2021年 · 第134卷第13期

出版日期 2021-07-05电子版￥0.00元

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Editorial

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慢性阻塞性肺疾病三联疗法：新证据下的思考

Yong-Hua Gao, Rong-Chang Chen

中华医学杂志英文版2021年 134卷 13期

DOI: 10.1097/CM9.0000000000001340

摘要

Consensus Statement

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临床实践指南BRCA1/2乳腺癌患者检测：中国乳腺外科学会（CSBrS）实践指南2021

Fei Xie, Shu Wang

中华医学杂志英文版2021年 134卷 13期

DOI: 10.1097/CM9.0000000000001587

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导管癌临床实践指南原地：中国乳腺外科学会（CSBrS）执业指南2021

Ang Zheng, Zi-Ning Jin, Meng-Yao Cui, Bo Chen, Fan Yao, Feng Jin, Ying-Ying Xu, Chinese Society of Breast Surgery

中华医学杂志英文版2021年 134卷 13期

DOI: 10.1097/CM9.0000000000001506

摘要

Review Article

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呼吸道病毒感染和慢性阻塞性肺疾病中的T细胞反应

Shouxiong Huang, Quan He, Linfu Zhou

中华医学杂志英文版2021年 134卷 13期

DOI: 10.1097/CM9.0000000000001388

摘要

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干细胞治疗慢性阻塞性肺疾病

Yun-Tian Chen, Kang Miao, Linfu Zhou, Wei-Ning Xiong

中华医学杂志英文版2021年 134卷 13期

DOI: 10.1097/CM9.0000000000001596

摘要

Medical Progress

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人工智能驱动的慢性阻塞性肺疾病患者远程监护

Xuying Li, Hao-Peng Zhou, Zhi-Jun Zhou, Nan Du, Er-Heng Zhong, Ke Zhai, Nathan Liu, Linfu Zhou

中华医学杂志英文版2021年 134卷 13期

DOI: 10.1097/CM9.0000000000001529

摘要

Ideas and Opinion

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不利耳廓再造术的治疗进展

Rui Guo, Qing-Guo Zhang

中华医学杂志英文版2021年 134卷 13期

DOI: 10.1097/CM9.0000000000001472

摘要

Original Article

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江苏省社会经济地位与慢性阻塞性肺疾病的关系：一项基于人群的研究

Dan-Dan Zhang, Jian-Nan Liu, Qing Ye, Zi Chen, Ling Wu, Xue-Qing Peng, Gan Lu, Jin-Yi Zhou, Ran Tao, Zhen Ding 等

中华医学杂志英文版2021年 134卷 13期

DOI: 10.1097/CM9.0000000000001609

摘要

Background: Chronic obstructive pulmonary disease (COPD) is a common public health problem worldwide. Recent studies have reported that socioeconomic status (SES) is related to the incidence of COPD. This study aimed to investigate the association between SES and COPD among adults in Jiangsu province, China, and to determine the possible direct and indirect effects of SES on the morbidity of COPD. Methods: A cross-sectional study was conducted among adults aged 40 years and above between May and December of 2015 in Jiangsu province, China. Participants were selected using a multistage sampling approach. COPD, the outcome variable, was diagnosed by physicians based on spirometry, respiratory symptoms, and risk factors. Education, occupation, and monthly family average income (FAI) were used to separately indicate SES as the explanatory variable. Mixed-effects logistic regression models were introduced to calculate odds ratios (ORs) and 95% confidence intervals (CIs) for examining the SES-COPD relationship. A pathway analysis was conducted to further explore the pulmonary function impairment of patients with different SES. Results: The mean age of the 2421 participants was 56.63 ± 9.62 years. The prevalence of COPD was 11.8% (95% CI: 10.5%-13.1%) among the overall sample population. After adjustment for age, gender, residence, outdoor and indoor air pollution, body weight status, cigarette smoking, and potential study area-level clustering effects, educational attainment was negatively associated with COPD prevalence in men; white collars were at lower risk (OR: 0.60, 95% CI: 0.43-0.83) of experiencing COPD than blue collars; compared with those within the lower FAI subgroup, participants in the upper (OR: 0.68, 95% CI: 0.49-0.97) tertiles were less likely to experience COPD. Such negative associations between all these three SES indicators and COPD were significant among men only. Education, FAI, and occupation had direct or indirect effects on pulmonary function including post-bronchodilator forced expiratory volume in 1 s/forced vital capacity (FEV1/FVC), FEV1, FVC, and FEV1 percentage of predicted. Education, FAI, and occupation had indirect effects on pulmonary function indices of all participants mainly through smoking status, indoor air pollution, and outdoor air pollution. We also found that occupation could affect post-bronchodilator FEV1/FVC through body mass index. Conclusions: Education, occupation, and FAI had an adverse relationship with COPD prevalence in Jiangsu province, China. SES has both direct and indirect associations with pulmonary function impairment. SES is of great significance for COPD morbidity. It is important that population-based COPD prevention strategies should be tailored for people with different SES.

