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Renal tumor in developing countries: 142 cases from a single institution at Shanghai, China
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Ci Pan, Jiao-Yang Cai, Min Xu, Qi-Dong Ye, Min Zhou, Min-Zhi Yin, Yu-Min Zhong, Jing |
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Background: The clinical management of children with renal tumors including Wilms' tumor, clear cell sarcoma, rhabdoid tumor and other renal tumors in our center was designed according to the National Wilms' Tumor Study Group protocols. Methods: A total of 142 consecutive patients who had been diagnosed as having renal tumors at Shanghai Children's Medical Center were reviewed retrospectively in the period of December 1998 and September 2012. Diagnosis and treatment were decided by a multidisciplinary team including oncologists, surgeons, pathologists and sub-specialized radiologists. Results: The median age of the patients at the time of diagnosis was 27 months. The tumor stages of the patients were as follows: stage I 24.6%, stage II 23.2%, stage III 32.3%, stage IV 14.1%, and stage V 5.6%. Favorable histology was diagnosed in 80.3%, anaplasia in 4.2%, clear cell sarcoma in 9.8%, rhabdoid tumor in 4.9%, and other renal tumors in 0.7% of the patients. The event-free and overall 5-year survival rates were 80% and 83%, respectively. Tumor relapse and progress was seen in 25 patients (17.6%). The median relapse time was 6 months (range: 2-37 months). Seven relapsing patients were retreated and four of them got second complete remission (three in stage II, one in stage I). Conclusion: A multi-disciplinary team work model is feasible in developing countries, and the renal tumors protocols basically from developed countries are safe in developing countries.
Key words: China; developing country; multi-disciplinary team; renal tumors
World J Pediatr 2015;11(4):326-330 |
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[Abstract] [Full Text] [PDF]
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Inflammatory bowel disease in Turkish children
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Inflammatory bowel disease in Turkish children |
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Background: This study was undertaken to evaluate demographics, clinical manifestations, laboratory findings and outcomes of children with inflammatory bowel disease (IBD) in Turkey. Methods: We analyzed the medical records of 127 children diagnosed with IBD (under 18 years old) between January 2004 and January 2012 in 8 pediatric gastroenterology centers. Results: Of the 127 patients, 90 (70.9%) suffered from ulcerative colitis (UC), 29 (22.8%) from Crohn's disease (CD), and 8 (6.3%) from IBD unclassified. The mean age of the 127 patients was 11.6¡À4.1 years, and 11.8% of the patients were below 5 years old. Of the patients, 49.6% were male, and males were more predominant in patients with CD than in those with UC (72.4% vs. 42.2%, P=0.008; a male/female ratio of 2.62 in CD, P=0.0016). Approximately one fifth of the patients had extra-intestinal manifestations and 13.3% of the patients had associated diseases. Extraintestinal manifestations and associated diseases were more common in early onset disease [P=0.017, odds ratio (OR)=4.02; P=0.03, OR=4.1]. Of the patients, 15% had normal laboratory parameters including anemia, high platelet count, hypoalbuminemia, hypoferritinemia, and high sedimentation rate. Area under receiver operation characteristics was used to predict pancolitis in patients with UC. The values of C-reactive protein, sedimentation rate and pediatric ulcerative colitis activity were 0.61 (P=0.06), 0.66 (P=0.01) and 0.76 (P=0.0001), respectively. Four (4.4%) patients with UC underwent colectomy, and finally two (1.5%, 95% confidence interval: 0-3.7%) patients died from primary disease or complications. Conclusions: IBD is an increasing clinical entity in Turkey. Features of IBD are similar to those in other populations, but prospective multicenter studies are needed to analyze the true incidence of IBD in Turkish children.
