另有64.58％ (31/48)患儿病程中出现淋巴结肿大,其中19例考虑与卡介苗接种相关.感染病原方面主要包括分枝杆菌感染52.08％ (25/48),真菌感染43.75％ (21/48).明确基因诊断者37例(其中CYBB 31例、CYBA1例、NCF12例、NCF23例).预防和治疗主要采用人重组γ-干扰素联合磺胺甲基异(恶)唑以及针对性抗感染治疗,细菌和真菌感染频率及严重程度有所减轻.结论本组患儿发病年龄及诊断较早,临床表现为反复分枝杆菌、真菌及化脓菌感染,主要累及呼吸道、消化道、皮肤及淋巴结.人重组y-干扰素治疗和预防可部分改善预后.
목적 탐토48례만성육아종병(CGD)림상특점.방법 대우2004년1월지2011년6월재복단대학부속인과의원진단적48례CGD환인림상표현、실험실검사、치료급예후진행총결분석.결과 통과이경약단명분석이명학진단.48례CGD,남43례,녀5례.개재출생후6개월이내기병；평균진단년령2.42세(1개월～10세),기중0～6개월12례,～12개월10례,～2세9례,～3세5례,～5세4례,～10세8례；CGD림상주요루급호흡계통급소화계통,표현위반복호흡도감염91.67％ (44/48)급반복만성복사64.58％ (31/48)；기타반유피부손해표현자45.83％ (22/48)；뇨로감염6.25％(3/48).령유64.58％ (31/48)환인병정중출현림파결종대,기중19례고필여잡개묘접충상관.감염병원방면주요포괄분지간균감염52.08％ (25/48),진균감염43.75％ (21/48).명학기인진단자37례(기중CYBB 31례、CYBA1례、NCF12례、NCF23례).예방화치료주요채용인중조γ-간우소연합광알갑기이(악)서이급침대성항감염치료,세균화진균감염빈솔급엄중정도유소감경.결론 본조환인발병년령급진단교조,림상표현위반복분지간균、진균급화농균감염,주요루급호흡도、소화도、피부급림파결.인중조y-간우소치료화예방가부분개선예후.
Objective Chronic granulomatous disease (CGD) is a rare primary immunodeficiency of phagocytic oxidative bursts leading to recurrent severe bacterial and fungal infections as well as granuloma formation.There were few reports on the clinical characteristics of this disease in China.The purpose of this study was to evaluate the clinical features of 48 Chinese cases with CGD which were confirmed by clinical features,dihydrorhodamine (DHR) assay and gene mutation analysis.Method The study cohort was the population of CGD patients diagnosed in Children' s Hospital of Fudan University from January,2004,to June,2011.Cases included in our analysis were restricted to those who had complete data of the clinical symptoms and laboratory tests. The patients were followed up by outpatient visiting and telephone call regularly for 0.5 to 6 years.The history and data of physical examination and treatment of 48 cases were collected and reviewed.Result All the patients were diagnosed by DHR analysis.The age of onset of all the48 patients were less than 6 months,including 43 male and 5 female.The mean age at diagnosis was 2.42 years; 12 patients were infants under six months,10 were between 6 and 12 months,9 were between 1 and 2 years,5 patients were between 2 and 3 years,4 were between 4 and 5 years,and 8 were between 6 and 10 years. Recurrent respiratory infection (44/48) and chronic diarrhea ( 31/48 ) were the common symptoms in all the patients,and then skin lesion (22/48),including marked reaction at BCG infected site,pustular eruption and infected skin ulcer and urinary tract infection( 3/48 )were also general symptoms in our study.In addition,lymphadenectasis occurred in 31 cases and 23 of them were considered to be associaled with BCG vaccination.The pathogens caused the infection were mycobacteria ( 52.08％ ),fungi (43.75％) and pyogenic bacteria.Thirty-seven patients had mutations in CYBB/CYBA/NCF1/NCF2genes.Recombinant human interferon-gamma (rhlFN-γ) plus sulfamethoxazole were used for the prevention and treatment of infection,the frequency and severity of the disease could be reduced.Conclusion The age at onset and diagnosis of the present group of CGD was younger.Clinical symptoms were associated with recurrent mycobacterial,fungal and pyogenic bacterial infection,which involved respiratory tract,alimentary tract,skin and lymph node.rhlFN-γ partially improved the prognosis of CGD.