Table of Content

20 May 2021, Volume 36 Issue 5

Previous Issue    Next Issue

Effects of HBV infection on liver metastasis of tumor: A meta-analysis

Wang Shimeng, Ma Yingji, Wu Ying, Liu Xiaodan, Wang Wei

2021, 36(5):  389-394.  doi:10.3969/j.issn.1004-583X.2021.05.001

Asbtract ( 542 )   PDF (1457KB) ( 125 )   HTML ( 0)  

Figures and Tables | References | Related Articles | Metrics

Objective To evaluate the effects of hepatitis-B virus (HBV) infection on various liver metastasis of tumors. Methods The published relevant literature on the effect of HBV on tumor liver metastasis were searched in PubMed, CNKI, and Wanfang Medical Database with the deadline dated on March 1, 2020. The studies on the incidence of liver metastasis in patients with HBV infection (infection group) and tumor patients without HBV infection (control group) were screened out. The quality evaluation on the literature was made, relevant data were extracted, and the meta-analysis was implemented with RevMan 5.3. Results A total of 22 articles were included. The risk of liver metastasis in patients complicated with HBV-infected tumors was significantly lower than in HBV-uninfected patients (OR=0.51, 95%CI 0.36-0.72,P<0.01). The studies on colon cancer, breast cancer, gastric cancer, and non-small cell lung cancer showed that combined HBV infection reduced the risk of liver metastasis(P<0.05), two literature reported liver metastasis of nasopharyngeal carcinoma risk, the patients with nasopharyngeal carcinoma with HBV infection had higher risk of liver metastasis (OR=3.37, 95%CI 1.84-6.19, P<0.01); two literature reported the risk of pancreatic cancer metastasis, HBV infection did not have significant effects on liver metastasis in patients with pancreatic cancer, and the difference was not statistically significant (P>0.05). Conclusion Combined HBV infection can reduce the incidence of liver metastases.

Meta-analysis on efficacy and safety of glucagon like peptide-1 receptor agonist on patients with polycystic ovary syndrome

Li Lei, Aaletengqiqige, Zhang Mingchen, Jiang Sheng

2021, 36(5):  395-401.  doi:10.3969/j.issn.1004-583X.2021.05.002

Asbtract ( 531 )   PDF (2025KB) ( 77 )   HTML ( 0)  

Figures and Tables | References | Related Articles | Metrics

Objective To evaluate the efficacy and safety of glucagon like peptide-1(GLP-1) receptor agonist and metformin for the treatment of polycystic ovary syndrome (PCOS). Methods Two researchers searched the databases including PubMed, CENTRAL (Issue 3, 2020), EMbase, Wanfang Data, CBM, CNKI to collect the randomized controlled trails (RCTs) about GLP-1 receptor agonist for polycystic ovary syndrome, the retrieval time limit was defined as from the establishment of the database until April 2020. The two researchers screened the literature, extracted data, and evaluated the risk of bias in the included research data, and used RevMan 5.3 software to conduct a meta-analysis. Results A total of 10 RCTs (5 RCTs with exenatide and 5 RCTs with liraglutide) involving 654 patients were included. In terms of efficacy, body mass index (BMI), abdominal circumference, homeostasis model assessment of insulin resistance (HOMA-IR) in GLP-1 group were significantly lower than those in metformin group. In safety, the incidence of nausea and headache in GLP-1 group was significantly higher than those in metformin group. The incidence of diarrhea in GLP-1 group was significantly lower than that in metformin group. Conclusion GLP-1 receptor agonists were significantly better than metformin in reducing BMI, abdominal circumference, HOMA-IR in PCOS patients. However, the medicines are more likely to cause adverse reactions such as nausea and headache.