Key words: associated diseases; Crohn's disease; inflammatory bowel disease; outcome; ulcerative colitis
World J Pediatr 2015;11(4):331-337 |
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[Abstract] [Full Text] [PDF]
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Clinicopathological features and prognosis of membranoproliferative-like Henoch-Schönlein purpura nephritis in children
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Yan-Jie Huang, Xiao-Qing Yang, Wen-Sheng Zhai, Xian-Qing Ren, Qing-Yin Guo, Xia Zhang, Meng Yang, Tatsuo Yamamoto, Yuan Sun, Ying Ding |
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Background: The aim of this retrospective study was to define the clinical manifestations, pathological features and prognosis of children with membranoproliferativelike Henoch-Schönlein purpura nephritis (HSPN), representing International Study of Kidney Disease in Children (ISKDC) grade VI. Methods: Among 245 patients with HSPN treated in our hospital between 2008 and 2010, nine patients (3.7%) were diagnosed with HSPN of ISKDC grade VI (males=5, females=4, age: 9.5¡À2.03 years, mean¡ÀSD). The clinical features, laboratory and pathological fi ndings, treatment and outcome of the 9 patients were retrospectively analyzed. Results: Of the 9 patients, 7 (78%) presented with hematuria and nephrotic syndrome, and were treated with steroids (oral prednisone or intravenous methylprednisolone pulse therapy) and immunosuppressants (oral tripterygium glycosides or intravenous cyclophosphamide pulse therapy). One (11%) patient had hematuria and nephrotic range proteinuria (>50 mg/kg per 24 hours) and was treated with oral prednisone and tripterygium glycosides. Another (11%) patient presented with hematuria and moderate proteinuria (25-50 mg/kg per 24 hours) and was treated with oral tripterygium glycoside only. Histopathological examination showed diffuse glomerular mesangial and endocapillary proliferation, mesangial interposition, double-contour formation, podocyte hypertrophy, shedding, and cytoplasmic absorption droplets. The percentages of glomeruli with small cellular crescents varied from 4%-25% in 6 of 9 patients. Follow-up for 2 to 4 years showed excellent recovery in all patients. Conclusions: The main clinical feature of ISKDC grade VI HSPN in children is a nephrotic syndrome with hematuria. The excellent prognosis of the disease was probably related to early diagnosis and treatment with steroids and/or immunosuppressants, and mild degree of glomerulosclerosis and tubulointerstitial damage.
Key words: clinicopathological features; Henoch-Schönlein purpura nephritis; prognosis
World J Pediatr 2015;11(4):338-345 |
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[Abstract] [Full Text] [PDF]
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Applicability of various estimation formulas to assess renal function in Chinese children
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Yue Du, Ting-Ting Sun, Ling Hou, Jin-Jie Guo, Xiu-Li Wang, Yu-Bin Wu |
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Background: This study was to evaluate the relative applicability of the most commonly used estimation formulas for renal glomerular filtration rate (GFR) of Chinese children with chronic kidney disease (CKD). Methods: One hundred CKD patients of less than 17 years old were divided into two groups by sex which was further categorized into five subgroups based on CKD staging according to the "reference" GFR (rGFR) determined by Tc-99m-DTPA renal dynamic imaging. Four GFR markers including serum cystatin C (CysC), ¦Â2-microglobulin, creatinine, and blood urea nitrogen were measured. Results: Among all four markers, CysC best reflected the extent of glomerular damages for CKD stage 1. The value for estimation of GFR (eGFR) was derived from five different formulas either over-estimated or underestimated GFR as referenced to rGFR, and the extent of deviations was dependent on gender, age and CKD stage. The Counahan-Barratt formula and the Schwartz formula gave the most accurate estimations of GFR for CKD stages 1 and 2-3, respectively regardless of gender and age differences. Receiver operating characteristic analyses indicated that the Counahan-Barratt formula has the highest diagnostic accuracy. Conclusion: The Counahan-Barratt formula provides the best approximation to rGFR, thereby the highest applicability to Chinese children with CKD of different genders, ages and CKD stages.
