Objective:To summarize the clinical features of 14 cases with clinically and genetically diagnosed progressive pseudorheumatoid dysplasia(PPRD) and analyze the characteristics of joint lesions caused by PPRD to provide references for clinical diagnosis and treatment of PPRD.Methods:A retrospective analysis was made on the clinical data and genetic test data of 14 patients admitted to Children′s Hospital, Capital Institute of Pediatrics and cooperative units, from December 2017 to September 2023.An observational retrospective analysis was performed on hospitalization and follow-up data, and correlation factors were analyzed using the Kendall correlation test.Results:The 14 patients, including 6 males and 8 females, were all Chinese Han children.The average age of onset was 6.12 years(2-11 years), the average age of diagnosis was 10.61 years old(5-17 years old), and the average duration of the disease was 4.46 years(0.5-6.0 years) at diagnosis.The number of joint involvements ranged from 4 to 14, with an average of 9.20.There were 12 patients with claudication as the first symptom.All these 14 children had limited hip mobility and no obvious hip pain.The hip joint imaging indicated that space narrowing occurred in 11 cases, femoral neck shortening in 2 cases, femoral head displacement in 4 cases, and articular surface sclerosis, cystic degeneration or bone destruction in 8 cases.The joints of the four limbs were mainly manifested as enlargement of the proximal interphalangeal joints and metacarpophalangeal joints of both hands.The other joints were knees(11 cases), elbows(8 cases), wrists(7 cases) and ankles(5 cases) in the order of easy involvement, and the shoulder joint was less involved(1 case).The spine was mainly characterized by changes in the curvature, and limited movement was found in 8 cases.Thoracic and lumbar spines were mainly involved(13 cases), while cervical involvement was rare(1 case).The duration of the disease at diagnosis was positively correlated with the number of joint involvements and the number of joint mobility limitations( r=0.584, 0.671; P=0.007, 0.002).In this study, 8 children were misdiagnosed as juvenile idiopathic arthritis, and the longest misdiagnosis time was 6 years.All the 14 children had CCN6 gene mutations, including 10 complex heterozygous mutations and 4 homozygous mutations.Five children had c. 342T>G and c. 667T>G, 4 children had c. 589 + 2(IVS4)T>C, 3 children had c. 866dup, and 2 children had c. 136C>T and c. 624dupA. Conclusions:PPRD is characterized by multiple joint involvements, among which hip involvement is the most common.The lesions are serious and easily misdiagnosed as juvenile idiopathic arthritis.The number of affected joints increases gradually with the prolongation of the disease course.

Clinical data of a child with mevalonic aciduria (MA) who underwent stem cell transplantation (SCT) in the Department of Rheumatology and Immunology, Children′s Hospital, Capital Institute of Pediatrics in March 2019 were retrospectively analyzed.A girl aged 2 years and 11 months old presented with recurrent fever for 2 years and 11 months and swelling of both knees for 9 months was enrolled.The child also had specific facial features and development delay.The urinary mevalonic acid and inflammatory factor levels were increased.The whole exome sequencing showed compound heterozygous mutations c. 439G>A (p.A147T) and c. 976G>A(p.G326R) in the MVK gene.After achieving a partial remission following the treatment of Tocilizumab, the patient was treated with SCT and thus yielded the complete remission.Through literature review of a total of 39 children with MA, most of cases suffer MA since the infancy.All systems can be affected by MA.Clinical manifestations of the nervous system abnormalities, recurrent fever, hepatosplenomegaly, delayed physical development, gastrointestinal symptoms, and eye involvement were helpful for the diagnosis of MA.To date, 10 cases (including one case in this study) of MA have been reported to receive SCT after achieving a partial remission of other treatment, and 7 finally achieve a complete remission.This case report provided references that SCT is an effective treatment to children with MA who fail to achieve a complete remission after conventional treatment.