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极早产和极低出生体重儿的产房复苏和短期结局：华北地区的一项多中心调查

Shuai-Jun Li, Qi Feng, Xiu-Ying Tian, Ying Zhou, Yong Ji, Yue-Mei Li, Shu-Fen Zhai, Wei Guo, Fang Zhang, Rong-Xiu Zheng 等

中华医学杂志英文版2021年 134卷 13期

DOI: 10.1097/CM9.0000000000001499

摘要

Background: Delivery room resuscitation assists preterm infants, especially extremely preterm infants (EPI) and extremely low birth weight infants (ELBWI), in breathing support, while it potentially exerts a negative impact on the lungs and outcomes of preterm infants. This study aimed to assess delivery room resuscitation and discharge outcomes of EPI and ELBWI in China. Methods: The clinical data of EPI (gestational age [GA] <28 weeks) and ELBWI (birth weight [BW] <1000 g), admitted within 72 h of birth in 33 neonatal intensive care units from five provinces and cities in North China between 2017 and 2018, were analyzed. The primary outcomes were delivery room resuscitation and risk factors for delivery room intubation (DRI). The secondary outcomes were survival rates, incidence of bronchopulmonary dysplasia (BPD), and risk factors for BPD. Results: A cohort of 952 preterm infants were enrolled. The incidence of DRI, chest compressions, and administration of epinephrine was 55.9% (532/952), 12.5% (119/952), and 7.0% (67/952), respectively. Multivariate analysis revealed that the risk factors for DRI were GA <28 weeks (odds ratio [OR], 3.147; 95% confidence interval [CI], 2.082-4.755), BW <1000 g (OR, 2.240; 95% CI, 1.606-3.125), and antepartum infection (OR, 1.429; 95% CI, 1.044-1.956). The survival rate was 65.9% (627/952) and was dependent on GA. The rate of BPD was 29.3% (181/627). Multivariate analysis showed that the risk factors for BPD were male (OR, 1.603; 95% CI, 1.061-2.424), DRI (OR, 2.094; 95% CI, 1.328-3.303), respiratory distress syndrome exposed to ≥2 doses of pulmonary surfactants (PS; OR, 2.700; 95% CI, 1.679-4.343), and mechanical ventilation ≥7 days (OR, 4.358; 95% CI, 2.777-6.837). However, a larger BW (OR, 0.998; 95% CI, 0.996-0.999), antenatal steroid (OR, 0.577; 95% CI, 0.379-0.880), and PS use in the delivery room (OR, 0.273; 95% CI, 0.160-0.467) were preventive factors for BPD (all P < 0.05). Conclusion: Improving delivery room resuscitation and management of respiratory complications are imperative during early management of the health of EPI and ELBWI.