Key words: chronic kidney disease; Counahan-Barratt formula; cystatin C; renal glomerular fi ltration rate; Schwartz formula
World J Pediatr 2015;11(4):346-351 |
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[Abstract] [Full Text] [PDF]
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The correlation between plasma cytokine levels in jaundice-free children with biliary atresia
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The correlation between plasma cytokine levels in jaundice-free children with biliary atresia |
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Background: T helper (Th) cell cytokines modulate inflammation and play a role in biliary atresia (BA). The aim of the study is a cross-sectional assessment of the levels of Th cytokines in the jaundice-free post Kasai procedure patients. Methods: There were 40 jaundice-free patients with BA and 28 normal controls enrolled. Patients were divided into 3 groups, including normal liver function, impaired liver function, and portal hypertension. Plasma concentration of Th1 [interferon-¦Ã (INF-¦Ã), interleukin (IL)-2], Th2 (IL-4, IL-10), Th3 [transforming growth factor-¦Â1 (TGF-¦Â1)], Th17 (IL-17) cytokines, and stromal cell-derived factor-1¦Á (SDF-1¦Á) were investigated. Results: The IFN-¦Ã level was significantly higher in the BA patients with impaired liver function and portal hypertension than controls (P<0.0001 and P<0.0001, respectively). There was a signifi cantly increase of TGF-¦Â1 in all BA groups compared with controls (P=0.003). The reduction of SDF-1¦Á expression was found in BA groups (P<0.0001). IL-10 levels significantly correlated with aspartate aminotransferase to platelet ratio index (r=0.496, P=0.001). For the cytokine correlations, there were no correlations of Th1, Th2 and Th17 cytokine with the other measured cytokines, but TGF-¦Â1 was negatively correlated with SDF-1¦Á levels (r=-0.327, P=0.039). Conclusions: IFN-¦Ã and IL-10 are likely to be involved in the disease progression in BA. Besides, TGF-¦Â1 is found to be a suppression marker associated with SDF-1¦Á levels and reduced production of TGF-¦Â1 may be associated with the disease progression.
Key words: biliary atresia; gastroenterology; immunology; pediatric disease
World J Pediatr 2015;11(4):352-357 |
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[Abstract] [Full Text] [PDF]
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Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants
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Lian-Shu Han, Zhuo Huang, Feng Han, Jun Ye, Wen-Juan Qiu, Hui-Wen Zhang, Yu Wang, Zhu-Wen Gong, Xue-Fan Gu |
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Background: This study aims to study MUT gene mutation spectrum in Chinese patients with isolated methylmalonic academia (MMA) and their clinical features for the potential genotype-phenotype correlation. Methods: Forty-three patients were diagnosed with isolated MMA by elevated blood propionylcarnitine, propionylcarnitine to acetylcarnitine ratio, and urine methylmalonate without hyperhomocysteinemia. The MUT gene was amplified by polymerase chain reaction and directly sequenced. Those patients with at least one variant allele were included. The novel missense mutations were assessed by bioinformatic analysis and screened against alleles sequenced from 50 control participants. Results: Among the 43 patients, 38 had typical clinical presentations, and the majority (30/38) experienced early-onset MMA. Eight patients died and seven were lost to follow-up. Twenty patients had poor outcomes and eight showed normal development. The 43 identified MUT gene mutations had at least one variant allele, whereas 35 had two mutant alleles. Of the 33 mutations reported before, eight recurrent mutations were identified in 32 patients, and c.729_730insTT (p.D244Lfs*39) was the most common (12/78) in the mutant alleles. Of the 10 novel mutations, six were missense mutations and four were premature termination codon mutations. The six novel missense mutations seemed to be pathogenic. Conclusions: A total of 10 novel MUT mutations were detected in the Chinese population. c.729_730insTT (p.D244Lfs*39) was the most frequent mutation. A genotype-phenotype correlation could not be found, but the genotypic characterization indicated the need of genetic counseling for MMA patients and early prenatal diagnoses for high-risk families.