Objective:To analyze the clinical characteristics of infantile Takayasu Arteritis (TAK) complicated with cardiac involvements.Methods:The clinical data and cardiac lesions of infantile TAK were collected retrospectively, and the clinical characteristics of the disease were analyzed and summarized. Mainly using decriptive statistical methods.Results:In these 20 cases, 16 cases (80%) had cardiac involvements, only 2 cases had related symptoms. The common lesions were coronary artery lesion (CAL), valvular disease, and elevated myocardial enzymes, while the rare lesions were arrhythmia, pericardial effusion, hypertensive heart disease, and heart failure. One case had acute heart failure, which was systolic heart failure and was accompanied by hypertensive heart disease. All 14 patients with CAL were found by conventional coronary ultrasound screening. A total of 39 CAL were found, all of which were coronary artery dilation, and the left main coronary artery was involved. Five patients had heart valve disease, all of them were valve insufficiency. The involved valves were mitral and tricuspid valves, and one of them was severe insufficiency. Arrhythmias were found in 2 cases, of which P1 was found to have paroxysmal atrial tachycardia with high atrioventricular block at 3 months. All 20 children survived and were in stable condition after being treat with biological agents and/or glucocorticoids. A case of hypertensive heart disease complicated with heart failure was followed up for 4 years, and the cardiac function and blood pressure returned to normal. Fourteen children with CAL lesions were given oral aspirin disease, the CALs disappeared in 10 cases and retracted in 4 cases. During the follow-up of 5 children with heart valves, insufficiency disappeared in 4 cases and improved in 1. No child underwent valve replacement during the follow-up. One of the children with arrhythmia was treated with antiarrhythmic drugs. After treatment, the arrhythmia disappeared. Now they have been followed up for 5 years without recurrence.Conclusion:Infantile TAK has a high incidence of heart involvement, with extensive lesions but insidious clinical symptoms. CALs are common, and heart failure is rare. It should be evaluated and treated as early as possible.

Objective:To investigate the clinical features, treatment and follow-up of children with early-onset antinuclear antibody (ANA)-positive juvenile idiopathic arthritis (JIA).Methods:Eighty-six oligoarticular JIA patients with early-onset arthritis (≤6 years old) admitted to the Children′s Hospital Affiliated to Capital Institute of Pediatrics from January 2017 to December 2019 were included in this study. According to ANA titer, these patients were divided into two groups: ANA-positive group (44 cases) and ANA-negative group (42 cases). Clinical data including demographic data, clinical features, laboratory testing results, treatment and follow-up data were statistically analyzed.Results:The ratio of male to female was 7∶37 in the ANA-positive group and 15∶27 in the ANA-negative group and there was significant difference between the two groups ( P=0.035). The proportions of patients with increased C-reactive protein and erythrocyte sedimentation rate were higher in the ANA-positive group than in the ANA-negative group [18.18% (8/44) vs 16.67% (7/42) and 29.55% (13/44) vs 19.05% (8/42), both P>0.05]. The most commonly involved joints in the ANA-positive group were knee (95.45%, 42/44), ankle (20.45%, 9/44) and wrist (18.18%, 8/44), and unilateral asymmetric joint involvement accounted for 81.8% (36/44). In the ANA-negative group, the involved joints were knee (85.71%, 36/42), ankle (14.29%, 6/42), wrist (14.29%, 6/42) and hip (11.90%, 5/42), and 27 out of the 42 cases (64.29%) had unilateral asymmetric joint involvement. There was no significant difference in the above indexes between the two groups (all P>0.05). There were seven cases (15.91%) with uveitis in the ANA-positive group and two cases (4.76%) in the ANA-negative group, and the difference between the two groups was significant ( P=0.045). Before treatment, the ANA-positive group had a significantly higher disease activity score (JADAS27) than the ANA-negative group (14.43±2.87 vs 12.09±3.32, P=0.002). After treatment, the JADAS27 score in both groups decreased (both P<0.05). After six months of treatment, the two groups had similar clinical remission rates [70.45% (31/44) vs 76.19% (32/42), P>0.05]. Conclusions:Early-onset ANA-positive JIA was more common in female children, and asymmetric knee joint involvement was the most common clinical manifestation. The incidence of ophthalmic complications was high, and ophthalmological examination should be performed more frequently during follow-up. The prognosis of early-onset ANA-positive JIA was good with early treatment. Positive ANA was not a risk factor for poor prognosis.