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临床信息及管理现状再一次IV期乳腺癌患者：一项中国多中心研究（CSBrS-002）

Ang Zheng, Bao-Liang Guo, Jian-Guo Zhang, Feng Jin, Chinese Society of Breast Surgery

中华医学杂志英文版2021年 134卷 13期

DOI: 10.1097/CM9.0000000000001415

摘要

Background: Although de novo stage IV breast cancer is so far incurable, it has entered an era of individualized treatment and chronic disease management. Based on systemic treatment, whether the surgical resection of primary or metastatic foci of de novo stage IV breast cancer can bring survival benefits is currently controversial. We aimed to explore the clinicopathological factors and current status of the management of de novo stage IV breast cancer in China to provide a reference for clinical decisions. Methods: Based on the assistance of Chinese Society of Breast Surgery, a retrospective study was conducted to analyze the clinical data of patients with de novo stage IV breast cancer in 33 centers from January 2017 to December 2018. The relationship between basic characteristic (age, menstrual status, family history, reproductive history, pathological type, estrogen receptor [ER] status, progesterone receptor [PR] status, human epidermal growth factor receptor 2 [HER2] status, Ki-67 percentage, and molecular subtype), and metastasis sites (lung metastasis, liver metastasis, and bone metastasis) was examined by Pearson Chi-square tests. Results: A total of 468 patients with de novo stage IV breast cancer were enrolled. The median age of the enrolled patients was 51.5 years. The most common pathological type of primary lesion was invasive carcinoma (97.1%). Luminal A, luminal B, HER2 overexpressing, and triple-negative subtypes accounted for 14.3%, 51.8%, 22.1%, and 11.8% of all cases, respectively. Age, PR status, and HER2 status were correlated with lung metastasis (χ2= 6.576, 4.117, and 8.643 and P = 0.037, 0.043, and 0.003, respectively). Pathological type, ER status, PR status, and molecular subtype were correlated with bone metastasis (χ2 = 5.117, 37.511, 5.224, and 11.603 and P = 0.024, <0.001, 0.022, and 0.009, respectively). Age, PR status, HER2 status, Ki-67 percentage, and molecular subtype were correlated with liver metastasis (χ2= 11.153, 13.378, 10.692, 21.206, and 17.684 and P= 0.004, <0.001, 0.001, <0.001, and 0.001, respectively). Combined treatment with paclitaxel and anthracycline was the most common first-line chemotherapy regimen for patients with de novo stage IV breast cancer (51.7%). Overall, 91.5% of patients used paclitaxel-containing regimens. Moreover, 59.3% of hormone receptor-positive patients underwent endocrine therapy. Conclusions: In 2018, 1.07% of patients from all studied centers were diagnosed with de novo stage IV breast cancer. This study indicated that 95.1% of patients received systemic therapy and 54.2% of patients underwent surgical removal of the primary lesion in China.

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一种新的列线图提高了预测根治性前列腺切除术后生化复发的准确性

Hai-Zhui Xia, Hai Bi, Ye Yan, Bin Yang, Ruo-Zhuo Ma, Wei He, Xue-Hua Zhu, Zhi-Ying Zhang, Yu-Ting Zhang, Lu-Lin Ma 等

中华医学杂志英文版2021年 134卷 13期

DOI: 10.1097/CM9.0000000000001607

摘要

Background: Various prediction tools have been developed to predict biochemical recurrence (BCR) after radical prostatectomy (RP); however, few of the previous prediction tools used serum prostate-specific antigen (PSA) nadir after RP and maximum tumor diameter (MTD) at the same time. In this study, a nomogram incorporating MTD and PSA nadir was developed to predict BCR-free survival (BCRFS). Methods: A total of 337 patients who underwent RP between January 2010 and March 2017 were retrospectively enrolled in this study. The maximum diameter of the index lesion was measured on magnetic resonance imaging (MRI). Cox regression analysis was performed to evaluate independent predictors of BCR. A nomogram was subsequently developed for the prediction of BCRFS at 3 and 5 years after RP. Time-dependent receiver operating characteristic (ROC) curve and decision curve analyses were performed to identify the advantage of the new nomogram in comparison with the cancer of the prostate risk assessment post-surgical (CAPRA-S) score. Results: A novel nomogram was developed to predict BCR by including PSA nadir, MTD, Gleason score, surgical margin (SM), and seminal vesicle invasion (SVI), considering these variables were significantly associated with BCR in both univariate and multivariate analyses (P < 0.05). In addition, a basic model including Gleason score, SM, and SVI was developed and used as a control to assess the incremental predictive power of the new model. The concordance index of our model was slightly higher than CAPRA-S model (0.76 vs. 0.70, P = 0.02) and it was significantly higher than that of the basic model (0.76 vs. 0.66, P = 0.001). Time-dependent ROC curve and decision curve analyses also demonstrated the advantages of the new nomogram. Conclusions: PSA nadir after RP and MTD based on MRI before surgery are independent predictors of BCR. By incorporating PSA nadir and MTD into the conventional predictive model, our newly developed nomogram significantly improved the accuracy in predicting BCRFS after RP.