Influencing factors of myocardial microcirculation perfusion disorder after percutaneous coronary intervention in acute myocardial infarction and relationship with lactic acid

Shi Jun, Liu Xinbing, Bai Yanyan, Yue Dandan, Wang Xiaoqing, Liu Tianhua, Feng Liuliu

2021, 36(5):  402-407.  doi:10.3969/j.issn.1004-583X.2021.05.003

Asbtract ( 775 )   PDF (948KB) ( 131 )   HTML ( 0)  

Figures and Tables | References | Related Articles | Metrics

Objective To explore the influencing factors of myocardial microcirculation perfusion(MMP) disorder after percutaneous coronary intervention(PCI) in acute myocardial infarction(AMI) and its relationship with lactic acid. Methods Totally 132 patients undergoing PCI for AMI admitted to our hospital between February 2019 and July 2020 were selected, they were divided into the observation group (TMPG 0-2, poor MMP; n=56) and the control group (TMPG 3, good MMP; n=76) according to TIMI myocardial perfusion grading (TMPG), the data of two groups were collected, and binary logistic regression were used to analyze the influencing factors. ROC curve, lactic acid prediction, and Pearson method were used to analyze the correlation between lactic acid and the data, such as MMP, thrombolysis in myocardial infarction(TIMI), symptoms-to the first medical contact(FMC), FMC to heparin(FMC-H) administration, mojor adverse cardiovascular events(MACEs), history of diabetes, chronic slow flow(CSF), history of hypertension, history of smoking. Results The occurrence of MMP disorders in patients FMC-H>4 h, symptom-FMC>4 h, TIMI blood flow grade 0-2, MACEs, history of diabetes, CSF, history of hypertension, history of smoking were all independent factors that affected the occurrence of MMP disorders in patients(P<0.05). The accuracy, sensitivity and the specificity in predicting MMP by lactic acid was 93.94%, 91.10%, 96.10%, respectively. The lactic acid in observation group was higher than in the control group, FMC-H time and symptom-FMC time were longer than in the control group, and TIMI blood flow was lower than in the control group (P<0.05). The level of lactic acid was positively correlated with FMC-H time, symptom-FMC time, and negatively correlated with MMP, TIMI blood flow, MACEs, history of diabetes, CSF, history of hypertension, and smoking history. Conclusion MACEs, FMC-H time, FMC time, TIMI grade, chronic disease, and smoking history are all factors that affect MMP in patients undergoing PCI for AMI. Therefore, prevention and intervention are needed to reduce myocardial ischemia and reperfusion injury. Lactic acid can be used as an effective indicator to predict myocardial microcirculation perfusion status.

Differential distribution of CYP2C19 gene polymorphism in coronary heart disease patients in Zhaoqing, Guangdong Province

Zhang Xiaole, Cai Zhaoxu, Xie Liyan, Liang Longqing

2021, 36(5):  408-411.  doi:10.3969/j.issn.1004-583X.2021.05.004

Asbtract ( 600 )   PDF (853KB) ( 87 )   HTML ( 0)  

Figures and Tables | References | Related Articles | Metrics

Objective To investigate the distribution of CYP2C19 gene polymorphism in patients with coronary heart disease(CHD) in Zhaoqing, Guangdong Province, and to compare the distribution of CYP2C19 gene polymorphism in gender and that in other regions in Guangdong Province, so as to provide theoretical basis of individualized medication for antiplatelet therapy in CHD patients. Methods A total of 501 CHD patients from June 2019 to November 2020 were detected for CYP2C19 * 2, CYP2C19 * 3 and CYP2C19 * 17 gene polymorphisms by digital fluorescence molecular hybridization technology. Results In 501 CHD patients, the genotype proportion of CYP2C19*1*17, CYP2C19*1*1, CYP2C19*1*2, CYP2C19*1*3, CYP2C19*2*2 and CYP2C19*2*3 were 0.80%, 44.11%, 36.13%, 6.39%, 8.98% and 3.59%, respectively; the proportion of metabolic phenotypes of CYP2C19: ultrafast(UM), extensive(EM), intermediate(IM) and poor(PM) were 0.80%, 44.11%, 42.51% and 12.58%, respectively. The allele frequencies of CYP2C19*1,*2,*3 and *17 were 65.77%, 28.84%, 4.99% and 0.40%, respectively. There were no significant difference in the distribution of CYP2C19 genotypes, alleles and metabolisms in different genders (P>0.05); there were no significant difference in the distribution of CYP2C19 alleles and metabolisms among Zhaoqing, Guangzhou, Foshan, Dongguan, Meizhou Hakka, as well as Northern Guangdong (P>0.05). Conclusion CYP2C19 gene polymorphism exists in CHD patients in Zhaoqing area, and the proportion of CYP2C19 * 2 and CYP2C19 * 3 functional deletion alleles is relatively higher. It is suggested that CYP2C19 gene polymorphism should firstly be detected in CHD patients before clopidogrel antiplatelet therapy, so as to evaluate the resistance risk of clopidogrel and develop a reasonable individualized medication plan for patients.