Objective:To summarize the clinical manifestations and magnetic resonance imaging (MRI) features of knee joint involvement in children with Juvenile idiopathic arthritis (JIA).Methods:The clinical and laboratory data of 110 JIA patients with knee involvement in the Children′s Hospital Affiliated to Capital Institute of Pediatrics from January 2017 to October 2019 were collected and scored according to the JIA MRI scoring system. The clinical indicators, course of disease and MRI scores of different subtypes of JIA were compared, and the MRI improvement of the affected knee joint before and after treatment was evaluated.Results:Among the 110 JIA patients, 35 cases (31.8%) had infections, including 9 cases (8.2%) with tuberculosis infection, 12 cases (10.9%) with EB virus infection, and 14 cases (12.7%) with elevated anti-streptolysin O; there were 101 cases (91.8%) of synovial hyperplasia, 99 cases (90.0%) of joint effusion, 18 cases (16.4%) of bone marrow edema, 16 cases (14.6%) of cartilage injury, and 2 cases (1.2%) of bone erosion. Synovial hyperplasia and joint effusion were the main MRI findings of the affected knee in each subtype, and the suprapatellar bursa is the most common involved site. After treatment, the signs of synovial hyperplasia, joint effusion, and bone marrow edema improved, and the MRI scores significantly decreased compared with those before treatment ( P=0.001, 0.001, 0.001, all P<0.05), cartilage damage and bone destruction were not improved. Conclusions:During the diagnosis and treatment of JIA, attention should be paid to the screening of various pathogenic infections and treatment. MRI imaging of knee joint involvement in JIA mainly shows synovial hyperplasia and joint effusion. MRI score can help further understanding of joint lesions, and it is also an important reference index for treatment evaluation of JIA children.

Objective:To observe the clinical efficacy of intra-articular injection with Triamcinolone acetonide on the treatment of juvenile idiopathic arthritis (JIA).Methods:The clinical data of 26 children diagnosed with JIA undergoing the intra-articular injection of Triamcinolone acetonide for the joints with obvious swelling and pain at the Children′s Hospital Affiliated to Capital Institute of Pediatrics from October 2018 to December 2019 who were retrospectively analyzed.Erythrocyte sedimentation rate (ESR) and C-reactive protein(CRP) were tested before and after the application of Triamcinolone acetonide.Detailed clinical manifestations were recorded.The nonparametric Kruskal- Wallis test was used to compare the differences in clinical evaluation indicators and changes in laboratory tests at diffe-rent treatment times. Results:Among the 26 children, 8 were boys and 18 were girls.After the intra-articular injection of Triamcinolone acetonide, 9 cases (34.62%) achieved complete remission, 15 cases(57.69%) achieved partial remission, and 2 cases (7.69%) were not responsive to the intra-articular injection.The overall therapeutic efficacy was 92.31%.Compared with pre-treatment period, from 4 weeks after treatment, assessment of disease activity by the physicians and parents of the children was significantly improved after 4-week treatment, and the number of active joints, ESR and CRP and the Juvenile Arthritis Disease Activity Score with 27 joints (JADAS 27) gradually decreased, and the differences were statistically significant (all P<0.05). No adverse drug reactions were seen during the treatment and follow-up period. Conclusions:Intra-articular injection of Triamcinolone acetonide is effective in contro-lling joint symptoms of JIA with less adverse events.

