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Objective: To study the clinical and pathological features of Denys-Drash syndrome (DDS)., Method: Three DDS cases who were treated in our department from December 2009 to June 2011 were subjected to this study by reviewing of literature., Result: Both case 1 and case 2 were female, with karyotype 46, XX. Case 3 was male with bilateral cryptorchidism. The ages of nephropathy onset of the three cases were 1 year and 9 months, 2 years and 8 moths, and 3 months respectively. Proteinuria in case 2 and case 3 were evidenced to be resistant to steroid. Case 1 was partially responsive to tacrolimus, plasma albumin and cholesterol were improved, although proteinuria was persistent after Tacrolimus was administered. Remission was achieved in case 2 after administration of cyclosporine A and later tacrolimus, and her renal function remains normal till present (4 years and 9 months). Residue renal histology revealed diffused mesangial sclerosis (DMS) in all three patients. All of the three patients had developed right unilateral Wilms tumor. A novel WT1 missense mutation exon 9 c.1213C > G was detected in case 1. WT1 exon 9 c.1168C > T nonsense mutation and exon 8 c.1130A > T missense mutation were detected in case 2 and case 3, respectively., Conclusion: The clinical manifestation of nephropathy in DDS is variable. The majority present with early onset nephropathy and reach renal failure before the age of 4 years. But in a few patients, nephropathy can also be present much later and progress slowly. Proteinuria in DDS is resistant to steroid but is responsive to calcineurin inhibitors, including Cyclosporine A. The effectiveness of tacrolimus was also observed in this study. DDS is evidently caused by WT1 mutation. DMS is the characteristic renal pathological change in DDS.

Objective: To examine the E-cadherin and beta-catenin expression in oral squamous cell carcinoma of tongue (OSCCT) and investigate the relationship of these markers with clinicopathologic features and patient prognosis., Methods: Quantitative immunohistochemistry analysis was used to examine E-cadherin and beta-catenin expression in lesions of 30 OSCCT patients. The relationship between the expression of E-cadherin and beta-catenin and clinicopathological features was analyzed., Results: The decreased expression of E-cadherin was observed in 19 of 30 (63%) tumours from patients who eventually developed a recurrent tumour and was also associated with recurrence (P=0.007). The expression of E-cadherin was associated with survival (P=0.018) and an independent prognostic factor in univariate analysis. There was no correlation between the expression level of E-cadherin and sex, age, histological differentiation, tumour size, clinical stage, or lymph node metastasis. The high expression of beta-catenin was observed in 18 of 30 (60%) tumours. No correlation between beta-catenin expression and clinicopathological features was observed., Conclusions: The absence or reduced expression of E-cadherin was closely associated with recurrence and survival in OSCCT patients. The aberrant expression of E-cadherin may provide a useful prognostic marker in OSCCT.

Objective: To evaluate the efficacy and safety of cyclosporine A(CsA) in the treatment of refractory nephrotic syndrome (RNS) in children., Methods: The Cochrane library, PubMed, EMBASE, CBMdisk, CNKI and VIP were searched from the time when the databases were established to December 31, 2008. Reports on RCTs on treating RNS in children with CsA were collected. Data were extracted and assessed independently by three reviewers. The methodological quality of included RCTs was assessed by the revised Jadad-scale (including randomization, allocation concealment, blinding method and withdrawal). Meta-analysis of homogenous RCTs was managed by using RevMan4.2.3., Result: Nine RCTs involving 293 participants were included. Six RCTs were assessed as high-quality studies with scores from 4 to 7 and 3 RCTs were assessed as low-quality studies with scores from 1 to 3. Sub-category meta-analysis was based on different clinical types and interventions of RNS in children. Meta-analysis based on included RCTs showed the following results. (1) In children with steroid-dependent or frequent relapse nephrotic syndrome: the short-term efficacy of CsA plus prednisone was better than that of prednisone alone [OR 0.14, 95% CI (0.03, 0.71)]; the short-term efficacy of CsA, cyclophosphamide (CTX) and mycophenolate mofetil had no significant differences, but compared with chlorambucil, CsA had a worse short-term efficacy [OR 6.93, 95% CI (1.53, 31.38)] and a higher relapse rate [OR 0.06, 95% CI (0.01, 0.58)]; maintaining a blood level of CsA between 60 and 80 microg/L during remission period could reduce the long term relapse rate [OR 6.43, 95% CI (1.21, 34.19)]; the incidence of end-stage renal disease (ESRD) or mortality was zero in both groups. (2) In children with steroid-resistant nephrotic syndrome, the short-term efficacy of CsA was better than that of placebo or supportive treatment and CTX, OR and 95% CI were 0.15 (0.02, 0.96) and 0.41 (0.03, 5.00), respectively, but no significant differences were found in the relapse rate and the incidence of ESRD or mortality. (3) Side effects of CsA: the incidence of nephrotoxicity, hypertrichosis and gum hypertrophy was higher in the CsA group than in that of control group, OR and 95% CI were 0.19 (0.05, 0.79), 0.06 (0.02, 0.19), 0.05 (0.02, 0.18), respectively, but no significant differences were found in the incidence of hypertension and liver toxicity., Conclusions: Available evidence showed that CsA could improve short term efficacy in RNS in children, but could not improve long term and endpoint efficacy, therefore CsA could be one of the ideal second-line drugs for RNS in children. There was a trend that the effect of CsA on steroid-dependent or frequent relapse nephrotic syndrome was superior to that on steroid-resistant nephrotic syndrome.