Correlation between NT-proBNP, hs-CRP, left atrium diameter and chronic heart failure concurrent with atrial fibrillation

Zhao Meili, Xiao Liyuan, Liu Lin, Kang Chao, Zhang Qiuxiang

2021, 36(5):  412-415.  doi:10.3969/j.issn.1004-583X.2021.05.005

Asbtract ( 571 )   PDF (852KB) ( 130 )   HTML ( 0)  

Figures and Tables | References | Related Articles | Metrics

Objective To analyze the correlation between N-terminal pro-brain natriuretic peptide (NT-proBNP), high-sensitivity C-reactive protein (hs-CRP), left atrium diameter (LAD) and chronic heart failure (CHF) concurrent with atrial fibrillation. Methods A total of 287 CHF patients treated in our hospital from September 2019 to September 2020 were selected, 91 patients with atrial fibrillation were divided into the observation group and 196 patients without atrial fibrillation into in the control group. The difference of general information, blood glucose, blood lipid, uric acid, creatinine, NT-proBNP, hs-CRP and echocardiogram indexes in the two groups were analyzed, and the risk factors of CHF concurrent with atrial fibrillation were analyzed by Logistic regression. Results The course of disease, proportion of patients with New York Heart Association(NYHA) grade IV, uric acid, creatinine, NT-proBNP, hs-CRP, as well as LAD in the observation group were higher than in the control group(P<0.01). Logistic regression analysis showed that the course of disease (OR=1.638), cardiac function class (OR=2.242), NT-proBNP (OR=2.863), hs-CRP (OR=2.341), LAD(OR=3.671) were the main influencing factors of CHF concurrent with atrial fibrillation (P<0.05). Conclusion Long course of disease, IV in NYHA grade, the levels of NT-proBNP, hs-CRP and LAD increase added the risk of CHF concurrent with atrial fibrillation of patients. For CHF patients, targeted intervention should be strengthened to reduce the incidence of atrial fibrillation.

Clinical effect of sacubitril/valsartan for heart failure with mid-range ejection fraction in left ventricle

Xu Dongrui, Zhao Qinhui, Liu Tongxiang

2021, 36(5):  416-420.  doi:10.3969/j.issn.1004-583X.2021.05.006

Asbtract ( 745 )   PDF (868KB) ( 85 )   HTML ( 0)  

Figures and Tables | References | Related Articles | Metrics

Objective To investigate the clinical effect of sacubitril/valsartan for heart failure with mid-range ejection fraction(HFmrEF) in left ventricle. Methods Ninety-eight patients with HFmrEF in left ventricle who were recruited from August 2019 to August 2020 were randomly divided into observation group and control group with 49 cases in each group. On the basis of conventional anti-heart failure treatment, the observation group was treated with sacubitril/valsartan sodium, while the control group was treated with enalapril. All the medicines were taken orally for six months by patients in two groups, respectively. The related cardiac indexes were monitored and analyzed before and after the test, such as N-terminal pro-B-type natriuretic peptides(NT-proBNP), soluble growth stimulation expressed gene 2(sST2), C-reactive protein(CRP), left ventricular ejection fraction(LVEF), interventricular septal thickness(IVST), left ventricular end diastolic diameter(LVEDD), left ventricular posterior wall thickness(LVPWT), left atrial diameter(LAD), NYHA classification, 6-minute walk test(6MWT), systolic blood pressure(SBP), as well as the adverse events in two groups after treatment. Results After treatment, NT-proBNP, sST-2, and CRP in the two groups were all lower than those before treatment, and the observation group significantly decreased(P<0.05).LVEF showed an upward trend in the two groups after treatment, while IVST, LVEDD, LVPWT and LAD showed a downward trend in the two groups after treatment; the changes in the observation group were greater than those in the control group (P<0.05). The improvements of 6MWT, SBP and classification of NYHA heart function in the observation group were significantly better than those in the control group (P<0.05), and sacubitril/valsartan could significantly reduce the readmission rate of heart failure. Conclusion Sacubitril/valsartan for patients with HFmrEF in left ventricle can effectively improve cardiac function.

