Beijing Children's Hospital affiliated to the Capital Medical University set up a three-tiered system for hemophilia and explore solutions for local and remote referral modes.Through the establishment of electronic database,improving drug management,assisting medical insurance reimbursement and other auxiliary measures,it smooths the two-way referral path of children with hemophilia.It can rationally allocate medical resources,promote the development of local professional medical ability,make rational use of rare disease drugs,improve the efficiency of medical insurance funds,strengthen the service capability of children with rare diseases through the joint reform of three medical systems,and ensure the treatment of difficult and severe child patients,improve the accessibility of high-quality diagnosis and treatment,effectively reduce the financial burden of patients.

Objective:To analyze the clinical characteristics of eosinophilic lung diseases(ELD) in children to enhance pediatricians′ understanding of ELD.Methods:In this retrospective cross-sectional study, a total of 149 children with ELD were recruited from Beijing Children′s Hospital, Capital Medical University between April 1, 2007 and March 31, 2022.Chi-square test, Fisher′s exact test, Mann-Whitney U test and Kruskal-Wallis test were used to analyze data and conclude clinical characteristics.Spearman correlation was used to analyze the correlation between eosinophils in peripheral blood and bronchoalveolar lavage fluid.Chi-square test and Kappa consistency test were used to compare the differences and consistency in diagnostic results between bronchoalveolar lavage fluid or lung biopsy and eosinophil elevation with chest imaging abnormalities. Results:(1)The isolated lung involvement was mostly caused by allergic bronchopulmonary aspergillosis(9 patients), and other system involvement by idiopathic hypereosinophilic syndrome(89 patients).(2)The main respiratory manifestations included coughing(90 cases, 60.4%) and expectoration(41 cases, 27.5%), while 23.5%(35 cases) of patients had no respiratory symptoms; 50.3% had digestive system involvement, and 40.9% had skin involvement.These were the two most commonly affected organs.(3)Spearman correlation was performed between eosinophils in peripheral blood and bronchoalveolar lavage fluid( r=0.3, P<0.05).Chi-square test was performed to compare ELD diagnosed by bronchoalveolar lavage fluid or lung biopsy with peripheral blood eosinophilia accompanied by abnormal chest imaging( P<0.05).Kappa consistency test(Kappa<0.2) showed poor consistency between the two diagnostic methods. Conclusions:ELD are present in children, and multiple etiologies may be pathogenic.Among children with ELD, the isolated lung involvement is mainly caused by allergic bronchopulmonary aspergillosis.The digestive system and skin are the most commonly affected organs, except for lungs.The correlation between eosinophil levels in peripheral blood and bronchoalveolar lavage fluid is poor.

Objective To investigate the status quo of family treatment needs of hemophilia in children,and analyze its influencing factors.Methods The convenience sampling method was adopted.The parents of children patients with hemophilia registered on the xueyou website(web.bjxueyou.cn)from June to July 2023 were selected as the research subjects.The survey was conducted in the form of electronic questionnaires pushed by mobile phone text messages.The family treatment needs for hemophilia in children and the influen-cing factors were analyzed.Results A total of 430 parents of children with hemophilia filled in the question-naire,and 409 valid questionnaires were collected,with an effective recovery rate of 95.12％.In the family treatment needs,there were 389 cases(95.11％)of first aid management need of the children patients with hemophilia,386 cases(94.38％)of pain management need,383 cases(93.64％)of bleeding health education need,382 cases(93.40％)of blood vessel protection need,380 cases(92.91％)disease and treatment related records need,375 cases(91.69％)of psychological care need,369 cases(90.22％)of family treatment basic knowledge need,362 cases(88.51％)of self-injection related operations need and 360 cases(88.02％)of daily life guidance need.The multivariate logistic regression analysis results showed that family monthly income 10 000-＜15 000 Yuan(OR=4.297),family monthly income ≥15 000 Yuan and degree in disease severity(OR=3.609)were the positive stimulative factors of family treatment need in children patients with hemo-philia(P＜0.05),the parental cultural degree being undergraduate or above(OR=0.186)and drug adminis-tration tool being PICC or transfusion harbor(OR=0.113)were the negative interventional factors of family treatment need in children patients with hemophilia(P＜0.05).Conclusion The family treatment need in the children patients with hemophilia is high,and it is needed to conduct the orientation health education according to the family characteristics of different children patients in order to increase the family treatment level.

Hereditary thrombocytopenia(HT)is a hemorrhagic disease characterized by thrombocytopenia caused by genetic variation.HT can be manifested as simple thrombocytopenia or combined syndrome, and its clinical manifestations are complex.It often occurs in children.The unique clinical characteristics of HT are platelet dysfunction, unstable course of the disease and susceptibility to other diseases.Due to different pathogenic genes, the treatment and prognosis of HT are diverse.The evaluation of hemorrhage in the clinical management of HT children is very important.In addition, platelet transfusion, thrombopoietin receptor agonists, hematopoietic stem cell transplantation and gene therapy also supply new ideas for HT treatment.This review summarized the current research progress on HT, in order to help clinicians comprehensively identify HT and take active and effective treatment programs.