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自体移植真实结果的多中心回顾性研究vs异基因造血干细胞移植治疗外周T细胞淋巴瘤

Zhen-Yang Gu, Yu-Jun Dong, Xiao-Rui Fu, Nai-Nong Li, Yao Liu, Xiao-Xiong Wu, Yi-Ni Wang, Yu-Hang Li, Han-Yun Ren, Ming-Zhi Zhang 等

中华医学杂志英文版2021年 134卷 13期

DOI: 10.1097/CM9.0000000000001575

摘要

Background: There were few studies on real-world data about autologous hematopoietic stem cell transplantation (auto-HSCT) or allogeneic HSCT (allo-HSCT) in peripheral T-cell lymphoma (PTCL). This study aimed to investigate the clinical outcomes of patients who received auto-HSCT or allo-HSCT in China. Methods: From July 2007 to June 2017, a total of 128 patients who received auto-HSCT (n = 72) or allo-HSCT (n = 56) at eight medical centers across China were included in this study. We retrospectively collected their demographic and clinical data and compared the clinical outcomes between groups. Results: Patients receiving allo-HSCT were more likely to be diagnosed with stage III or IV disease (95% vs. 82%, P = 0.027), bone marrow involvement (42% vs. 15%, P= 0.001), chemotherapy-resistant disease (41% vs. 8%, P= 0.001), and progression disease (32% vs. 4%, P < 0.001) at transplantation than those receiving auto-HSCT. With a median follow-up of 30 (2-143) months, 3-year overall survival (OS) and progression-free survival (PFS) in the auto-HSCT group were 70%(48/63) and 59%(42/63), respectively. Three-year OS and PFS for allo-HSCT recipients were 46%(27/54) and 44%(29/54), respectively. There was no difference in relapse rate (34%[17/63] in auto-HSCT vs. 29%[15/54] in allo-HSCT, P = 0.840). Three-year non-relapse mortality rate in auto-HSCT recipients was 6%(4/63) compared with 27%(14/54) for allo-HSCT recipients (P = 0.004). Subanalyses showed that patients with lower prognostic index scores for PTCL (PIT) who received auto-HSCT in an upfront setting had a better outcome than patients with higher PIT scores (3-year OS: 85% vs. 40%, P = 0.003). Patients with complete remission (CR) undergoing auto-HSCT had better survival (3-year OS: 88% vs. 48% in allo-HSCT, P = 0.008). For patients beyond CR, the outcome of patients who received allo-HSCT was similar to that in the atuo-HSCT group (3-year OS: 51% vs. 46%, P = 0.300). Conclusions: Our study provided real-world data about auto-HSCT and allo-HSCT in China. Auto-HSCT seemed to be associated with better survival for patients in good condition (lower PIT score and/or better disease control). For patients possessing unfavorable characteristics, the survival of patients receiving allo-HSCT group was similar to that in the auto-HSCT group.

