A child with diffuse mesangial sclerosis caused by a missense mutation of TRPC6 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic etiology and clinical outcome of a child with steroid-resistant nephrotic syndrome and diffuse mesangial sclerosis.@*METHODS@#Genomic DNA was extracted from peripheral blood leukocytes of the proband and his parents. Targeted capture - next generation sequencing and Sanger sequencing were carried out. Candidate variant was verified by segregation analysis in his family.@*RESULTS@#A heterozygous missense variant of the TRPC6 gene, namely c.325G>A (p.Gly109Ser), was detected in the proband. The same variant was not detected in either parent. According to the guidelines for the interpretation of sequence variants developed by American College of Medical Genetics and Genomics, the variant was predicted as pathogenic.@*CONCLUSION@#The missense variant of the TRPC6 gene probably underlay the diffuse mesangial sclerosis in this patient. Above finding has expanded the phenotypic spectrum of the TRPC6 gene.

LMX1B-associated disease presented with prominent asymptomatic proteinuria / 中华实用儿科临床杂志

Objective:To analyze clinical data of 3 children with LMX1B-associated disease characterized by asymptomatic glomerular proteinuria, thus improving the recognition of asymptomatic proteinuria with genetic causes. Methods:Three patients with LMX1B-associated disease presented with prominent asymptomatic proteinuria diagnosed by the next-generation sequencing in Department of Pediatrics, Peking University First Hospital from April 2014 to October 2017 were included in this study.Clinical data, including renal and extrarenal manifestations, renal biopsy, and family history, were collected and retrospectively analyzed. Results:All 3 children were girls, the age of onset were 2 years, 1 year, and 4 years, respectively, and the diagnosis age were 11 years, 5 years and 6 years, respectively.All of them had glomerular proteinuria, and nephrotic-level proteinuria occurred in one patient.Microscopic hematuria was found in 2 patients.All of them had normal renal function.Only one patient underwent renal biopsy.Electron microscopy of the first time of biopsy revealed segmental thinning of the glomerular basement membrane.Re-biopsy 4 years later showed irregular thickening of the glomerular basement membrane, moth-eaten appearance and collagen fibrillar material deposition.No abnormalities of nails, limbs and joints were observed by physical examination.Two patients had a family history of renal disease.Conclusions:Genetic factors should be considered in children with obscure onset asymptomatic proteinuria without definite clinical causes.Genetic testing can help diagnose and guide treatment as early as possible.

Refractory hypertension caused by renal artery fibromuscular dysplasia in one child / 临床儿科杂志

Objective To explore the clinical characteristics, diagnosis and treatment of refractory hypertension caused by renal artery fibromuscular dysplasia (FMD) in children. Method The clinical data of a child with refractory hypertension caused by FMD were retrospectively analyzed. Results A boy, with onset at age of 4 years, had significantly increased blood pressure and decreased serum potassium. His renin and angiotensin levels were significantly elevated. The boy was diagnosed with renovascular hypertension by color Doppler ultrasonography, enhanced thoracoabdominal CT and vascular reconstruction. Oral administration of a variety of antihypertensive drugs is not effective. The child was finally diagnosed of refractory hypertension caused by FMD using renal angiography. The child was not suitable for surgery. After adjusting the antihypertensive drugs, the blood pressure of the child tended to be stable. The boy received continuous follow-up for 8 years. The antihypertensive regimen was adjusted annually and blood pressure fluctuations and target organ damage were dynamically assessed. Conclusion Children with FMD caused renal vascular hypertension may have no specific manifestations in the early stage. The drug treatment is preferred, and surgical treatment may be considered.

Dent disease combined with renal failure:two case report and literature review / 临床儿科杂志

Objective To explore the etiology and prognosis of Dent disease combined with renal failure in children. Methods The clinical data of 2 children with Dent disease combined with renal failure from January 2014 to December 2016 were analyzed and the related literature was reviewed. Results Both of them were male, with the age of 8 and 10 years old respectively. Their renal functions were normal, and no renal calcification. Both of them had the history of upper respiratory tract virus infections within 1 week before the onset of renal failure. In case 1, acute phase (10 days) renal biopsy showed combined with acute tubulointerstitial nephritis, and his renal function recovered completely after glucocorticoids treatment. In case 2, renal biopsy at 6 months in course of disease showed the combined with subacute tubulointerstitial nephritis, and his renal function was improved partly after glucocorticoids treatment. Conclusions For children with Dent disease combined with acute renal failure, especially with upper respiratory tract virus infections and other inducement, renal biopsy should be early performed to exclude the possibility of acute tubulointerstitial nephritis, so that the treatment can be timely conducted and the prognosis can be improved.

