Objective To study features of clinical manifestation,pathology and treatment effects of idiopathic membranous nephropathy(IMN).Methods A retrospective study was performed in patients with membranous nephropathy through renal biopsy diagnosis in Beijing Children's Hospital Affiliated to Capital Medical University from November 2009 to February 2013.Patients were diagnosed according to renal biopsy apart from hepatitis B virus-associated glomerulonephritis,Henoch-Schonlein purpura nephritis,lupus nephritis,tumor and drug associated nephritis.The study summed the clinical and pathological features of IMN and evaluated the effect of treatment according the follow up.Results (1) There were 13 patients,with the ratio of male and female being 1.0 ∶ 1.6,among them 1 patient was younger than 6 years old,3 cases were between 6 and 12 years old,and 9 cases were elder than 12 years old.Nine patients were nephrotic syndrome,and 3 patients had renal insufficiency.(2)Ten patients had infection,among them 5 cases were upper respiratory infection with agent unfound,4 patients were mcoplasma infection,1 patient was influenza B virus infection,1 patient had positive result of Hepatitis B surface antibody(HBsAb) and Hepatitis B core antibody (HBcAb),and 2 patients had positive result of purified protein derivative (PPD).(3)Pathological feature of IMN was atypical membranous nephropathy.Atypical membranous nephropathy was characterized by an irregular,thickened glomerular basement membrane(GBM),mesangial cells,and a mesangial matrix with mild to moderate hyperplasia.Immune complexes were stained in the subepithelial region,GBM,and mesangial region under light microscopy.Electron microscopy showed various sizes,density,and shapes of electron-dense deposits in multiple regions.The cases of immunofluorescence were 13 for IgG,10 for C3,9 for IgM,9 for C1q,5 for IgA,2 for C4,and 0 for fibrinogen.Seven patients were strongly positive(3 + and above) for IgG and one patient was strongly positive for C3.(4)Seven patients had complete remission,three patients had partial remission,and three patients had non-remission.Conclusions (1) In this study,children with IMN were mainly girls,and the age distribution was beyond 12 years.Nephrotic syndrome was the most common clinical manifestation.(2)Atypical membranous nephropathy was the most common pathological feature in children with IMN,which should be distinguished from hepatitis B virus-associated glomerulonephritis by testing HBV antigen in renal biopsy.(3) Prednisone was effective for IMN children,but it was suggested to give enough and long course of application.Effect of prednisone combined with cyclophosphamide was still undefined.

Objective:To analyze the ultrasonographic images and clinical characteristics of congenital mesoblastic nephroma (CMN), and to investigate the differential performances with Wilm′s tumor (WT).Methods:Twenty-one cases of CMN patients confirmed by pathology from December 2008 to December 2019 in Beijing Children′s Hospital, Capital Medical University were collected as the CMN group, and in the same criterion, 51 cases of WT patients were taken as WT group. Ultrasonographic images and clinical characteristics were collected retrospectively, and then the tumor size, site, echo and age were compared and analyzed between the two groups. ROC curve was used to evaluate the differential performance.Results:The difference analysis showed that except for echo ( P=0.694), there were statistically significant differences in tumor size, site and age between the two groups (all P<0.05). In prenatal, the incidence of CMN was significantly higher than WT (61.9% vs 3.9%, P<0.001), and the specificity was 96.1%. The median age (interquartile range) of CMN after birth was significantly earlier than WT( Z=-4.044, P<0.001). The area under the ROC was 0.949, the best cutoff was 112.5 days, with a sensitivity of 87.5% and a specificity of 93.9%. Conclusions:It is difficult to distinguish CMN and WT by echo, but the diagnosis performance can be improved through combining tumor size with site, especially age.