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1999-2016年美国全国系列调查中代谢相关脂肪性肝病的心血管和肾脏负担

Hao-Jie Zhang, Yu-Ying Wang, Chi Chen, Ying-Li Lu, Ning-Jian Wang

中华医学杂志英文版2021年 134卷 13期

DOI: 10.1097/CM9.0000000000001513

摘要

Background: Non-communicable chronic diseases have become the leading causes of disease burden worldwide. The trends and burden of "metabolic associated fatty liver disease" (MAFLD) are unknown. We aimed to investigate the cardiovascular and renal burdens in adults with MAFLD and non-alcoholic fatty liver disease (NAFLD). Methods: Nationally representative data were analyzed including data from 19,617 non-pregnant adults aged ≥20 years from the cross-sectional US National Health and Nutrition Examination Survey periods, 1999 to 2002, 2003 to 2006, 2007 to 2010, and 2011 to 2016. MAFLD was defined by the presence of hepatic steatosis plus general overweight/obesity, type 2 diabetes mellitus, or evidence of metabolic dysregulation. Results: The prevalence of MAFLD increased from 28.4% (95% confidence interval 26.3-30.6) in 1999 to 2002 to 35.8% (33.8-37.9) in 2011 to 2016. In 2011 to 2016, among adults with MAFLD, 49.0% (45.8-52.2) had hypertension, 57.8% (55.2-60.4) had dyslipidemia, 26.4% (23.9-28.9) had diabetes mellitus, 88.7% (87.0-80.1) had central obesity, and 18.5% (16.3-20.8) were current smokers. The 10-year cardiovascular risk ranged from 10.5% to 13.1%; 19.7% (17.6-21.9) had chronic kidney diseases (CKDs). Through the four periods, adults with MAFLD showed an increase in obesity; increase in treatment to lower blood pressure (BP), lipids, and hemoglobin A1c; and increase in goal achievements for BP and lipids but not in goal achievement for glycemic control in diabetes mellitus. Patients showed a decreasing 10-year cardiovascular risk over time but no change in the prevalence of CKDs, myocardial infarction, or stroke. Generally, although participants with NAFLD and those with MAFLD had a comparable prevalence of cardiovascular disease and CKD, the prevalence of MAFLD was significantly higher than that of NAFLD. Conclusions: From 1999 to 2016, cardiovascular and renal risks and diseases have become highly prevalent in adults with MAFLD. The absolute cardiorenal burden may be greater for MAFLD than for NAFLD. These data call for early identification and risk stratification of MAFLD and close collaboration between endocrinologists and hepatologists.

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钙通道阻滞剂改善2019冠状病毒病和高血压患者的预后

Chi Peng, Hao Wang, Yu-Feng Guo, Ge-Yao Qi, Chen-Xu Zhang, Ting Chen, Jia He, Zhi-Chao Jin

中华医学杂志英文版2021年 134卷 13期

DOI: 10.1097/CM9.0000000000001479

摘要

Background: Hypertension is considered an important risk factor for the coronavirus disease 2019 (COVID-19). The commonly anti-hypertensive drugs are the renin-angiotensin-aldosterone system (RAAS) inhibitors, calcium channel blockers (CCBs), and beta-blockers. The association between commonly used anti-hypertensive medications and the clinical outcome of COVID-19 patients with hypertension has not been well studied. Methods: We conducted a retrospective cohort study that included all patients admitted with COVID-19 to Huo Shen Shan Hospital and Guanggu District of the Maternal and Child Health Hospital of Hubei Province, Wuhan, China. Clinical and laboratory characteristics were extracted from electronic medical records. Hypertension and anti-hypertensive treatment were confirmed by medical history and clinical records. The primary clinical endpoint was all-cause mortality. Secondary endpoints included the rates of patients in common wards transferred to the intensive care unit and hospital stay duration. Logistic regression was used to explore the risk factors associated with mortality and prognosis. Propensity score matching was used to balance the confounders between different anti-hypertensive treatments. Kaplan-Meier curves were used to compare the cumulative recovery rate. Log-rank tests were performed to test for differences in Kaplan-Meier curves between different groups. Results: Among 4569 hospitalized patients with COVID-19, 31.7% (1449/4569) had a history of hypertension. There were significant differences in mortality rates between hypertensive patients with CCBs (7/359) and those without (21/359) (1.95% vs. 5.85%, risk ratio [RR]: 0.32, 95% confidence interval [CI]: 0.13-0.76, χ2 = 7.61, P = 0.0058). After matching for confounders, the mortality rates were similar between the RAAS inhibitor (4/236) and non-RAAS inhibitor (9/236) cohorts (1.69% vs. 3.81%, RR: 0.43, 95% CI: 0.13-1.43, χ2 = 1.98, P = 0.1596). Hypertensive patients with beta-blockers (13/340) showed no statistical difference in mortality compared with those without (11/340) (3.82% vs. 3.24%, RR: 1.19, 95% CI: 0.53-2.69, χ2= 0.17, P= 0.6777). Conclusions: In our study, we did not find any positive or negative effects of RAAS inhibitors or beta-blockers in COVID-19 patients with hypertension, while CCBs could improve prognosis.