Noninvasive cardiac output monitoring using bioreactance in pediatric continuous blood purification patients / 中国小儿急救医学

Objective To study the influence of continuous blood purification(CBP) on cardiac out-put of pediatric patients using bioreactance. Methods Patients underwent CBP in PICU and nephrology ward from March 2014 were prospectively enrolled after approval by ethics committee. CBP therapies were all performed by Fresenius Medical Care hemodialysis machine. Cardiac output values were obtained using the non-invasive cardiac output monitoring ( NICOM) device ( Cheetah Medical). Blood pressure, heart rate, cardiac index(CI) and stroke volume index(SVI) were recorded before the therapy,at the beginning of ther-apy,during the course of therapy,and at the end of each therapy. Results Twenty-one pediatric patients (from 1. 0 year to 15. 5 years) were recruited and 69 treatments were recorded from March 2014 to Decem-ber 2016. The basic CI was 3. 4 (2. 4,6. 1) L/(min·m2),basic SVI was 43 (26,75) ml/(m2·beat). Dur-ing the beginning of therapy,mean arterial pressure(MAP),CI and SVI all dropped from the baseline ( P<0. 001),whereas heart rate increased. During the course of CBP,CI and SVI (were both recorded every 4 hours) kept on dropping and stayed at a relatively lower level. Course CI was 3. 0 (2. 4,4. 6) L/(min·m2) and course SVI was 28 (21,57) ml/(m2·beat). At the end of therapy,CI was 3. 4 (2. 5,5. 3) L/(min· m2),with no significant difference from the baseline CI (P＝0. 073). However,the SVI at the end of therapy was 35 (25,67) ml/(m2·beat),higher than the course SVI but still lower than the basic SVI,the differences were statistically significant ( P<0. 05). Conclusion CI and SVI continue to decline at the beginning of CBP treatment and remain at a lower level throughout the course of treatment. After the therapy, CI has returned to the basic level whereas SVI has not recovered.

Etiology analysis of 86 children with end-stage renal disease in a single-center / 中华实用儿科临床杂志

Objective To investigate the etiology composition of end-stage renal disease (ESRD) in children,in order to provide reference for the prevention and treatment.Methods The children with ESRD who were diagnosed in Peking University First Hospital from January 2005 to October 2013 were selected,and the etiology composition and incidence of the children with ESRD were retrospectively analyzed.Diagnostic criteria for children with ESRD refer to the clinical practice guidelines for chronic renal disease (NKF/KDOQI),developed by the American kidney foundation in 2002.Results Eighty-six children with ERSD were enrolled including 53 cases of males,33 cases of females,with the male to female ratio of 1.61 ∶ 1.00 and the mean onset age was (7.08 ± 4.23) years old,and their average diagnosis age was(9.25 ±4.17) years old.The median duration of ERSD before diagnosis was 0.84(0.01-13.67)years.The main cause of ESRD was acquired renal disease,accounting for 43.02％ (37/86 cases),mainly the chronic glomerulonephritis (18/86 cases,20.93％) and nephrotic syndrome (16/86 cases,18.60％);followed by urinary congenital abnormity,accounting for 40.70％ (35/86 cases),in which the most common were renal dysplasia (18/86 cases,20.93％) and cystic renal disease (11/86 cases,12.79％).Children under 3 years old mainly showed congenital urinary tract abnormalities(6/10 cases,60.00％).But children over 3 years old mainly showed acquired renal diseases (37/76 cases,48.7％),and pathologic classification of glomerular disease were proliferative mesangial glomerulonephritis (6/23 cases,26.09％),focal segmental glomerulosclerosis (5/23 cases,21.74％) and interstitial nephritis(3/23 cases,13.04％).Conclusions The main etiology of ESRD is glomerular disease and congenital abnormal development of urinary system,therefore,more attention should be paid on the ultrasound screening of the urinary tract in the perinatal period and urine screening in children.There are great significances in reducing the incidence of ESRD and intervening actively the progression to chronic kidney disease.