Objective:To summarize the clinical features of chronic non-bacterial osteomyelitis (CNO) in children.Methods:Clinical data of 8 CNO patients admitted to the Department of Rheumatology and Immunology, Children′s Hospital Affiliated to Capital Institute of Pediatrics from March 2014 to December 2020 were retrospectively analyzed.The clinical characteristics of 8 children with CNO were summarized and compared with those reported abroad.Results:A total of 8 CNO patients were recruited, involving 3 males and 5 females with the mean age of onset (7.2±3.2)years, and the average diagnosis time 25.9 months, respectively.The common clinical symptoms included bone pain (7 cases, 87.5%), arthritis (4 cases, 50.0%), and fever (3 cases, 37.5%). The main manifestations on X-ray and CT scans were bone destruction and progressive osteosclerosis.Magnetic resonance imaging (MRI) showed bone marrow edema, periostitis, soft tissue swelling, and enhancement.All of them had more than one site of bone involvement.Seven patients(87.5%) had bilateral bone involvement, with the most common site of tibia (22.0%), followed by femur (17.1%) and mandible (9.8%). Bone biopsy was performed in 8 patients, and 4 cases showed osteonecrosis, 4 cases showed bone fibrosis and 2 cases showed osteomyelitis.The etiological examination of the bone was negative.Eight children received non-steroid anti-inflammatory drugs alone or in combination with glucocorticoids, disease-modifying antirheumatic drugs (DMARDs), bisphosphonates or tumor necrosis factor-α(TNF-α) antagonists.After treatment, the patients were followed up for 3 months to 2 years.Eight children improved.Their inflammatory indexes were normal, and had no disability, teratology or multiple organ damage.Conclusions:Pediatric CNO is more common in children of school age, with a long course of disease.The main manifestations are multi-site bone pain and arthritis.Imaging studies indicate multiple bone involvement, which is more common at lower extremities.Non-steroids anti-inflammatory drugs, glucocorticoids, DMARDs, bisphosphonates and TNF-α antagonists are effective to CNO.

Objective:To investigate the clinical features, diagnosis and treatment of systemic juvenile idiopathic arthritis (SJIA) complicated with macrophage activation syndrome (MAS).Methods:From January 1st, 2018 to January 1st, 2020, 7 cases of SJIA-MAS were diagnosed. Their clinical and laboratory data were collected and summarized.Results:In these 7 cases, 2 were males and 5 were females, the ratio of male to female was 2∶5. The age range was 11 months to 2 years old. The course of disease was 14 to 32 days. The clinical manifestations included fever and rash in 7 without arthritis; hepatomegaly, splenomegaly and lymphadenopathy in 7; hematological involvement in 7; nervous system involvement in 2; digestive system involvement in 7; respiratory system involvement in 7; cardiovascular involvement in 3. White blood cell was decreased in 1 case, platelet was decreased in 1 case and hemoglobin was decreased in 7 cases. Ferritin, triglyceride, alanine transaminas and aspartate aminotransferase were increased in 7 cases, fibrinogen was significantly decreased in 7 cases, and direct bilirubin was increased in 4 cases. IL-2R was significantly increased. Hemophagocytosis was observed in bone marrow of 4 cases. Cerebrospinal fluid protein was 2 005 mg/L in 1 case. All the 7 cases were tested for exon genes, and no pathogenic mutation was found. All of the 7 cases showed lung lesions in chest CT scan. Multiple demyelinating lesions were found in 1 case by head magnetic resonance imaging. One case was treated with high-dose intravenous methylprednisolone combined with IL-6 receptor antagonist(tocilizumab). The other 6 cases were treated with high-dose intravenous methylprednisolone combined with cyclosporine A (CsA). Two cases were treated with Janus kinases inhibitor(tofacitinib). After treatment, 7 cases got relieved, no death, no recurrence oocurred during the follow-up.Conclusion:Acute onset, multiple organ involvement and no joint inflammation are prominent in MAS of infants and toddlers. High fever, proressive reduction of blood cells and increase of SF are significant in SJIA-MAS. High dose glucocorticoid combined with CsA can benefit in most cases, and some severe cases need to be treated with biological agents.

