Red network moment November 4 news (correspondent Zeng Ping) some time ago, Chenzhou Children's Hospital Respiratory District II attending physician He Tanxian received a 9-month-old boy Xiao Jie, because of "intermittent fever, cough for more than 20 days" and a variety of antibiotic treatment ineffective to come to the doctor, the hospital through detailed examination to diagnose Xiao Jie is due to rare pathogen infection caused by severe pneumonia, and Xiao Jie's repeated infection, delay and difficult to heal the "culprit", is suffering from a rare disease - primary immune function defects, After 22 days of careful symptomatic treatment by the department, Xiao Jie's condition improved and he was discharged from the hospital.
The doctor checks Xiao Jie's condition.
Originally, when Xiao Jie was 6 months old, he repeatedly had symptoms of "fever and cough", and every time he used antibiotics in the local hospital for infusion treatment, he got better, but this time the antibiotics were changed several times, which was ineffective, and Xiao Jie's recent weight loss was 1.5 kg. After more than 10 days of continuous treatment in many hospitals such as local health centers, county people's hospitals and maternal and child health hospitals, there are still repeated fevers. Anxious Xiao Jie's parents were helplessly transferred to Chenzhou Children's Hospital for treatment.
When admitted to the hospital, Xiao Jie still had repeated high fevers, and his mental response to milk was also very poor, and b ultrasound suggested that the liver, spleen and lymph nodes were obviously enlarged. He Tanxian, the attending physician of the respiratory area of the hospital, conducted a detailed physical examination for Xiao Jie and found that the vaccination site of Xiao Jie's left upper arm had been ulcerated and had not yet healed, and thrush could be seen in the mouth, which had been repeated for 4 months, accompanied by shortness of breath, and both lungs could smell thick wet rales and wheezing sounds. In addition, the local hospital examination of lung CT showed that the double lung field lesions were extensive, and the white blood cells, neutrophils and C-reactive protein (CRP) were significantly elevated. "The long-term treatment of various infections is the cause of Xiao Jie's long-term fever." He Tanxian realized the particularity of Xiao Jie's condition and asked Tang Yingyuan, the director of the department, to further diagnose and treat.
After tang Yingyuan examined Xiao Jie's medical history and existing examination data in detail, he considered that Xiao Jie may have caused severe pneumonia due to a rare pathogen infection, and the initiator of all this may be a disease called "primary immune deficiency". After communicating with Xiao Jie's parents about the condition, Tang Yingyuan immediately adopted the second generation sequencing (ngs) of the alveolar lavage fluid pathogen, and improved bronchoscopy, immunoglobulin, T cell subset, and total exon gene testing, and the test results suggested: Malnifi blue bacteria infection, stat1 gene abnormality, thrush, Xiao Jie was finally diagnosed with primary immunodeficiency disease.
After a clear diagnosis, the hospital upgraded antibiotic treatment combined with antifungal treatment, and after 22 days of careful treatment, Xiao Jie's fever and cough symptoms all disappeared, and his weight also increased by 1 kg, and his condition improved and he was discharged from the hospital. At present, Xiao Jie continues to give oral voriconazole antifungal treatment, and his condition has been followed up.
Tang Yingyuan introduced that immunodeficiency diseases are rare, and there are no obvious regional and gender differences in the incidence. Immunodeficiency diseases include primary immunodeficiency diseases (PID) and secondary immunodeficiency diseases (such as HIV). Pid is a type of immunodeficiency caused by congenital factors, mainly caused by single gene mutations caused by immune cells or immune molecule defects, immune function is reduced, absent or immunomodulatory function imbalance, clinical manifestations of the body's anti-infection immune function is reduced, susceptible to tumors, autoimmune diseases, allergic diseases, inflammatory diseases of a group of diseases, mostly in infancy and early childhood. It is estimated that there are at least 1500 primary immunodeficiency diseases, and the incidence in the population is 1/500 to 1/2000.
Tang Yingyuan reminded that repeated respiratory symptoms such as fever and cough may be the first manifestations of immunodeficiency diseases. If the child has repeated infections, severe infections do not heal, or there is early infant death in the family, there is a history of autoimmune diseases, or the child has serious adverse reactions to live vaccination, it is necessary to be vigilant against the possibility of primary immunodeficiency diseases, and further improvement of immune function related tests is needed.
Patients with autoimmune diseases need long-term continuous treatment, and the principle of treating immunocompromised patients is to protect patients, reduce contact with the source of infection, and try to prevent infection. Patients who have already developed infections need to take early measures such as drug therapy, alternative therapy, and surgical treatment to control the disease, such as the use of antibiotics for anti-infection therapy to prevent the deterioration of the condition and cause greater damage.