Clinical phenotypes of hepatocyte nuclear factor 1 homeobox b-associated disease / 中华儿科杂志

Objective@#Hepatocyte nuclear factor 1 homeobox b (HNF1B) -associated disease is an autosomal dominant inherited disorder with a variable, multi-systemic phenotype. In China, five adult probands and one child proband with HNF1B-associated disease had been reported, whereas few fetuses are described. The aims of this retrospective study were to understand about the clinical manifestations of HNF1B-associated disease and to further improve the recognition of this disorder.@*Method@#Four patients (3 males, 1 female) and three fetuses with HNF1B mutations were included in this study. They were admitted to our hospital from January 2013 to March 2017. HNF1B mutations were detected using targeted next generation sequencing and quantitative real-time PCR or Sanger sequencing. HNF1B heterozygous deletion of exons 1-9 was found in 4 patients and 2 fetuses, and HNF1B heterozygous missense mutation in 1 fetus. These two mutations had been reported. Two patients and 1 fetus had de novo mutations. Results of renal ultrasonography with or without magnetic resonance imaging, biochemical investigations, urine routine examination and other necessary investigations in 7 cases were analyzed.@*Result@#Three patients were Han Chinese ethnicity, and one patient was Mongolian. In patients 1 and 4, abnormal fetal kidneys were discovered by routine ultrasonography, and the age at first feature identified in Patients 2 and 3 were 13 years and 28 years. Patient 3 had normal renal function and the remainder had reduced glomerular filtration rate. In addition, patient 4 presented with nephrotic syndrome and glycosuria, patient 2 with early onset hyperparathyroidism and renal osteodystrophy, and patient 3 with diabetes mellitus. All the 4 patients had renal structural abnormalities including bilateral multiple renal cysts, dysplasia and hyperechogenic kidneys. Only patient 3 had a positive family history of renal diseases, the remainder had a negative family history of renal diseases. In 3 fetuses, prenatal ultrasound anomalies were detected during the second trimester. These 3 fetuses had hyperechogenic kidneys with or without renal cysts. Polyhydramnios was detected in only one of the 3 fetuses. Two of the 3 fetuses had a positive family history of renal diseases.@*Conclusion@#Clinical phenotypes of HNF1B-related disease are heterogeneous, renal malformations clearly appear to be the most common manifestation, multiple renal cysts are characteristic, and patients can progress to impaired kidney function during childhood; HNF1B mutation is a differential diagnosis of fetal hyperechogenic kidneys or multiple renal cysts.

Changes in skeletal metabolism of glucocorticoids-treated children with kidney diseases / 中华实用儿科临床杂志

Objective To understand the skeletal metabolism in glucocorticoids-treated children with kidney diseases and to evaluate the role of Alfacalcidol plus calcium supplements.Methods A retrospective self-controlled study was performed in children with kidney diseases,admitted to Department of Pediatrics,Peking University First Hospital from July 2012 to November 2014,and they conformed to the inclusion and exclusion criteria.Inclusion criteria:children with renal diseases were included when they were administered with glucocorticoids,Alfacalcidol and calcium at the enrollment and follow-up,whose proteinuria was in remission or improved on follow-up,and renal function defined by glomerular filtration rate was more than 80 mL/(min · 1.73 m2),and they were followed up for at least 3 months.Exclusion criteria:whereas on follow-up,children with renal diseases were excluded if glucocorticoids was discontinued,or the follow-up period was less than 3 months,and related parameters were not available at the initial and finial visit.Serum levels of calcium,phosphate,alkaline phosphatase,25-hydroxy-vitamin D (25-OH-VitD) were detected,and bone mineral density at the left radius and mid tibia was measured by using quantitative ultrasound at the initial and finial visit.The levels of calcium,phosphate,alkaline phosphatase,25-OH-VitD and bone mineral density were compared between the initial and finial visit.Results A total of 29 cases (23 male,6 female) were recruited.Their ages at study entry were 2.4 to 14.9 years.Underlying disorders were primary nephrotic syndrome(17 cases),IgA nephropathy (4 cases),lupus nephritis (3 cases),purpura nephritis (2 cases),acute glomerulonephritis (1 case),Sjogren's disease(1 case),and autoimmune disease(1 case).At the time of enrollment,the course of disease was 1 to 69 months (median course of disease was 8 months),the duration of using corticosteroid was 0-60 months (median duration was 5 months),and the follow-up time was 92-409 days.The serum calcium,alkaline phosphatase and 25-OH-VitD levels at finial visit[(2.29 ±0.11) mmol/L,(153.21 ±71.00) U/L,and (40.96 ± 11.40) nmol/L,respectively] were significantly higher as compared with those at initial visit [(2.17 ± 0.16) mmol/L,(114.10 ±64.48) U/L,and (31.64 ± 10.99) nmol/L,respectively],and the differences were significant (all P ＜ 0.01),whereas there was no significant difference in serum level of phosphorate between initial and finial visit[(1.45 ±0.25) mmol/L vs.(1.48 ± 0.25) mmol/L] (t =-0.452,P ＞ 0.05).Meanwhile,there was significant difference in serum level of albumin level between initial and finial visit [(31.41 ± 9.31) g/L vs.(42.09 ± 4.00) g/L,t =-3.670,P ＜ 0.001].Compared with baseline assessment,bone mineral density at the left radius and tibia improved or maintained in 24/29 patients,whereas that of 5/29 patients declined.However,compared with initial and finial visit of bone mineral density in all patients(0.09 ± 1.58 vs.0.22 ± 1.07 at the left radius;0.93 ± 1.13 vs.1.00 ± 1.35 at the mid tibia),there was no significant difference (all P ＞ 0.05).Conclusions Bone loss can be prevented by Alfacalcidol plus calcium supplement in glucocorticoids-treated children with kidney diseases.