Objective To discuss the unique biological,histological and clinical features of pediatric renal cell carcinoma (RCC).Methods A retrospective review and biological analysis of all RCC cases presenting to our hospital from January 1973 to March 2012 was undertaken.Results Twenty-nine RCC pediatric patients (16 boys,13 girls) with mean age of 9.6 (range 2.5-16.0) years were identified.The presentations included hematuria in 17 (58.6％) cases with 3 who developed hematuria after trauma,abdominal mass with hematuria in 3 (10.3％),abdominal mass in 3,abdominal pain in 2,abdominal pain with hematuria in 1,and incidentally finding in 3.The diameter of tumor was from 2.5 cm to 25.0 cm,mean 6.8 cm.According to TNM stage grouping system,16 cases were stage Ⅰ,10 stage Ⅲ,and 3 stage Ⅳ.Xp1 1.2 translocation RCC was identified in 21 patients,clear cell RCC 6,papillary RCC 2.Of the 29 cases,3 patients with the tumor less than 7-cm had nephron-sparing surgery.A 15-cm tumor was incompletely removed in 1 patient and another patient with a 25 cm× 18 cm×15 cm tumor had gross residual.Nephrectomy was performed for the affected kidney in the remaining 24 patients.Twenty-one patients (Xp1 1.2 translocation RCC 13 patients,clear cell RCC 6,papillary RCC only 2) were followed up from 1.5 to 34.0 years,18 were living well (T1N0M0 in 11 cases,T1N1M0 in 2,T2N1M0 in 3,T3N1M0 in 1 and T4N1M1 in 1) and 3 died of recurrence.Conclusions Although RCC is rare in children,pediatric RCC behaves in a distinct fashion compared with adult forms of RCC.Hematuria is the main symptom in pediatric RCC.Xp11.2 translocation RCC is the predominant form,associated with an advanced stage at diagnosis.Nephrectomy is the common treatment for RCC and nephron sparing surgery could be a reasonable option for patients with tumor smaller than 7 cm.For localized RCC (T1-2 N0-1 M0),simple kidney removal surgery is sufficient for treatment without lymph node dissection and postoperative adjuvant treatment.

Objective: To investigate the clinical, pathological features and differential diagnosis of testicular Leydig cell hyperplasia (LCH) . Methods: Clinical data, histological features, immunohistochemical findings, ultrastructural characteristics and follow-up data were analyzed in three cases of LCH. The cases were collected from 2011 to 2014 at Beijing Children′s Hospital. A literature review was performed. Results: Two males (1.8 years and 2.9 years of age) showed isosexual pseudoprecocity with elevated serum testosterone. Imaging study showed bilateral testicular enlargement with multiple small nodules in the parenchyma. Another 13 years-old patient showed male pseudohermaphroditism and cryptorchism. Gross examination showed the bilateral markedly enlarged testis without discrete lesion. Histologically, LCH was seen in both nodular and diffuse patterns without destruction of seminiferous tubules. Adjacent spermatogenesis was noted. Immunohistochemically, the Leydig cells were positive for inhibin, calretinin and Melan A and ultrastructural analysis showed enriched cytoplasmic endoplasmic reticulum. Two cases had followed up for 7 years. One patient was symptom-free and one was stable. Conclusion LCH is a rare benign condition, which is easily misinterpreted as testicular tumor or non-neoplastic diseases. Clinical presentation, imaging study and pathological evaluation are required for the diagnosis.

Consensus ; Hirschsprung Disease ; diagnosis ; Humans

Objective: To investigate the clinicopathological and ultrastructural characteristics of Langerhans cell histiocytosis (LCH) in children. Methods: A total of 345 cases of LCH from the Department of Pathology, Beijing Children Hospital from January 2012 to March 2016 were investigated by hematoxylin-eosin stain, EnVision immunohistochemistry and transmission electron microscopy. Results: The rate of primary clinical diagnosis of LCH in children was 46.0%(210/457). Among 345 patients of LCH, 213 were male and 132 were female, the male to female ratio was 1.6∶1.0, and the median age was 21 months (range from 2 days after birth to 13.3 years). There were total 597 lesions, including bony lesions (258, 43.2%), skin lesions (206, 34.5%) , followed by lymph node (16, 2.7%), lung (28, 4.7%), liver (25, 4.2%) and head-neck (50, 8.4%). Single organ system LCH (SS-LCH) was seen in 295 cases (85.5%) and 50 cases (14.5%) presented with multiple organ system involvement LCH (MS-LCH). There was no significant difference in age and gender between SS-LCH and MS-LCH groups. Regarding sites, more lesions were seen in bone and skin in SS-LCH group, in contrast lymph node, lung, liver and head-neck involvements were often seen in MS-LCH group. Immunohistochemically, the expression of CD1a and Langerin was seen in 99.7% (341/342) and 98.8% (338/342) of the cases respectively. The diagnostic rates by light and transmission electron microscopy were 98.8% (341/345) and 97.4% (112/115) respectively (P>0.05). Conclusions LCH of children occurs predominantly in SS-LCH pattern, frequently involving bone, skin, lymph node, lung and liver and other sites with unique histopathological, immunophenotypical and ultrastructural features. Accurate diagnosis relies on the morphology, immunophenotype and ultrastructural features. Further refinement of specimen processing may improve the accuracy of pathological diagnosis.