Objective: Primary IgA nephropathy (IgAN) is characterized by a highly variable course ranging from a totally benign condition to rapidly progressive renal failure. About 30% of children with IgAN will eventually have end-stage renal failure after 20 years from onset. A nation-wide survey was conducted and data of hospitalized children (younger than 14 years old) with IgAN during the period of 1995 to 2004 were analyzed. The aim was to investigate the clinical and pathological characteristics, treatment and outcome of the hospitalized children with IgAN., Methods: Questionnaires concerning children with IgAN were designed by the Subspecialty Group of Nephrology, Chinese Society of Pediatrics and distributed to the doctors of 33 hospitals in China. The criterion of IgAN was prominent and diffuse IgA deposition and to a lesser extent, other immunoglobulins in the glomerular mesangium and/or capillary loops, and purpura nephritis, lupus nephritis and hepatic disease were excluded. The data were collected and analyzed., Results: From January 1, 1995 to December 31, 2004, 1349 hospitalized children were diagnosed as IgAN. The cases of childhood IgAN accounted for 1.37% of the hospitalized cases with urologic-kidney diseases and 11.18% of those who underwent renal biopsies. Complete records were available for 1203 patients. The male to female ratio was 2.07:1. Both the median ages at the disease onset and diagnosis were 9.0 years. The median duration from onset to diagnosis of IgAN was 4 months; 55.94% of patients had predisposing causes, especially infection. Recurrent macroscopic hematuria was the most common clinical manifestation (41.15%), followed by nephritic syndrome (23.77%) and hematuria and proteinuria (20.78%). Subclass III (41.40%) and II (28.51%) were the most common histologic types. The main type of immunofluorescence examination was IgA deposition (34.50%). The intensity of IgA deposition in patients with hematuria and proteinuria and in acute rapidly progressive nephritis was the strongest (+++). There was no unified treatment scheme. Some patients were treated with corticosteroids and immunosuppressants, and 69.24% of the patients with IgAN showed clinical improvement, 10.39% remained unchanged, and 2 cases presented deterioration. The rate of follow-up was 23.35%, the mean duration of follow-up was 24.4 months., Conclusion: The mean age of onset of the primary childhood IgAN was after 6 years. Hematuria was the most common clinical manifestation. Subclass III and II were the most common histologic type. There was no unified treatment scheme. The rate of follow-up was lower and the rate of lost follow-up was high. It is necessary to establish a normalized management, treatment and follow-up system for childhood IgAN in China.

Objective: Idiopathic collapsing glomerulopathy (ICG) is a clinically and pathologically distinct variant of focal segmental glomerulosclerosis, which is characterized by proteinuria (often nephrotic range) and rapid progression to end-stage renal failure. The typical pathological changes are global/segmental glomerular collapse, hypertrophy and hyperplasia of podocytes and severe tubulointerstitial lesions. Most ICG patients who have been reported in previous published papers are adults. ICG in children is rare. The study aimed to analyze and investigate clinical manifestations, renal histopathological findings, treatment and outcomes of ICG in children., Methods: Data of two cases of ICG, a 7-year-old boy and a 12-year-old girl, were analyzed. Both of them were Chinese and Han. Clinical characteristics, results of laboratory tests, renal histopathological findings, treatment, outcomes and prognosis of the two children with ICG were retrospectively analyzed. Results were compared with published data., Results: These two children presented typical clinical features of nephrotic syndrome. The quantity of 24 hr urine protein was 7.6 g/d (0.47 g/kg x d for boy) and 10.67 g/d (0.35 g/kg x d for girl). Both of them had hypertension (blood pressure ranged from 130/90 to 150/110 mmHg) and hypercholesterolemia (15.4 mmol/L for the boy and 11.3 mmol/L for the girl). The serum albumin was 12 g/L for girl and 23 g/L for boy. The creatinine clearance rate gradually decreased from normal range to 30 ml/min for the girl. The histopathological changes in renal biopsy of them were focal segmental or global glomerular collapse, hypertrophy and hyperplasia of podocytes and severe tubulointerstitial lesions. These two cases were steroid-resistant and were treated with pulse intravenous methylprednisolone and pulse intravenous cyclphosphamade in one case, who rapidly progressed to end-stage renal failure and died half a year later. Another one was treated with cyclosporine. He showed continuous hypertention and heavy proteinuria for eight months., Conclusion: ICG in the 2 children was a severe disease which presented steroid-resistant nephrotic syndrome and rapidly progressive renal failure. The pathological characteristics was global/segmental glomerular collapse, hypertrophy and hyperplasia of podocytes and severe tubulointerstitial lesions. In children with ICG treatment was difficult and the prognosis was poor.