Childhood primary bladder telangiectasia:a case report and literature review / 临床儿科杂志

Objective To explore the diagnosis of primary bladder telangiectasia. Methods The clinical data of a child with primary bladder telangiectasia were reviewed. Results A 9-year-old girl had gross hematuria without obvious cause at 3 years old. After that she presented intermittent gross hematuria and persistent microscopic hematuria with blood clots in the urine following repeatedly respiratory tract infections, and had hemorrhagic shock once. Urine routine examination showed albumin 1+~2+ and RBC full in entire field of view. 24 hours urine protein quantitation was 0.96 g. Ultrasound of abdomen and urinary tract and enhanced CT of urinary system had no abnormal findings. Renal artery angiography showed no arteriovenous malformation or fistula. Cystoscopy showed telangiectasia. There was neither family history nor telangiectasia in other parts. Both genetic telangiectasia and ataxia telangiectasia gene mutation analysis were normal. Conclusion It is rarely seen primary bladder telangiectasia in children. However, children with early onset, long-term, and intermittent gross hematuria with blood clots, especially suffered with hemorrhagic shock, vascular disease should firstly be considered. And routine urinary imaging should be performed, including angiography and ,if necessary, cystoscopy.

Relationship between hyperhomocysteinemia and chronic kidney disease in children / 中华实用儿科临床杂志

Objective To investigate the detection rate and possible factors of hyperhomocysteinemia(HHcy) in children with chronic kidney disease(CKD).Methods The clinical data of children with CKD between July 2012 and September 2016 in the Department of Pediatrics,Peking University First Hospital were retrospectively collected.The homocysteine(Hcy) level of patients were measured.The other data included the general information,diagnosis and laboratory test results.Results Seventy-six pediatric patients with CKD were enrolled including 49 boys and 27 girls.The average age of the patients was (9.9±3.4) years old.The main cause of the patients in the study was primary glomerulopathy(48.7%,37/76 cases),and the rest were congenital and inherited glomerular diseases(36.8%,28/76 cases),secondary glomerular diseases(9.2%,7/76 cases)and renal tubular diseases(5.3%,4/76 cases).Fifty patients (65.8%,50/76 cases) had normal level of Hcy which was 10.40(7.30,11.62) μmol/L.Twenty-six patients(34.2%,26/76) were detected with HHcy whose Hcy level was 17.93(16.76,24.11) μmol/L.The detection rate of HHcy in CKD stage 1,stage 2,stage 3,stage 4 and stage 5 was 13.9%(5/36 cases),22.2%(2/9 cases),50.0%(4/8 cases),57.1%(4/7 cases) and 68.8%(11/16 cases) respectively,and the detection rate increased with CKD stages and the difference was statistically significant (χ2=17.574,P<0.001).The level of Hcy was 10.05(7.04,12.47) μmol/L,11.75(10.78,16.44) μmol/L,13.73(10.09,18.23) μmol/L,15.81(11.12,20.71) μmol/L and 17.39(11.86,24.76) μmol/L in CKD stage 1,stage 2,stage 3,stage 4 and stage 5,respectively.The Kruskal-Wallis test revealed that the distribution of homocysteine in CKD stages had statistically significant difference(P=0.001).Multiple linear regression model showed that creatinine clearance was an independent predicator of HHcy.Conclusions In this study of the CKD patients,the detection rate of HHcy was high and increased with the progression of CKD.HHcy is mainly influenced by creatinine clearance in CKD.The level of Hcy should be monitored regularly in children with CKD and HHcy should be treated with proper measures.