Extrarenal Wilms′ tumor is extremely rare and has no characteristic clinical manifestations. Diagnosis is difficult before surgery, and is often confirmed by histopathology. Comprehensive treatment by surgery, chemotherapy and radiotherapy is currently adopted for such patients, and the overall survival rate can reach about 90%. Here we report a 2-year-old child with Wilms′ tumor in the left scrotum.

Objective: To summarize the clinical data including manifestations, diagnosis, treatment and prognosis of eosinophilic gastroenteritis (EGE) in children. Methods: A retrospective analysis was performed in 71 patients with pathologically proven EGE at Beijing Children's Hospital Affiliated to Capital Medical University from January 2008 to January 2017. Their clinical manifestations, laboratory and imaging examinations, endoscopic findings, histopathological examinations, and treatment were collected and analyzed. Results: Among 71 EGE cases, 47 (66%) cases were male and 24 (34%) cases were female, and the median age was 9.2 (0.2-16.5) years old. The main clinical manifestations included abdominal pain (76%, 54/71), vomiting (68%, 48/71), anorexia (54%, 38/71), weight loss (38%, 27/71), and diarrhea (37%, 26/71). There were 27 cases (38%) with a history of allergic diseases or family history. The median absolute value of eosinophil in peripheral blood of the 71 patients was 0.4 (0-36.8)×10⁹/L, and 27 cases (38%) showed an increase in eosinophil counts. Serum IgE was measured in 52 patients (104.3 (3.4- 3 000.0)×10³ U/L), and 30 patients (58%) showed an increase in serum IgE. A large number of eosinophils ((41.0±8.5)/HP) were found in 3 patients' ascites. The endoscopic examination of upper gastrointestinal tract revealed hyperemic edema in 62 cases (87%), plaque in 44 cases (62%), erosion in 17 cases (24%) and ulceration in 16 cases (23%). Histopathologically, in 8 cases (11%) the disease involved both stomach and duodeneum, in 21 cases (30%) involved stomach only, and in 37 cases (52%) involved duodeneum only. In addition, in 6 cases (8%) the disease involved esophagus and in 10 cases (14%) involved colorectum. Microscopically, eosinophil counts averaged 67/HP, 33/HP, 40/HP and 38/HP in esophageal, gastric, duodenal and colorectal mucosa respectively. A total of 34 cases were treated with glucocorticoid, and all these patients had alleviation of symptoms, which occurred within 14.9 days on average, but EGE recurred in 11 cases (32%). Conclusions The clinical symptoms and endoscopic findings of EGE are diverse and nonspecific. Histopathological examination of gastrointestinal mucosa is particularly important for the diagnosis. Glucocorticoid treatment is effective, but the patients with EGE are prone to relapse.