Short-term clinical efficacy and prognosis of recombinant tissue plasminogen activator in anterior-posterior circulation acute ischemic stroke

Wang Jun, Xiao Kejin, Gao Zhaoyu, Zhu Shenghua, Zhou Yi, Liu Xiaoyu, Cai Chaoqun

2021, 36(5):  421-424.  doi:10.3969/j.issn.1004-583X.2021.05.007

Asbtract ( 458 )   PDF (840KB) ( 54 )   HTML ( 0)  

Figures and Tables | References | Related Articles | Metrics

Objective To investigate the clinical effect and prognosis difference of recombinant tissue plasminogen activator (rt-PA) in intravenous thrombolysis for anterior-posterior circulation acute ischemic stroke(AIS). Methods The retrospective research was conducted in clinical data on 134 patients with anterior-posterior circulation AIS treated with rt-PA thrombolysis. According to infarction type, the patients were divided into anterior circulation group (ACI group, n=85), posterior circulation group (PCI group, n=49). NIHSS score and mRS score, early symptom improvement rate, good prognosis rate,symptomatic intracranial hemorrhage rate and mortality after thrombolysis were counted; and the clinical efficacy and safety of anterior-posterior circulation thrombolysis were assessed. Results After thrombolysis, NIHSS score and mRS score in PCI group were significantly lower than in ACI group (P<0.05). Conclusion Compared with anterior circulation infarction, the natural course of posterior circulation cerebral infarction is poor. And all patients can still benefit significantly if they were given rt-PA in time intravenous thrombolysis, and does not increase the bleeding risk.

Effect of sodium citrate anticoagulation in continuous renal replacement therapy on uremic patients with cerebral hemorrhage

Li Wenzhe, Shang Jinchun, Li Chunmei, Li Jun, Tian Fen, Cui Li, Chen Yipeng, Zhang Xiaofan, Xing Guangqun

2021, 36(5):  425-431.  doi:10.3969/j.issn.1004-583X.2021.05.008

Asbtract ( 956 )   PDF (1254KB) ( 125 )   HTML ( 2)  

Figures and Tables | References | Related Articles | Metrics

Objective To explore the advantages of sodium citrate anticoagulationin continuous renal replacement therapy(CRRT) on uremic patients with cerebral hemorrhage. Methods Totally 44 uremic patients with cerebral hemorrhage who were rescued from January 2012 to June 2020, were divided into sodium citrate anticoagulationin CRRT group(n=17) and heparin-free CRRT group(n=27) according to different anticoagulation methods. The survival rate and related items were compared between two groups. The patients were also divided into survival group(n=34) and death group(n=10) according to different outcome events. The value of sodium citrate anticoagulation in CRRT for uremic patients with cerebral hemorrhage was analyzed. Results The survival rate in sodium citrate anticoagulationin CRRT group was(100%) significantly higher than in heparin-free group(63.0%) (χ²=8.148,P=0.004). There were statistically significant difference in serum sodium, calcium, potassium, platelet count, white blood cell count, C-reactive protein, D-dimer, triglycerides in sodium citrate anticoagulationin CRRT group and heparin-free CRRT group. Blood B-type natriuretic peptide, calcium, CRP, D-dimer, phosphorus, white blood cell count in surival group were reduced compared with death group, but albumin, sodium, and platelet count were increased significantly in survival group. Conclusion Sodium citrate anticoagulation showed obvious advantage compared with heparin-free in CRRT on uremic patients with cerebral hemorrhage and can not only ensure adequate dialysis, but also improve the hyponatremia and hypercalcemia and reduce inflammation with the higher success rate of treatment.

Correlation analysis between neutrophil/lymphocyte ratio with Lee’s grading and Oxford classification of IgA nephropathy

Liu Jiali, Xie Rong, Li Xuelian, Liu Xiaohui

2021, 36(5):  432-435.  doi:10.3969/j.issn.1004-583X.2021.05.009

Asbtract ( 848 )   PDF (853KB) ( 145 )   HTML ( 0)  