Tacrolimus causes acute renal failure in the treatment of nephrotic syndrome in children:a report of 3 cases / 临床儿科杂志

Objective To explore the causes of acute renal failure resulted from tacrolimus in the treatment of nephrotic syndrome. Method The clinical data of acute renal failure caused by tacrolimus in treatment of nephrotic syndrome in 3 children during January 2012 and December 2015 were retrospectively analyzed. Results There were 2 male and 1 female aged 3, 11,and 13 years respectively. Clinical manifestations were consistent with simple type of primary nephrotic syndrome. One child was frequently recurrent and another two were secondary steroid resistant. The renal pathology showed minimal changes. Acute renal failure occurred within 4 weeks after treatment with tacrolimus on the basis of hormone therapy in all patients who had infection within one week. Renal function recovered to normal within 2 weeks after discontinuation or reduction of tacrolimus combined with anti-infection and diuresis treatment. Two children continued with tacrolimus, but the other one was replaced with cyclosporin A. The renal function of all patients remained normal during the follow-up for 10-42 months. Conclusion In the first 4 weeks of tacrolimus therapy in children with nephrotic syndrome, infection may lead to reversible acute renal failure.

The progress of the complement system with the pediatric relevant diseases / 中华检验医学杂志

The complement system is a complex protein network and as one part of the innate immune system.It is actived by inborn or the adaptive immune system and defends against invading pathogens,removes immune complexes and damaged self-cells,and engages with the adaptive immune response.Genetic abnormalities and (or) defective complement regulators can damage the host cell and result in several autoimmune and (or) immune inflammatory diseases.This review summarizes recent advances on the roles and detections of complement system proteins in some pediatric complement-relevant diseases.

Etiology analysis of 86 children with end-stage renal disease in a single-center / 中华实用儿科临床杂志

Objective To investigate the etiology composition of end-stage renal disease (ESRD) in children,in order to provide reference for the prevention and treatment.Methods The children with ESRD who were diagnosed in Peking University First Hospital from January 2005 to October 2013 were selected,and the etiology composition and incidence of the children with ESRD were retrospectively analyzed.Diagnostic criteria for children with ESRD refer to the clinical practice guidelines for chronic renal disease (NKF/KDOQI),developed by the American kidney foundation in 2002.Results Eighty-six children with ERSD were enrolled including 53 cases of males,33 cases of females,with the male to female ratio of 1.61 ∶ 1.00 and the mean onset age was (7.08 ± 4.23) years old,and their average diagnosis age was(9.25 ±4.17) years old.The median duration of ERSD before diagnosis was 0.84(0.01-13.67)years.The main cause of ESRD was acquired renal disease,accounting for 43.02％ (37/86 cases),mainly the chronic glomerulonephritis (18/86 cases,20.93％) and nephrotic syndrome (16/86 cases,18.60％);followed by urinary congenital abnormity,accounting for 40.70％ (35/86 cases),in which the most common were renal dysplasia (18/86 cases,20.93％) and cystic renal disease (11/86 cases,12.79％).Children under 3 years old mainly showed congenital urinary tract abnormalities(6/10 cases,60.00％).But children over 3 years old mainly showed acquired renal diseases (37/76 cases,48.7％),and pathologic classification of glomerular disease were proliferative mesangial glomerulonephritis (6/23 cases,26.09％),focal segmental glomerulosclerosis (5/23 cases,21.74％) and interstitial nephritis(3/23 cases,13.04％).Conclusions The main etiology of ESRD is glomerular disease and congenital abnormal development of urinary system,therefore,more attention should be paid on the ultrasound screening of the urinary tract in the perinatal period and urine screening in children.There are great significances in reducing the incidence of ESRD and intervening actively the progression to chronic kidney disease.

Clinical and genetic features of X-linked Alport syndrome in men positive for the collagen Ⅳ α5 chain in epidermal basement membrane / 中华儿科杂志

