Objective: To explore the early clinical clues for diagnosis of chronic granulomatous disease (CGD). Methods: One hundred and thirty-nine children with CGD seen in Beijing Children's Hospital from January 2007 to October 2020 were included in this study. The clinical features including age of onset, first presentations, reason for being hospitalized, etiology, imaging features, clues for early diagnosis of all patients were evaluated retrospectively. According to the time of diagnosis, the patients were divided into two groups, cases diagnosed before 2015 and after 2015 and 2015. The time of diagnosis, the length of stay and the hospital charges were compared between the two groups. T test and χ2 test were used for statistical analyses. Results: One hundred and nineteen of the cases were males and 20 were females. The age of onset was 4 months (8 d to 14 years), and 103 cases (74.1%) had onset before 1 year of age. The age at diagnosis was 1.8 years (21 d to 14.7 years), and the time of diagnosis delay was 1 year (7 d to 13.7 years). One hundred and thirty-five cases (97.1%) had pulmonary infection as the main reason for hospitalization, of whom 76 cases (56.3%) had positive pulmonary etiology. One hundred and thirty-six patients (97.8%) were referred cases, of whom 5 were suspected of CGD before referral, and the misdiagnosis rate was as high as 96.3% (131/136). Eight early clues for diagnosis were found, the frequency from high to low, large bacillus Callmette-Guer scar in 99 cases (70.5%), left axillary lymphadenopathy or calcification in 73 cases (52.5%), skin or other lymph node infections in 58 cases (41.7%), skin scars in 50 cases (36.0%), multiple lung nodules in 42 cases (30.2%), perianal abscess in 35 cases (25.2%), pulmonary Aspergillus infection in 26 cases (18.7%) and pulmonary Burkholderia infection in 15 cases (10.8%). A total of 120 cases of CGD were diagnosed by respiratory burst test during hospitalization, including 55 cases diagnosed before 2015 and 65 cases diagnosed after 2015. After using these 8 early diagnosis clues, the cases diagnosed after 2015 had shorter time of diagnosis and the length of stay and lower hospitalization charge than cases diagnosed before 2014, and the difference was statistically significant ((25±7) vs. (10±5) d, (29±7) vs. (18±6) d, (3.7×104±1.2×104) vs. (3.2×104±1.2×104) Yuan, t=13.763, 9.262, 2.381, all P<0.05). Conclusions: Patients with CGD are younger at onset and the diagnosis is delayed. Pulmonary infections are the most common. Large BCG scar, left axillary lymphadenopathy or calcification, skin or other lymph node infections, skin scars, multiple lung nodules, perianal abscesses, pulmonary Aspergillus infection and Burkholderia infection can help early diagnosis of CGD.
目的： 探讨慢性肉芽肿病（CGD）患儿早期诊断的临床线索。 方法： 回顾性分析2007年1月至2020年10月在首都医科大学附属北京儿童医院呼吸二科诊断的139例CGD患儿的起病年龄、首发表现、主要就诊原因、病原学诊断、影像学特点、诊断线索及预后等临床资料进行评估。根据诊断年度分为2015年之前诊断组和2015年及2015年之后诊断组（简称2015年之后诊断组），分析两组患儿的诊断耗时、住院时间和住院费用。组间比较采用t检验和χ²检验。 结果： 139例CGD中男119例、女20例。起病年龄4月龄（8日龄至14岁），103例（74.1%）患儿于1岁前起病。诊断年龄为1.8岁（21.0日龄至14.7岁），诊断延迟时间1.0年（7.0 d至13.7年）。135例（97.1%）以肺部感染为主要就诊原因，其中76例（56.3%）肺部病原学阳性。136例（97.8%）为转诊病例，其中5例转诊前被疑诊CGD，CGD漏诊率高达96.3%（131/136）。139例患儿共有的较为特异、可早期提示CGD诊断的8个线索为卡疤增大99例（71.2%）、左腋下淋巴结肿大或钙化73例（52.5%）、皮肤或其他部位淋巴结感染58例（41.7%）、皮肤瘢痕50例（36.0%），双肺多发结节影42例（30.2%）、肛周脓肿35例（25.2%）、肺曲霉菌感染26例（18.7%）及肺伯克霍尔德菌感染15例（10.8%）。住院期间呼吸爆发实验确诊120例，2015年之前组55例、2015年之后组65例，利用这8个早期诊断线索，2015年之后患儿的诊断耗时、住院时间及住院费用均低于2015年之前诊断的患儿［（25±7）比（10±5）d、（29±7）比（18±6）d、（3.7±1.2）比（3.2±1.2）万元，t=13.763、9.262、2.381，均P<0.05］。 结论： CGD患儿起病早而诊断晚，肺部感染是CGD患儿最常见的首发表现及就诊原因。卡疤增大、左腋下淋巴结肿大或钙化、皮肤或其他部位淋巴结感染、皮肤瘢痕、双肺多发结节影、肛周脓肿、肺曲霉菌感染及肺伯克霍尔德菌感染可帮助早期诊断CGD。.