Figures and Tables | References | Related Articles | Metrics

Objective To analyze the correlation between neutrophil /lymphocyte ratio(NLR) and Lee’s grading and Oxford classification of immunoglobulin A (IgA) nephropathy. Methods The data of clinical and pathological of 80 IgA nephropathy patients were selected, the patients were subject to the grading and grouping based on Lee's grading standard for pathology of IgA nephropathy, interstitial fibrosis and tubuloatrophy (T) grading standard of Oxford classification and were divided into two groups according to the crescents (C) grading standard of Oxford classification.The serum NLR,hypersensitive C-reactive protein (hsCRP), serum creatinine (SCr), blood urea nitrogen (BUN), 24 h urinary protein were determined. The glomerular filtration rate(eGFR) was estimated by modification of diet in renal disease equation. The correlation of NLR with Lee’s grading, Oxford classification and various clinical indicators of renal function were analyzed. Results In Lee’s grading and Oxford classification, NLR,SCr, BUN and 24 h urinary protein were gradually increased with the aggravating degree of renal pathological lesions, while eGFR gradually decreased (P<0.05). NLR was positively correlated with T and C gradings in Lee’s grading and Oxford classification as well as SCr, BUN, 24 h urinary protein (P<0.05),but negatively correlated with eGFR(P<0.05). Conclusion NLR can reflect the inflammatory state and activity of IgA nephropathy patients, and it is greatly correlated with the degree of pathological damage and renal function, delivering certain value in evaluating the renal injury degree and prognosis of IgA nephropathy.

Clinical characteristics of hereditary renal tubular disease in hypokalemia

Liu Fan, Sun Yan, Xu Chao, Shang Xiaohong, Qiao Yu, Li Guimei

2021, 36(5):  436-441.  doi:10.3969/j.issn.1004-583X.2021.05.010

Asbtract ( 663 )   PDF (1082KB) ( 129 )   HTML ( 2)  

Figures and Tables | References | Related Articles | Metrics

Objective To improve the level of diagnosis and treatment of hereditary renal tubular diseases by collecting clinical characteristics and prognostic events of hypokalemia caused by different pathogenic factors. Methods A retrospective analysis was conducted on the patients with hypokalemia admitted to the ward of Pediatric Endocrinology Department, Provincial Hospital Affiliated to Shandong First Medical University. Easily identifiable factors of gastrointestinal potassium loss and malnutrition were excluded. Clinical data were collected. Some patients received genetic detection, and clinical characteristics of hereditary renal tubular disease were analyzed. Results In 65 patients with hypokalemia, there were 29 male cases and 36 female cases. A total of 47 cases were found to have hereditary renal tubular diseases, including Bartter syndrome (23 cases), renal tubular acidosis (14 cases), Gitelman syndrome (8 cases) and Fanconi syndrome (2 cases). Ten patients underwent genetic testing, 9 cases had confirmed pathogenic mutations (including one novel mutation). Bartter syndrome showed hypokalemia, hyponatremia and hypochloremic metabolic alkalosis. Gitelman syndrome was characterized by hypokalemia and hypochloremia, and nenal tubular acidosis was characterized by hyperchloremic acidosis. The onset age of Bartter syndrome was the youngest, followed by renal tubular acidosis, and older patients were often found in Gitelman syndrome. The most common symptoms of Bartter syndrome were gastrointestinal discomfort, polydipsia & urorrhagia, and growth retardation. Gitelman syndrome was mainly caused by gastrointestinal symptoms, growth retardation and weakness. Renal tubular acidosis patients were mainly characterized by limb weakness and growth retardation. The children with hereditary renal tubular diseases had great prognosis after treatment, and most of patients achieved biochemical normalization and catch-up growth. Conclusion Hereditary renal tubular disease is an important cause of hypokalemia with different clinical and biochemical characteristics. Genetic examination is useful for diagnosis, and long-term treatment and follow-up makes for improving prognosis.

Clinical features and risk factors of acute kidney injury after hip fracture in the elderly

Zhang Linli, Ma Xiaohong

2021, 36(5):  442-445.  doi:10.3969/j.issn.1004-583X.2021.05.011

Asbtract ( 540 )   PDF (840KB) ( 150 )   HTML ( 0)  