<p><b>OBJECTIVE</b>To analyze the clinical and genetic features of X-linked Alport syndrome (XLAS) in men positive for the collagen α5(Ⅳ) chain in epidermal basement membrane.</p><p><b>METHOD</b>This was a retrospective study. Totally 725 families were diagnosed as Alport syndrome in Department of Pediatrics of Peking University First Hospital during January 1998 to December 2014, among them 450 patients were males with XLAS. Patients who met both of the following two criteria were included in this study. (1)Patients underwent α5(Ⅳ) chain staining in the epidermal basement membrane. (2)Mutations in COL4A5 gene were detected.Mann-Whitney test and χ(2) test were used.</p><p><b>RESULT</b>Totally 140 males with XLAS were included in this study, 18 cases were α5 (Ⅳ)-positive and 122 cases were α5 (Ⅳ)-negative. The two groups of patients were compared, the median age at analysis was 11.0 vs. 7.2 years (Z = -1.839, P = 0.066), the 24-hour urine protein was 1.50 vs. 0.57 g/d (Z = -1.212, P = 0.226), the rate of hearing loss was 28% vs. 53% (χ(2) = 3.619, P = 0.067), the number of patients progressed to end stage renal disease (ESRD) was 4 vs. 12 (χ(2) =2.377, P = 0.128), the median age of ESRD was 31.0 vs. 16.6 years (Z = -2.554, P = 0.011), the rate of missense mutations in COL4A5 gene was 67% vs. 52% (χ(2) = 1.424, P = 0.313).</p><p><b>CONCLUSION</b>Compared the two groups of patients with positive and negative staining for the collagen Ⅳ α5 chain in epidermal basement membrane, there was no significant difference in the proteinuria level, the rate of hearing loss and genotype of COL4A5 gene. But the patients with positive staining progressed to ESRD significantly later than the patients with negative staining.</p>

IgA nephropathy combined with hemangioma of bladder in children:a case report / 临床儿科杂志

Objective To explore the diagnosis of pediatric clinical hematuria disease. Methods The clinical data of one pediatric patient with IgA nephropathy combined with multiple bladder hemangioma were summarized and analyzed. Results For more than 6 years, 9-year-old female presented with repeated intermittent gross hematuria and persistent microscopic hematuria with the blood clot in urine after several respiratory tract infections. Routine urine test showed protein+++, RBC in full ifeld of vision/HP, and 0 . 54-1 . 02 g of 24 h urine protein quantitation. Early damage index of kidney is mainly based on microalbumin. The ultrasound showed no abnormal abdomen and urinary tract. Also there was no abnormality in enhanced urinary tract CT scan. Renal arteriography showed no ifstula or arteriovenous malformation. Pathological diagnosis of renal biopsy was focal proliferative IgA nephropathy. Cystoscopy examination suggested multiple hemangioma of bladder. Conclusion Bladder hemangioma is a rare condition in childhood. For children presented gross hematuria with blood clots, when the imaging ifnds no abnormalities or other diseases and the treatment of IgA nephropathy is unsatisfatry after diagnosis, the cystoscopy should be performed to exclude the possibility of bladder hemangioma.

Diagnosis and treatment of 6 cases of Dent’s disease / 临床儿科杂志

Objective To explore the diagnosis and treatment of Dent’s disease.MethodsThe clinical characteristics, treatment process and disease-causing gene mutation were retrospectively analyzed in 6 pediatric patients with Dent’s disease misdiagnosed of nephritic syndrome from January 2014 to August 2015.ResultsIn these 6 male patients aged 4.5-9.8 years old, the main clinical manifestations were nephropathy-level of proteinuria and transient low serum albumin (26-30 g/L) without obvious edema or high serum cholesterol. In 4 patients who had renal biopsy, 2 cases showed mesangial proliferative glomerulonephritis and other 2 cases showed focal segmental glomerulosclerosis. All of 6 patients were treated with at least one immunosuppressive agent after resistance to full dose of hormone and no changes in proteinuria were observed. After admission, the indexes of early renal damage and urinary protein electrophoresis pointed to low-molecular proteinuria. The ratio of alpha 1 micro albumin (α1-MG) / micro albumin (MA) (the early renal damage index) was?>?1, there was hypercalciuria, and renal function was normal. The B ultrasonography showed renal calciifcation in 2 patients. The ifndings in all the patients were in accord with the clinical diagnosis of Dent’s disease. Further genetic analysis conifrmed the presence ofCLCN5 gene mutation in these 6 patients.ConclusionAs a type of rare inherited renal tubular disorder, Dent’s disease is easily misdiagnosed, to which pediatricians need to pay attention. The early renal damage index, α1-MG/MA?>?1, can be regarded as one of the diagnostic criteria of renal tubular proteinuria.