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依达拉奉对老年髋关节置换患者血清CXC趋化因子配体-13水平及围手术期神经认知障碍的影响

Hai-Hui Xie, Hong-Yan Ma, Shu Zhang, Jian-Wen Li, Qi Han, Hui-Qun Chen, Bo-Qin Su, Jian-Ping Zhou

中华医学杂志英文版2021年 134卷 13期

DOI: 10.1097/CM9.0000000000001492

摘要

Background: Perioperative neurocognitive disorders (PND) are a series of severe complications in the perioperative and anesthetic periods with a decline in memory, execution ability, and information processing speed as the primary clinical manifestation. This study aimed to evaluate the impact of edaravone (EDA) on PND and peripheral blood C-X-C motif chemokine ligand 13 (CXCL13) levels in elderly patients with hip replacement. Methods: A total of 160 elderly patients undergoing hip arthroplasty in Affiliated Dongguan People’s Hospital of Southern Medical University (from March 2016 to March 2018) were randomly and double-blindly categorized into an EDA group and a control group (CON). Group EDA was administered intravenously EDA 30 min before surgery, and group CON was administered intravenously saline. The cognitive function of the two groups was evaluated 1-day before the operation and at 1 and 12 months after surgery, and the incidence of post-operative delirium was tested on days 1, 3, and 7 after surgery using the Chinese version of the confusion assessment method. Serum CXCL13 and interleukin (IL)-6 concentrations were measured before anesthesia, during surgery (30 min after skin incision), and on days 1, 3, and 7 after surgery. The continuous variables in accordance with normal distribution were tested using the Student’s t test, the continuous variables without normal distribution using the Mann-Whitney U test, and categorical variables by the χ2 test or Fisher exact test. Results: The incidence of post-operative delirium within 7 days after surgery was significantly higher in group CON than that in group EDA (31.3% vs. 15.0%, t=-5.6, P < 0.001). The modified telephone interview for cognitive status and activities of daily life scores were significantly higher in the group EDA than those in the group CON at 1 month (39.63 ± 4.35 vs. 33.63 ± 5.81, t = -2.13, P < 0.05 and 74.3 ± 12.6 vs. 61.2 ± 13.1, t = -1.69, P < 0.05) and 12 months (40.13 ± 5.93 vs. 34.13 ± 5.36, t = -3.37, P < 0.05 and 79.6 ± 11.7 vs. 65.6 ± 16.6, t= -2.08, P < 0.05) after surgery; and the incidence of neurocognitive dysfunction was significantly lower in the group EDA than that in the group CON (P < 0.05). Serum CXCL13 and IL-6 concentrations were significantly lower in the group EDA than those in the group CON during and after surgery (P < 0.05). Conclusion: EDA can significantly reduce the serum concentrations of CXCL13 and IL-6 and improve the PND of patients.