Objective:To summarize the clinical features of neuroblastoma (NB) with bone metastasis in infants and the prognostic factors.Methods:A retrospective analysis was performed on 32 patients aged ≤12 months who were enrolled in Beijing Children′s Hospital, Capital Medical University from January 2010 to December 2019 and had imaging findings suggesting signs of distant bone metastasis.The control group was included NB children, aged ≤12 months, who were admitted to Beijing Children′s Hospital, Capital Medical University during the same period, without signs of distant bone destruction.The clinical manifestations and auxiliary examinations of infants with bone metastasis were summarized, and the efficacy evaluation and survival analysis of infants with regular treatment and follow-up were conducted until December 31, 2020. Kaplan- Meier survival analysis was used for prognostic analysis, and Log Rank test was used for univariate prognostic analysis. Results:There were 32 NB infants with bone metastases, involving 12 males (37.5%) and 20 females (62.5%), accounting for 16.0% (32/200 cases) of infants diagnosed with NB du-ring the same period.The median age of onset was 9 (4.5-12.0) months.The main primary site included the retroperitoneal and adrenal region in 24 cases(75.0%) and mediastinum in 3 cases (9.4%). Among the 32 cases, 14 cases (43.8%) had simple bone metastasis, 19 cases (59.4%) had distant lymph nodes, 18 cases (56.3%) had bone marrow, and 3 cases (9.4%) had intracranial and meningeal metastasis.Bone metastasis mainly occurred in the skull, with 11 cases of single bone metastases and the remaining with 2 or more bone metastases.Compared with 168 NB infants without bone metastasis, the prognosis of those with bone metastasis was significantly worse [3-year overall survival(OS) rate 97.6% vs.82.7%, P=0.001]. Univariate analysis showed that the prognosis of NB children with bone marrow metastasis, meningeal and intracranial metastasis, MYCN gene amplification, and high-risk group was poor (all P<0.05). Two patients returned to the local hospital for treatment after diagnosis.A total of 30 children were recruited for efficacy evaluation and prognostic analysis.Twenty-nine children underwent surgery, of which 6 cases received surgery before chemotherapy and 23 cases received surgery after chemotherapy.One case received chemotherapy only.The mean course of chemotherapy was 6.2 (4-13) times.One case was treated with radiotherapy, 1 case was treated with Metaiodobenzylguanidine (MIBG) therapy, and 1 case was treated with stem cell transplantation.A total of 18 cases (62.1%) event-free survived, and 12 cases (40.0%) had a mean event at 7 (1.5-32.0) months.Among them, 7 cases survived and 5 cases died (16.7%). The expected 3-year event-free survival rate and OS rate were 57.1% and 82.7%, respectively. Conclusions:The most common sites of infant NB metastasis are bone and bone marrow, and the most common sites of bone metastasis are skull.Infants with bone metastasis had a worse prognosis than those without bone metastasis, and infants with bone and bone marrow metastasis had a worse prognosis than infants with single bone metastasis.

Objective:To investigate the improved performance of hepatic elastography combined with the serum biomarkers for the diagnosis of biliary atresia.Methods:A total of 193 patients with suspected biliary atresia in Beijing Children′s Hospital from March 2019 to November 2020 were consecutively collected. All patients were randomly divided into the training cohort and validation cohort at a ratio of 7∶3. LASSO regression analysis was used for the selection of the model index based on the data set from the training cohort including the serum biomarkers, demographic features (age and sex) and hepatic elastic measurement, and a diagnostic model for biliary atresia was subsequently developed by weighting on the basis of the dominance ration. The performance of the model was respectively evaluated with respect to the discrimination and calibration in each cohort.Results:Alanine aminotransferase (ALT), glutamyl transferase (GGT) and hepatic elastic measurement were selected to build the model. The area under the ROC curve of the final diagnostic model was 0.943 with a sensitivity of 90.9% and a specificity of 85.7% in the training cohort, and 0.955 in the validation cohort. Hosmer-Lemeshow test ( P=0.292, P=0.951) and calibration curves further validated its satisfactory calibration in both cohorts. As demonstrated by Delong et al.test, employing the model in the training cohort achieved the best diagnostic performance compared with using single model index ( P<0.001, P=0.016, P<0.001). In the validation cohort, the decision curve analysis showed the model had a higher overall net benefit over using hepatic elastography alone in every predicted probability. Conclusions:The diagnostic model for biliary atresia, which incorporates ALT, GGT and hepatic elastic measurement, can improve the performance of hepatic elastography with a higher clinical value.