Treatment of idiopathic membranous nephropathy in 35 children / 中华实用儿科临床杂志

Objective To investigate the prognosis and efficiency of glucocorticoid and immunosuppressor in the treatment of idiopathic membranous nephropathy(IMN)in children. Methods A retrospective analysis of 35 cases of biopsy - proven membranous nephropathy without secondary factors was performed,who were found present with ne-phrotic proteinuria and admitted to hospital from March 2004 to July 2013,to explore the efficiency of treatment with glucocorticoid and immunosuppressor and its prognosis. Results The 35 IMN cases included 18 boys and 17 girls,and the ratio was 1. 1∶ 1. 0. The mean age at onset was(11. 3 ± 0. 5)years with a range of 3. 0 - 17. 1 years. Five cases with gross hematuria,24 cases present with microscopic hematuria,8 cases with hypertension,1 case with chronic renal insufficiency,and 2 cases were complicated with thrombosis. According to membranous nephropathy staging criteria,9 cases(25. 7% )were in stage Ⅰ,16 cases(45. 7% )in stage Ⅱ,10 cases(28. 6% )in stage Ⅲ;about 94. 3%(33 / 35 cases)had mesangial cells and mesangial matrix with mild to moderate hyperplasia. They were all treated with glucocor-ticoid initially and one of them showed sensitive to flucocorticoid but developed flucocorticoid resistance after relapse, while all the others were flucocorticoid - resistant. Cyclophosphamide A(CsA)was introduced to 17 cases and at least lasted for 3 months,in which 13 cases(76. 5% )reached complete remission and 3 cases reached partial remission, while 1 case didn't achieve remission,and the mean time for proteinuria to disappear was(4. 9 ± 3. 7)months;5 cases were treated with Mycophenolate mefetil( MMF),among which 4 cases reached complete remission in 2 months,4 months,5 months,and 9 months separately,while 1 case reached partial remission. Cyclophosphamide(CTX)was intro-duced to 6 cases,in which the mean cumulative dosage was(91. 2 ± 46. 5)mg/ kg,among them 1 case(87 mg/ kg) reached complete remission,1 case(160 mg/ kg)partial remission,but 4 cases didn't achieve remission. One case reached remission after Rituximab(RTX)was introduced. One case got partial remission after Leflunomide(LEF)was introduced,and the complete remission rate was higher in those treated with combined therapy of glucocorticoid and CsA than those treated with glucocorticoid only(76. 5% vs 12. 5% ,P = 0. 004),but the total efficacy showed no difference (94. 2% vs 62. 5% ,P = 0. 081). The complete remission rate(76. 5% vs 38. 5% ,P = 0. 042)and total efficacy (94. 1% vs 61. 5% ,P = 0. 040)were higher in those with combined therapy of steroid and CsA than those treated with steroid and other immunosuppressor. The complete remission rate(76. 5% vs 16. 7% ,P = 0. 018)and total efficacy (94. 1% vs 33. 3% ,P = 0. 008)were also higher than those treated with steroid and CTX,but the complete remission rate(76. 5% vs 80. 0% ,P = 0. 687)and total efficacy(94. 1% vs 100. 0% ,P = 0. 773)showed no difference com-pared with those treated with steroid and MMF. Conclusions IMN shows glucocorticoid resistance mostly,while CsA had definite efficiency and may be better than CTX. And the efficiency of MMF should be noted.

Retrospective study of primary IgA nephropathy with crescent formation and/or rapidly progressive glomerulonephritis in children / 中华儿科杂志

<p><b>OBJECTIVE</b>IgA nephropathy is the most common type of glomerulonephritis in the world. Its clinical and pathological manifestations vary. A few of the patients with IgA nephropathy present with rapidly progressive glomerulonephritis (RPGN) and/or crescent formation. Their conditions are serious and acute, but there are few reports on their characteristics, treatment and outcome. This study aimed to analyze the clinicalopathological features, treatment and prognosis of primary IgA nephropathy in children, to provide a reference for clinical diagnosis and treatment.</p><p><b>METHOD</b>A retrospective study was conducted in children with primary IgA nephropathy with crescent formation and/or rapidly progressive glomerulonephritis admitted to our department from 2000 to 2014. The patients meeting the inclusion and exclusion criteria were included. Patients were divided into RPGN group and non-RPGN group according to the clinical manifestations, crescent formation group and non-crescent group, crescentic IgA nephropathy group and non-crescentic IgA nephropathy group according to renal biopsy. Their clinical manifestations and pathological features, treatment and prognosis were compared.</p><p><b>RESULT</b>A total of 265 patients were recruited, 10 patients (3.8%) had RPGN, 151 patients (57.0%) had crescent formation, 19 cases (7.2%) showed crescentic IgA nephropathy.Compared with non-RPGN group, RPGN group showed more gross hematuria, higher serum creatinine, lower creatinine clearance correction at biopsy and follow-up, and more crescentic IgA nephropathy (P<0.05). The percent of patients who received methylprednisolone pulse and blood purification therapy in RPGN group is higher than that of non-RPGN group (P<0.05). Compared with non-crescent group, crescent formation group showed more gross hematuria at biopsy and follow-up, higher serum creatinine at biopsy, lower creatinine clearance correction, more 24-hour urinary protein at biopsy and higher serum creatinine at follow-up (P<0.05). The percentage of patients received more methylprednisolone pulse, oral steroids, cyclophosphamide pulse in crescent formation group was higher than that of non-crescent group (P<0.05). Compared with non-crescentic IgA nephropathy group, crescentic IgA nephropathy group showed more RPGN percent, higher serum creatinine, more 24-hour urinary protein at biopsy (P<0.05). The percentage of patients who received more methylprednisolone pulse and blood purification therapy in crescentic IgA nephropathy group was more than non-crescentic IgA nephropathy group (P<0.05). At follow-up, 20.0% of the patients with RPGN and crescent nephritis returned to normal renal function and the percent of crescent glomerulonephritis but not RPGN was 71.4%, RPGN but not crescent glomerulonephritis was 80.0%, crescent formation but not crescent nephritis was 87.5%.</p><p><b>CONCLUSION</b>In primary IgA nephropathy with crescent formation and/or rapidly progressive glomerulonephritis, the patients with both RPGN and crescentic IgA nephropathy showed the worst clinical manifestations, its prognosis was worst while the patients with crescent formation showed the mildest clinical manifestations and best prognosis.</p>

