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Anxious parents, complicated condition
On the evening of September 23, He Tanxian, attending physician of the second respiratory area of Chenzhou Children's Hospital, admitted a special patient, Xiao Jie, male, for "intermittent fever and cough for more than 20 days" in September.
In many hospitals such as the local health center, the county people's hospital and the maternal and child health hospital, there have been repeated fevers for more than ten consecutive days. The anxious parents helplessly transferred Xiao Jie to my department for treatment.
Follow up with the medical history of the parents to complain: 6 months after birth, repeated "fever, cough", but each time the local use of antibiotics after infusion treatment can get better, but this time the antibiotics changed several, is not effective, and Xiao Jie recently lost 1.5kg of weight.
Xiao Jie's parents and 2 sisters are in good health. The physical examination found that the scar on Xiao Jie's left upper arm had been festering and had not yet healed, and thrush could be seen in the mouth, which had been repeated for four months.
Shortness of breath, thick wet rales and stridor can be heard in both lungs. The lung CT of the local hospital suggests extensive double lung field lesions, and the white blood cells, neutrophils, and C-reactive protein (CRP) are significantly elevated. The child's condition is critical and complex, and it is imperative to clarify the cause of Xiao Jie's long-term fever.
Peel back the cocoon and look for the real culprit
On the second day of admission, Chief Physician Tang Yingyuan, chief physician of the department, conducted a three-level round: according to Xiao Jie's medical history and existing examination data, it was considered that it may cause severe pneumonia due to rare pathogen infection, and primary immune function defects cannot be ruled out.
After communicating with Xiao Jie's parents, in order to clarify the cause, in addition to routine examination, bronchoscopy was also improved, and the second-generation sequencing (ngs) of alveolar lavage fluid pathogens was also improved; in addition, immunoglobulins, t-cell subsets, and all-exon gene testing were improved to understand the immune status of children. Antibiotic therapy in combination with antifungal therapy was upgraded.
2021.9.27Pulmonary enhancement ct shows multiple lesions in both lungs with cavities and multiple nodules
After admission, Xiao Jie still had repeated high fevers, poor mental reactions to milk, and b ultrasound suggested that the liver, spleen and lymph nodes were obviously enlarged, the condition did not improve, and the parents were full of sorrow, and repeatedly asked about the condition and the prognosis of the child.
Keep the clouds open and see the day
On September 29, xiaojie's lavage solution ngs results came out, suggesting malnifi blue-like infection, and after adjusting the treatment with the broad-spectrum antifungal drug voriconazole, the body temperature gradually dropped to normal. On October 15, after 22 days of treatment, Xiao Jie had no fever, no cough, weight gained 1kg, and his condition improved and he was discharged from the hospital. On October 19, the sequencing results of the whole exome gene sent by the child suggested that the stat1 gene was abnormal and the primary immunodeficiency disease was confirmed.
Microscopic Malnifi blue fungus
Alveolar lavage fluid results in ngs
Sequencing of complete exon genes in peripheral blood
At this point, Xiao Jie was diagnosed with:
1. Disseminated Malnifi blue bacteria infection,
2. Primary immunodeficiency disease (stat1 gene defect),
3. Thrush. At present, the child continues to receive oral voriconazole antifungal treatment, and the condition has been followed up.
Introduction to immunodeficiency diseases
Immunodeficiency diseases include primary immunodeficiency diseases (PID) and secondary immunodeficiency diseases (such as HIV).
Pid is a class of diseases that are mainly caused by single gene mutations caused by immune cells or immune molecule defects, decreased immune function, lack of immune function 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, there are currently 10 categories of immunodeficiency diseases, which are rare diseases.
If the child has repeated infection, opportunistic infection, or serious infection does not heal, or there is early infant death in the family, there is a history of autoimmune disease, or the child has a serious adverse reaction to live vaccination, it is necessary to be vigilant against the possibility of primary immunodeficiency disease, and further improvement of immune function related tests is needed.
Respiratory symptoms such as recurrent fever and cough may be the first manifestations of immunodeficiency disorders. In the past three years, the Department of Pediatric Respiratory Diseases of the First People's Hospital of Chenzhou City has diagnosed more than 10 cases of various immunodeficiency diseases, including chronic granulomatous disease, x-linked agamma-no-gamma globulinemia, x-linked hyperigmemia, apds, stat1 gene defects, autoinflammatory diseases, AIDS and so on.
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Hunan Medical Chat Special Author: Chenzhou First People's Hospital North Branch (Children's Hospital) Respiratory District 2 Zeng Ping Pay attention to @Hunan Medical Chat for more health science information!