Thrombolytic therapy for 2 children with Mycoplasma pneumoniae pneumonia complicated with intracardiac thrombosis and pulmonary embolism / 中华实用儿科临床杂志

The clinical data of 2 children with refractory Mycoplasma pneumoniae pneumonia complicated with intracardiac thrombosis and pulmonary embolism, treated in Tianjin Children′s Hospital from July 2019 to January 2020, were analyzed retrospectively.One patient was an 8-year-old girl, who was admitted to the hospital mainly because of " fever for 5 days and cough for 2 days" . The other patient was a 7-year-old boy, who was admitted due to " intermittent fever with cough for 24 days and chest pain for 1 day" . Both children were complicated with elevated D-dimer levels and positive antiphospholipid antibody.During the treatment, right cardiac thrombosis and pulmonary embolism occurred in both cases, and the manifestations of thrombosis related symptoms were not typical.After the patients received anticoagulation treatment and thrombolytic therapy with urokinase, the cardiac thrombus dissipated and the pulmonary embolism improved.For refractory Mycoplasma pneumoniae pneumonia complicated with intracardiac thrombosis and pulmonary embolism, thrombolytic therapy can be applied to some children in addition to anticoagulant therapy.

Chronic granulomatous disease caused by compound heterozygous mutation in NCF2 gene: case report and literature review / 中华实用儿科临床杂志

Objective:To explore the relationship between the type of mutation and clinical features, prognosis, and clinical characteristics of chronic granulomatous disease (CGD) caused by compound heterozygous mutations in the NCF2 gene in children. Methods:The clinical data of 1 case of neonatal CGD caused by compound heterozygous mutations of NCF2 gene at Tianjin Children′s Hospital in August 2019 was analyzed, and domestic and international literatures were searched to summarize the clinical characteristics, gene mutation type and prognosis of CGD caused by NCF2 mutation. Results:The diagnosis of CGD was confirmed by the presence of compound heterozygous mutations c. 196_197insA (p.Arg66Glnfs23X) and c. 1180T>G (p.Tyr394Asp) in the NCF2 gene, accompanied with the clinical manifestations of fever, cough, multiple clumps and nodules in the chest CT at 25 days after birth, and the neutrophil respiratory burst test stimulation index(SI) 23.This new mutation was not reported in the Human Genetic Mutation Database.The child had a residual portion of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase activity and was followed up until the age of 9 months with an antifungal drug without recurrent infection.A total of 101 cases of CGD patients with NCF2 gene mutation were reported in domestic and international databases.Totally, 33 cases had SI results, with 22 cases below 3, 11 cases above 3, and 8 cases of missense mutations. Conclusions:c. 196_197insA and c. 1180T>G are new mutations in NCF2 gene that can lead to CGD.CGD patients containing missense mutations in the NCF2 gene may have more residual NADPH oxidase activity.