Objective:To summarize the clinical characteristics of children with rheumatic disease combined with endocrine disorder.Methods:A retrospective analysis was performed on the clinical data, including sex, age, clinical presentation, laboratory tests, treatment and outcome, of 13 patients with rheumatic diseases combined with endocrine disorder, who were admitted to our department in Children′s Hospital, Capital Institute of Pediatrics from January 2014 to December 2020.Results:Among the 13 cases, 3 were males and 10 were females, without family history. Their age was (10±4) years. And the average course of disease was 4.1 months. Eight of them were diagnosed with systemic lupus erythematosus (JSLE), 2 with juvenile idiopathic arthritis (JIA), 1 with childhood vasculitis, 1 with juvenile-onset systemic sclerosis (JSSc) and 1 had juvenile dermatomyositis (JDM). Regarding the initial presentation, 10 cases had symptoms of rheumatic disease, 2 had polydipsia and polyuria, and 1 had goiter. All the 13 patients had multiple system involvement. Regarding endocrine disorder, 10 had thyroiditis or subclinical thyroiditis, 4 had diabetes mellitus and one had both thyroid and pancreas involvement. Thyroid stimulating hormone in 10 patient with thyroid involvment was 19.6 (5.2-34.0) mU/L, and their total thyroxine was 75.3 (45.2-105.4) nmol/L. Besides, thyroid peroxidase antibody or thyroglobulin antibody was positive in 7 cases. The blood glucose of 4 children with pancreatic injury was 25.0 (17.0-33.0) mmol/L, and C-peptide was 0.4 (0.3-0.5) mg/L. Glutamate dehydrogenase antibody, protein tyrosine phosphatase antibody and zinc transporter 8 antibody were positive in two cases. After treatement with immunosuppressant or immunoglobulin combined with glucocorticoid or nonsteroidal antiinflammatory drugs for rheumatic symptoms, and levothyroxine or insulin for endocrine diseases, they were all followed up for more than 6 months and maintained clinical stability.Conclusions:Rheumatic diseases in children can be complicated with endocrine disorders, and the involved organs are usually thyroid and pancreas. In children with rheumatic disease, thyroid injury usually has subtle onset, whereas pancreas injury develops rapidly, even life-threatening. Insulin should be used persistently under the instruction of endocrinologist.

Objective: To improve the understanding and diagnosis and treatment level of infant with Takayasu arteritis (TA) by analyzing the clinical features of 14 pediatric patients and reviewing related articles. Methods: The clinical and follow-up data of infants with TA who were admitted to the Children′s Hospital Affiliated to Capital Institute of Pediatrics between July 2016 and May 2019 were retrospectively analyzed.By reviewing related articles, the clinical features of this disease were summarized. Results: The age of 14 patients (including 6 males and 8 females) were between 1 month and 23 days and 28 months.The most common clinical manifestations were fever in 10 cases (71.4%), hypertension in 9 cases (64.3%), weak or no pulse in 5 cases (35.7%). According to the clinical type of lesion vessels, 11 cases (78.5%) were generalized type, 3 cases (21.4%) were brachiocephalic artery type, and there was no thoracic abdominal aorta or single pulmonary artery type in this group.Among 14 infants with TA, 12 cases had common carotid artery, carotid artery, subclavian artery, coronary artery and its branches (anterior descending branch, circumflex branch) involved (85.7%); 11 cases had renal artery involved (78.6%); 9 cases had radial artery involved (64.2%); 8 cases had abdominal aorta involved (57.1%); 6 cases had descending aorta involved (42.9%); 6 cases had thoracic aorta involved (42.9%); 6 cases had superior mesenteric artery involved (42.9%); 5 cases had femoral artery involved (35.7%); 5 cases had pulmonary artery involved (35.7%); and 4 cases had brachial artery involved (28.6%). In those 14 patients, 11 cases were misdiagnosed, and 3 cases had unclear diagnosis, with misdiagnosis duration of 18 days to 2 months.In misdiagnosed cases, 8 cases were misdiagnosed as atypical Kawasaki disease.Among those 14 cases, the ranges of most lesions were gradually decreased, and the slightly involved vessels even completely returned to normal state after treatment in 7 cases.The vascular imaging showed no significant exacerbation or improvement in 4 cases.Nine cases developed hypertension, the blood pressure of whom could be controlled within normal range with hypotensive drugs which could not be interrupted.Physical examination found weak or no pulse in 5 cases who were not improved.Among 14 patients, 7 cases showed normal development, while the height and body mass of another 7 cases were the 25^th percentile below those of normal children of the same age.All 14 patients were followed up for 2-22 months and received regular treatment without recurrence. Conclusions TA patients aged less than 3 years tend to have more blood vessels involved, be in serious condition and have higher rate of misdiagnosis.The disease can be controlled quickly after treatment, but vascular diseases may be developed easily.Some patients have a poor prognosis.