Objective:To analyze the clinical manifestations, genetic variations, diagnosis and treatment of children with inherited thrombophilia(IT).Methods:Retrospective study.Children with IT treated in Department of Respiratory Diseases 1 of Beijing Children′s Hospital, Capital Medical University from October 2016 to August 2021 were included in the study and followed up.Results:A total of 5 children met the inclusion criteria, with 3 boys and 2 girls; the age of diagnosis ranged from 7 years to 13 years and 6 months.There were 2 cases of protein C deficiency, 1 case of congenital protein S deficiency, 1 case of activated protein C resistance and 1 case of congenital afibrinogenemia.All 5 cases had pulmonary embolism, 2 cases had deep venous thrombosis of lower limbs, and 1 case had cardiac thrombosis and arterial embolism.The level of protein C was significantly decreased in 1 case, and the level of protein S in 1 case was significantly decreased in the laboratory test of thrombophilia; 2 cases were positive for antiphospholipid antibodies in the acute phase, but negative after 3-6 months of re-examination.Genetic analysis showed 2 cases of PROC gene mutation, 1 case of PROSI gene mutation, 1 case of F5 gene mutation, and 1 case of FGA gene mutation.All children were treated with anticoagulation drugs for long-term, including 4 patients with Warfarin and 1 patient with Rivaroxaban.The follow-up time ranged from 3 months to 5 years.During the follow-up, 1 patient experienced thrombosis recurrence due to infection incentives 1 month after discontinuing anticoagulant drugs on his own. Conclusions:The clinical manifestations of children with IT are the same as those of adults, mainly including venous thromboembolism(VTE); there are limitations in laboratory detection of thrombophilia, and gene analysis is of great significance.Children diagnosed with IT need long-term anticoagulant therapy to reduce the recurrence of VTE.

Immune thrombocytopenia is a common bleeding disease characterized by isolated thrombocytopenia.Some patients last for more than 12 months and suffer from chronic immune thrombocytopenia(CITP). The pathogenesis of CITP is complex, and the traditional first-line has little improvement.In recent years, researches on second-line treatments(thrombopoietin and its receptor agonists, rituximab and splenectomy), immunosuppressive agents, all-trans retinoic acid, atorvastatin, and hematopoietic stem cell transplantation have provided new ideas for the treatment of CITP.This review summarizes the recent progress in the treatments of CITP and will be helpful for individualized treatment.

Being a hereditary bleeding disorder, hemophilia is characterized by spontaneous bleeding, especially joint bleeding. The treatment outcome is a comprehensive evaluation system of the following three aspects: bleeding, musculoskeletal structure (imaging), and function-activity participation. Multidisciplinary testing and corresponding scales are needed in the assessment. Among them, the quality of life assessment of hemophilia patients is particularly important, through general questionnaires and hemophilia-specific questionnaires. Canadian hemophilia outcomes-Kids' life assessment tool(CHO-KLAT), a special quality of life assessment tool for children with hemophilia, is the most widely used. This paper briefly describes the development and application of comprehensive evaluation system of the children with the disease.

Hereditary thrombotic thrombocytopenic purpura (hTTP) in children is a rare but severe and fatal thrombotic microangiopathy. The etiology of the disease is the persistent severe deficiency of the enzyme ADAMTS13 gene mutation, resulting in microangiopathic hemolytic anemia, thrombocytopenia, neuropsychiatric symptoms, fever, and renal involvement. Different from adults, children with hTTP present earlier onset of the disease and are more likely to develop long-term complications in brain and kidney, so that the need for preventive replacement therapy is more urgent. This article reviews the research progress of hTTP in children.

A 6-year-old girl presented with recurrent skin rash at the initial stage, recent joint pain, and neutrophilia was found during a routine blood test. After a multidisciplinary case discussion, she was diagnosed with chronic neutrophil leukemia, and the symptoms were relieved after hydroxyurea and luxolitinib treatment. She received the allogeneic hematopoietic stem cell transplantation subsequently. At present, she is in stable condition and under follow-up. Chronic neutrophil leukemia is a rare disease, which rarely occurs in children. It is more difficult to diagnose in patients with skin rash as the first manifestation. The diagnosis and treatment of this case reflects the important role of multidisciplinary cooperation in the diagnosis and treatment of difficult and rare diseases.

Objective:To analyze the clinical characteristics and diagnosis and treatment of children with Kasabach-Merritt phenomenon (KMP).Methods:A retrospective analysis was conducted on the clinical data and follow-up data of 8 patients diagnosed KMP in Beijing Children′s Hospital, Capital Medical University from January 2016 to January 2019.The clinical data included laboratory examination, diagnosis, treatment and prognosis.Results:Among the 8 children with KMP, 6 cases were male and 2 cases were female.The median onset age was 4 (0-17) months, 2 cases of neonatal onset.The median onset to the diagnosis time was 59 (34-140) days; 6 cases with bone destruction; 6 cases had misdiagnosis and mistreatment history, they were misdiagnosed as idiopathic thrombocytopenic purpura, Evans syndrome, abnormal bone and joint development; 4 cases were Kaposiform hemangioendothelioma; 8 cases were used alone or combined with the application of hormones, Sirolimus, and Vincristine, 7 patients underwent interventional therapy.All patients survived with a median follow-up period of 487 (112-1 033) days.Median time of platelet count returned to normal was 24.5 (7-60) days, and median time of fibrinogen returned to normal was 20 (7-30) days.Median time of D-dimer dropped to a normal was 105 (40-240) days.Conclusions:Children with concurrent platelet count and coagulation abnormalities should be considered with KMP.Doctors need to identify the potential visceral vascular lesions.Early diagnosis and treatment are important, which can improve the clinical prognosis of patients.