A comparative study of three-dimensional laparoscopic and two-dimensional laparoscopic radical resection of rectal cancer / 中华普通外科杂志

Objective To evaluate the intraoperative advantage and short-term outcomes of three-dimensional laparoscopic surgery for rectal cancer.Methods The clinical data of patients who underwent radical resection for rectal cancer at Department of Colorectal Surgery,China-Japan Union Hospital of Jilin University from November 2013 to February 2014 were retrospectively analyzed.There were 20 patients undergoing three-dimensional laparoscopic surgery and 26 patients undergoing two-dimensional laparoscopic surgery.The following parameters were compared between the two groups:intraoperative factors,oncologic outcomes,and short-term surgical outcomes.Data were analyzed by SPSS 17.0 software packet,using t and x2 inspection.Results All the operations were perfomed successfully without conversion.Compared with the two-dimensional laparoscopic surgery group,the three-dimensional laparoscopic surgery group had shorter operative time [(97.2 ± 19.3) vs.(114.1 ± 22.6) min,t =2.680,P =0.010],less intraoperative blood loss [(13.5 ± 6.7) vs.(20.1 ± 12.7) ml,t =2.288,P =0.028],less stapler docking times [(1.4 ± 0.6) vs.(2.3 ± 0.8) number of times,t =4.962,P =0.000],earlier removal of urethral catheter [(2.2± 0.6) vs.(2.7 ± 0.8) d,t =2.401,P =0.021].There were no significant differences in the postoperative ventilation time,postoperative hospital stay,number of lymph node dissection (all P ＞ 0.05).Conclusions Three-dimensional laparoscopic compared with two-dimensional laparoscopic radical resection for rectal cancer has many advantages,such as shorter operative time,less intraopretive blood loss,high accuracy operation and earlier postoperative urine voiding.

A clinical comparative study on laparoscopic appendectomy vs open appendectomy / 中华普通外科杂志

Objective To compase laparoscopic vs open appendectomy in the treatment of appendicitis.Methods The clinical data of 1 716 appendicitis patients are studied in the form of retrospective summary,who were hospitalized in Jilin University China-Japan Union Hospital from 2009 to 2014.Patients were divided into laparoscopic appendectomy group and open appendectomy group.Duration of operation,surgical complications and postoperative recovery were evaluated.The chi-test and the student t test were used for statistics.Results More patients in open group with chronic lung disease,or a history of previous abdominal surgery than in the laparoscopic group (x2 =3.527,22.804,P ＜ 0.05);the postoperative deep vein thrombosis,intestinal obstruction,abdominal abscess and infection of incision in open group were more often seen than in laparoscopic group (x2 =4.179,4.71,7.351,8.766,P ＜ 0.05);Open group scored higher than laparoscopic group on the index of 24 hours of postoperative pain (t =-3.163,P =0.004);duration of surgery was similar (t =1.754,P =0.092 2);the laparoscopic group was better in recovery time of postoperative intestinal peristalsis,average length of scar and the average hospital stay (t =3.460,-15.335,-3.629,P ＜ 0.05).While the average hospitalization cost in open group is less than in the laparoscopic group (t =5.763,P =0.001).Conclusions Both laparoscopic appendectomy and open appendectomy were effective for the treatment of appendicitis,while laparoscopic appendectomy is superior to open procedure in reducing postoperative pain,postoperative complications promoting rapid recovery,shortening hospital stay and more cosmetic.