Clinical Observation

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厦门市大气颗粒物浓度与慢性呼吸道疾病住院和门诊就诊的关系

Tao-Ling Zhong, Yi-Wei Zhang, Xiang-Yang Yao, Guang-Hui Xu, Hui Liu, Qiu-Shi Xu, Wei Sun, Zhi-Bin Li, Yun-Gang Yang, Jin-Zhun Wu 等

中华医学杂志英文版2021年 134卷 13期

DOI: 10.1097/CM9.0000000000001435

摘要

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开放复位或开放复位联合Dega截骨术对发育性髋关节发育不良髋臼适应性的短期磁共振成像分析

Yan Meng, Zhao Lu, Xiang-Lin Zhang, Lian-Yong Li, Shi-Nong Pan

中华医学杂志英文版2021年 134卷 13期

DOI: 10.1097/CM9.0000000000001583

摘要

Correspondence

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短暂性脑缺血发作后阻塞性睡眠呼吸暂停综合征患者的纵向认知功能障碍

Yuan-Yuan Meng, Yong-Chao Yu, Ben Nie, Li-Juan Xu, Mei Lu, Kun Yu

中华医学杂志英文版2021年 134卷 13期

DOI: 10.1097/CM9.0000000000001428

摘要

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芦可替尼治疗原发性噬血细胞性淋巴组织细胞增多症患者造血干细胞移植后闭塞性细支气管炎综合征

Guang-Qiang Meng, Yi-Ni Wang, Jing-Shi Wang, Zhao Wang

中华医学杂志英文版2021年 134卷 13期

DOI: 10.1097/CM9.0000000000001324

摘要

致编辑：一名发生噬血细胞性淋巴组织细胞增多症（HLH）的20岁男性接受了甲基强的松龙联合依托泊苷（VP-16）治疗24周。治疗完成后一个月，HLH复发。患者到北京友谊医院血液科就诊，诊断为原发性HLH伴PRF1融合基因突变。随后，他接受了脂质体阿霉素、VP-16和甲基强的松龙（DEP）的治疗，并获得了完全缓解。随后，在2014年7月，患者接受了来自等位基因人类白细胞抗原（HLA）-5/10匹配的骨髓供体的同种异体造血干细胞移植（allo-HSCT）。移植前使用全身照射/环磷酰胺/VP-16（TBI/CY/VP-16）的预处理方案。此外，患者接受环孢素、甲氨蝶呤和霉酚酸酯预防移植物抗宿主病（GVHD）。然而，该患者在2年后发生了肝脏慢性GVHD（cGVHD），并接受了甲基强的松龙和他克莫司（FK506）的抗GVHD治疗。尽管进行了治疗，但在HSCT后26个月，患者因进行性呼吸困难再次入院。HSCT前，患者1 s用力呼气量（FEV1）为预测值的115.2%，FEV1/用力肺活量（FVC）为87.5%。然而，HSCT后，肺功能测试（PFT）显示FEV1降低31.7%，FEV1/FVC降低36.6%。胸部计算机断层扫描（CT）检查显示多个柱状支气管扩张和双肺空气滞留。未发现提示肺部或其他器官感染的证据。基于这些发现，确定了HSCT后闭塞性细支气管炎综合征（BOS）的诊断，患者接受了甲基强的松龙（8 mg bid）和FK506（3 mg bid）治疗。治疗3个月后，呼吸困难症状没有改善，患者FEV1也没有明显改善。在甲基强的松龙和FK506给药后，患者接受间充质干细胞（MSCs）（100 mL × 5，细胞数5 × 10⁷/100mL)。尽管如此，患者的呼吸困难症状并未改善，FEV1稳步下降至24.6%（最低记录值）。随后，开始ruxolitinib治疗（10mg BID）并停止MSCs治疗。ruxolitinib治疗3个月后，患者BOS症状达到一定程度的稳定和改善，FEV1为35.1%[图1].在开始鲁索替尼治疗后不久，将每日甲基强的松龙剂量降至2 mg bid，并继续鲁索替尼治疗总共7个月。然而，胸部CT检查显示，在完成鲁索替尼治疗后，多发性支气管扩张仍然存在。患者仍然活着，能够参加3.5年的随访。

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157个中国家系苯丙酮尿症的分子诊断及其产前诊断结果

Yang Xiao, Qiang Gu, Hai-Rong Wu, Song-Tao Wang, Pei Pei, Xue-Fei Zheng, Hong Pan, Yi-Nan Ma

中华医学杂志英文版2021年 134卷 13期

DOI: 10.1097/CM9.0000000000001469

摘要