Key words: methylmalonic acidemia; missense mutation; MUT gene |
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[Abstract] [Full Text] [PDF]
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Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy
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Shan-Shan Chu, Jun Ye, Hui-Wen Zhang, Lian-Shu Han, Wen-Juan Qiu, Xiao-Lan Gao, |
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Background: X-linked adrenoleukodystrophy (X-ALD) is a fatal neurodegenerative disease caused by mutations in the adenosine triphosphate-binding cassette D1 (ABCD1) gene. This study aimed to retrospectively investigate the clinical characteristics of 25 patients with X-ALD including members of large pedigrees, to analyze ABCD1 gene mutations, the effect of gene novel variants on ALD protein (ALDP) structure and function, and to expand gene mutation spectrum of Chinese patients. Methods: Twenty-five male patients diagnosed with X-ALD were enrolled in this study. The clinical characteristics of the patients were retrospectively summarized by reviewing medical records or telephone consultation. ABCD1 gene mutations were analyzed. The pathogenicity of novel missense variants was analyzed using cobalt constraint-based multiple protein alignment tool, polymorphism phenotyping, sorting intolerant from tolerant, Align-Grantham variation and Grantham deviation, and Swiss-Program Database Viewer 4.04 software, respectively. Results: Childhood cerebral form ALD (CCALD) is the most common phenotype (64%) in the 25 patients with X-ALD. The progressive deterioration of neurological and cognitive functions is the main clinical feature. The demyelination of the brain white matter and elevated plasma very long chain fatty acids (VLCFAs) were found in all patients. Different phenotypes were also presented within family members of the patients. Twenty-two different mutations including 8 novel mutations in the ABCD1 gene were identified in the 25 patients. Of the mutations, 63.6% were missense mutations and 34.8% located in exon 1. The amino acid residues of three novel missense mutations in eight species were highly conserved, and were predicted to be "probably" damaging to ALDP function. The other five novel mutations were splice, nonsense, deletion or duplication mutations. Conclusions: CCALD is the most common phenotype (64%) in our patients with X-ALD. Eight novel mutations in the ABCD1 gene identified are disease-causing mutations. Brain magnetic resonance imaging and plasma VLCFA determination should be performed for the patients who present with progressive deterioration of neurological development.
Key words: ABCD1 protein; adrenoleukodystrophy; adrenoleukodystrophy protein; missense variant; mutation
World J Pediatr 2015;11(4):366-373 |
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[Abstract] [Full Text] [PDF]
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Intestinal detoxification time of hand-foot-and-mouth disease in children with EV71 infection and the related factors
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Shu Teng, Yi Wei, Shi-Yong Zhao, Xian-Yao Lin, Qi-Min Shao, Juan Wang |
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Background: Hand-foot-and-mouth disease (HFMD) is a common pediatric infectious disease caused by a variety of intestinal viruses. Enterovirus 71 (EV71) is the primary pathogen that might cause severe symptoms and even death in children with HFMD. This study aimed to investigate the intestinal detoxification time of HFMD children with EV71 infection and its related factors. Methods: Sixty-five HFMD children with EV71 infection were followed up. Their stool samples were collected once every 4 to 7 days. Viral nucleic acids were detected by fluorescent polymerase chain reaction until the results became negative. The positive rates of viral nucleic acids were analyzed by the Kaplan-Meier method. The Log-rank test and Cox-Mantel test were used to analyze factors affecting the HFMD children with EV71 infection. Results: On the 2nd, 4th, 6th and 10th week, the positive rates of viral nucleic acids in stool samples of the 65 children were 94.6%, 48.1%, 17.2% and 0, respectively. Univariate analysis showed that the intestinal detoxification time of the children were related to gender, pre-admission disease course, severity of disease, and use of steroids or gamma globulin (P<0.05). Multivariate analysis showed that the severity of disease was an independent factor affecting the intestinal detoxification time (P<0.05), with a relative risk of 2.418. Conclusions: The longest intestinal detoxifi cation time of HFMD children with EV71 infection was 10 weeks. The severity of disease was an important factor affecting the intestinal detoxification time of HFMD children with EV71 infection. Severe HFMD children with EV71 infection had a longer intestinal detoxifi cation time.
Key words: detoxifi cation time; enterovirus 71; hand-foot-and-mouth disease; relative factor
World J Pediatr 2015;11(4):380-385 |
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[Abstract] [Full Text] [PDF]
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