Case report of immunodeficiency, centromeric instability, facial anomalies syndrome type 2 caused by the ZBTB24 gene mutation / 中华实用儿科临床杂志

The clinical and genetic features of a child with immunodeficiency, centromeric instability, facial anomalies syndrome type 2(ICF2)admitted to pediatrics of the First Affiliated Hospital of Shandong First Medical University in June 2017 were retrospectively analyzed and the literature was reviewed.A 13-month-old female patient with flat nasal bridge and hypertelorism presented to the hospital for recurrent infection for 1 year.Laboratory tests showed humoral immune deficiency with immunoglobulin(Ig)G, IgA and IgM.Whole-exome sequencing revealed a de novo heterozygous frameshift mutation c. 1237_1247del and a de novo heterozygous nonsense mutation c. 460A>T of ZBTB24 gene.Through searching " ICF syndrome" " immunodeficiency, centromeric instability and facial anomalies syndrome" and " ZBTB24" in CNKI, Wanfang databases and PubMed published until August 2020, a total of 13 English language literatures involving 24 children with ICF2 were searched.The most common facial anomalies were hyper-telorism, epicanthus and flat nasal bridge.Most children had recurrent respiratory and digestive tract infections.All the children had humoral immune deficiency at varying degrees.All 24 children had ZBTB24 gene mutation, 16 mutations were reported, including 6 frameshift, 5 nonsense, 5 missense mutations.ICF syndrome is a rare autosomal recessive primary immunodeficiency with classic clinical manifestations, including humoral immune deficiency and facial anomalies.It can be diagnosed by genetic analysis.

Research progress and current status of neurosystemic autoimmunity diseases / 中华检验医学杂志

The clinical manifestations of neurosystemic autoimmunity diseases are complicated and varied. Symptoms of different diseases often overlap and are not easily identified. It is very important to detect autoantibodies in serum and(or) cerebrospinal fluid for diagnosis, differential diagnosis, treatment and prediction of disease. With advances in autoantibody detection, multi-method and multi-index joint detection strategies, the results of which can provide more comprehensive disease information than single indicator detection and make diagnosis and treatment of disease more quickly and accurately, are widely used. Over the past decade, a series of pathogenic autoantibodies were identified. The discovery of these autoantibodies led to the diagnosis of many previously undiagnosed diseases. This paper reviews the research progress of autoantibodies associated with neurosystemic autoimmunity diseases, analyzes the current situation of detection in China and puts forward some suggestions in order to provide guidance for basic research and clinical work.

Interventional treatment of post-biopsy renal artery pseudoaneurysm in a child: case report and literature review / 中华儿科杂志

<p><b>OBJECTIVE</b>To investigate the characteristics,diagnosis and therapy of post-biopsy renal artery pseudoaneurysm in children and to study the clinical value of arterial embolization for traumatic renal hemorrhage when conservative treatment failed.</p><p><b>METHOD</b>Data were compiled from medical records of a child in whom renal artery pseudoaneurysm occurred after biopsy in the Provincial Hospital Affiliated to Shandong University , and the related literature was reviewed to analyze the diagnosis and treatment of such pseudoaneurysm.</p><p><b>RESULT</b>A 13-year-old boy had gross hematuria, aggravated dysuria and decreased hemoglobin 10 days after percutaneous renal biopsy. Hb decreased from 110 g/L on the first day after admission to 92 g/L on the 4th day, 83 g/L on the 7th day and the minimum to 74 g/L at the 8th day after admission. Ultrasound showed solid echogenic mass in the right renal pelvis as well as the bladder. Color Doppler ultrasound shows the red and blue rotation of blood flow in the polar capsule under the right kidney. Contrast-enhanced CT in the arterial phase showed a 0.5 cm sized renal mass with a strongly enhanced dot in the lower pole of the right kidney, suggesting a renal artery pseudoaneurysm. Haemostatic, supplement of red blood cells and blood volume and other integrative treatment of hematuria were applied for seven days, but his gross hematuria continued to be worsened. He was diagnosed as pseudoaneurysm by digital subtraction angiography (DSA) on the 19th day after renal biopsy. Superselective renal artery embolization using micro-coils and gelatin sponge particles was performed, and the blood clots were cleaned under cystoscope. Macro-haematuria and dysuria disappeared after the interventional treatment. Retrieval of reports on post-biopsy renal artery pseudoaneurysm in children by using "pseudoaneurysm, child" as the search term showed report of one case from the Chinese CNKI database and 3 cases from the PubMed database. The underlying disease was Henoch-Schonlein purpura nephritis in 3 cases and Sneedon syndrome in 1 case; clinical manifestation of gross haematuria was present in 4 cases, lumbago or pain at the site of the puncture in 2 cases, dysuria in 1 case, and fever in 2 cases.</p><p><b>CONCLUSION</b>The post-biopsy renal artery pseudoaneurysm in children is often manifested as gross hematuria, lumbago, pain at the site of the puncture, fever and dysuria, DSA can be used for definite diagnosis and the interventional treatment is effective.</p>

Analysis of the clinical characteristics of Kartagener syndrome in Chinese and foreign children / 中华儿科杂志

<p><b>OBJECTIVE</b>To analyze the clinical characteristic of Kartagener syndrome in Chinese and foreign children.</p><p><b>METHOD</b>Four cases of Kartagener syndrome diagnosed in our hospital were analyzed with literature review. The differences between Chinese and foreign children in clinical manifestations and diagnosis were compared.</p><p><b>RESULT</b>All of the cases had the following clinical manifestations: recurrent productive cough, nasosinusitis, dextrocardia, total situs inversus and bronchiectasia. Situs inversus of the airway structure was visible under the bronchoscope, and electron microscopy of the respiratory mucosa showed an abnormal ciliary ultrastructure. By using "Kartagener syndrome" and "child" as the key words, reports on 55 Chinese cases and 61 foreign cases in children were retrieved from CNKI and PubMed databases. The average age of diagnosis was 9.16 ± 3.67 years in China, which was significantly later than 7.07 ± 4.92 years in foreign countries (t=2.642, P<0.01). The main clinical manifestations were recurrent productive cough, nasosinusitis or rhinopolyp, recurrent pulmonary infection, recurrent wheezing and otitis media. Sinus imaging showed maxillary sinusitis. Dextrocardia, total situs inversus and bronchiectasia were found on thoracic and abdominal CT. The ciliary ultrastructural analysis showed shorter and missing dynein arm (6/6 cases in China and 25/27 cases in foreign) .</p><p><b>CONCLUSION</b>The clinical manifestations are recurrent upper and lower respiratory tract infection combined with dextrocardia or other situs inversus in both China and other countries. The diagnosis abroad relied more on abnormal ciliary ultrastructure observed under electron microscopy, but in China mainly relied on its typical clinical manifestations.</p>