Figures and Tables | References | Related Articles | Metrics

Objective To investigate clinical characteristics and risk factors of acute kidney injury(AKI) after hip fracture in the elderly. Methods Four hundred and seventy patients undergoing hip fracture surgeries were selected. According to the criteria for acute kidney injury, the patients were divided into non-AKI group (276 cases) and AKI group (194 cases). The white blood cells (WBC), red blood cells (RBC), serum creatinine (SCr), blood urea nitrogen (BUN), albumin (ALB), glomerular filtration rate (eGFR), hemoglobin (Hb) indicators, acid-base balance (pH), partial pressure of arterial oxygen (PaO₂), partial pressure of arterial carbon dioxide (PaCO₂), bicarbonate radical (HCO3), serum potassium (K⁺), serum calcium (Ca²⁺) indicators were detected between the two groups, and related prognostic risk factors were analyzed. Results Coronary heart disease, diabetes, hypotension, the index of WBC, ALB. GFR in the two groups were statistically significant difference (P<0.05). Compared the non-AIK group, the operation duration, intraoperative blood loss, and anesthesia duration in AKI group were significantly higher (P<0.05). SCr, BUN and length of length of hospitalization in AKI group were significantly higher (P<0.05). 24-hour urine output in AKI group were significantly lower (P<0.05). pH, HCOs and K⁺ in AKI group were significantly higher (P<0.05). PaO₂, PaCO₂, and Ca²⁺ of AKI group were significantly lower (P<0.05). The coronary heart disease, diabetes, hypotension, WBC, ALLB and eGFR, length of Length of hospitalization were independent risk factors for AKI in hip surgery in elderly patients (P<0.05). Conclusion If the elderly patients have underlying diseases involving coronary heart disease, diabetes, and hypotension before hip fracture surgeries, they would have a higher risk of post-operative AKI. The treatment for such elderly patients become more difficult and increase the risk of death which will have an impact on the prognosis recovery.

Construction and analysis of forecast nomogram on prognostic patients with bone metastases from rectal cancer

Xu Jianfa, Tan Zirui, Li Jie, Wang Miao, Wang Guiying

2021, 36(5):  446-452.  doi:10.3969/j.issn.1004-583X.2021.05.012

Asbtract ( 551 )   PDF (1487KB) ( 106 )   HTML ( 0)  

Figures and Tables | References | Related Articles | Metrics

Objective To construct and verify a forecast nomogram for 1- and 2-year survival rate of patients with bone metastasis from rectal cancer. Methods Through the SEER*Stat software, the clinical data and follow-up data of 671 patients who had diagnosis with bone metastasis in SEER database between 1973 and 2017 were included in the modeling group, and the clinical data of 108 patients with rectal cancer bone metastasis in our hospital were included as the verification group. Independent forecast factors affecting the prognostic patients with bone metastasis from rectal cancer were obtained through Multivariate Lasso regression analysis, and constructed to predict the 1- and 2-year nomogram of survival rate of patients with bone metastasis from rectal cancer. The forecast model was evaluated through C-index, clinical decision curve (DCA) and the calibration curve of nomogram prognostic model was applied to evaluate the consistency, and decision tree was drawn to help clinical diagnosis and treatment by the data of the verification group. Results Seven factors including the age, histological grade, M staging, surgery, lymph node metastasis, radiotherapy and chemotherapy were independent forecast factors for prognostic patients with bone metastasis from rectal cancer by univariate and multivariate analysis and these factors were successfully included construct the nomogram. The C-index value of the nomogram for internal validation in the modeling group was 0.75, and the C index obtained by the verification group was 0.74. Conclusion The forecast nomogram for the survival rate of prognostic patients with bone metastasis from rectal cancer constructed in this study has forecast accuracy and strong clinical applicability.

IPEX syndrome concurrent with gut-origin sepsis: A child patient report and literature review

Eamran Hossain, Tian Ya, Chen Yuan, Zhang Shaodan, Zhang Huifeng

2021, 36(5):  453-457.  doi:10.3969/j.issn.1004-583X.2021.05.013

Asbtract ( 623 )   PDF (1020KB) ( 190 )   HTML ( 0)  

Figures and Tables | References | Related Articles | Metrics

In the study, a child patient with immune dysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome concurrent with gut-origin sepsis who was admitted to our hospital was selected, we analyzed in detail the clinical manifestations, auxiliary examinations, diagnosis and treatment of his and reviewed related literature. This result shows that it is necessary to increase the awareness and attention of IPEX syndrome concurrent with gut-origin sepsis, and for children, especially infants, with special disease manifestations, such as early refractory diarrhea, multiple endocrine diseases, autoimmune phenomena, systemic inflammatory response syndrome as well as growth retardation. We may conside genetic testing for systemic immune system diseases while symptomatic treatment; effective regular treatment options such as gene therapy or allogeneic hematopoietic stem cell transplantation are helpful in achieving long-term survival.