Objective:To understand clinical characteristics, treatment effects and prognosis of children with methylmalonic acidemia (MMA) presented with hemolytic uremic syndrome(HUS).Methods:The medical records of children with MMA were collected in Beijing Children′s Hospital, Capital Medical University from January 2012 to January 2019, the clinical manifestations, laboratory, imaging material, inspection results, renal pathological, gene analysis, treatment effect, and prognosis of MMA children with renal damage were analyzed, and were followed-up for 1-7 years.Results:Thirty cases were diagnosed as MMA with secondary renal damage.Eight cases(26.67%) showed as MMA-HUS.Age was from 1 month and 14 days to 12 years and 10 months old.There were 4 males and 4 females.The concentration of urine methylmalonic acid increased by 10-62 times.All were combined with hyperhomocysteine(HCY). The level of serum methylmalonic acid(1.5-11.8 mg/L), propylene carnitine(6.33-9.77 μmol/L)and the ratio of propylene /ethylene carnitine (0.24-0.29)were increased.Manifested as the mental and physical development retardation, anemia, jaundice, renal dysfunction, platelet reduction, hematuria, proteinuria in 8 cases, hypertension in 6 cases, frequent vomiting and convulsions in 2 cases.Two cases had a positive family history.Renal pathology showed that mesangial cells and mesangial matrix proliferation broadening, electron dense deposits no mesangial area, renal tubular epithelial cell swelling degeneration, immunofluorescence was negative.Two cases were genetically analyzed. One case was a CblC type MMACHC compound heterozygous mutation[c.80A>G(p.Q27R); c.217C>T(p.R73X)] and CblX type HCFC1 heterozygous mutation [c.3757G>A(p.R1253C)] double mutation; 1 case was a CblC type MMACHC compound heterozygous mutation[c.365A>T(p.H122L); c.609 G>A(p.W203X)]. Children diagnosed were treated with vitamin B 12, etc.Four cases of children gave up.The others, after treatment, were improved. Conclusions:MMA-HUS might be associated with multiple organ failure.Early diagnosis was the key, timely treatment could effectively control the disease, improve the prognosis.It should be followed up for ever.

Objective To investigate the treatment of atypical hemolytic uremic syndrome (aHUS) in their acute phase and relate the prognostic factors.Methods Twenty-eight patients with aHUS treated in Department of Nephrology,Beijing Children's Hospital Affiliated to Capital Medical University from January 2011 to March 2015 were collected,the outcomes of the treatment were summarized.Results All the patients were given plasma exchange (PE)treatment,21 patients with hemodialysis (HD) treatment;13 patients with H factor (FH) antibody were further treated with corticosteroid therapy,and 1 patient was treated with the combination of mycophenolate mofetil.Evaluation of patients' indices were conducted at month 3.Out of the 28 patients,there were 13 patients with complete remission;of the 14 patients showed improvement,6 patients were complicated with hypertension and 4 patients with renal dysfunction.One patient,with ongoing hemodialysis,did not show restoration of renal function.There was no death in children.Statistical analysis showed that the acute phase serum creatinine levels were (430.0 ± 124.7) μmol/L and (265.6 ± 90.8)μmol/L for the group with remaining kidney injury and the group with complete remission,respectively,the difference was statistically significant(P ＜0.01).The levels of FH for the 2 groups were (206.5 ± 134.9) mg/L and(415.4-±214.1) mg/L,and the difference was statistically significant (P ＜ 0.01) as well.Statistical analysis showed that differences were no statistically significant between the 2 groups of patients on their age,platelets,complement C3,complement C4,hemoglobin and lactate dehydrogenase (all P ＞ 0.05).For the group with positive antibody,its average serum creatinine was (346.4 ± 112.5) μmol/L.For the group with negative antibody,its average serum creatinine was (297.0 ± 89.3) μmol/L.The FH for group with positive antibody and group with negative antibody were (307.4 ±187.3) mg/L and (379.8 ± 203.5) mg/L,respectively.The differences were not statistically significant (all P ＞0.05).Conclusions PE is an effective treatment for aHUS at acute phase,and corticosteroid and immunosuppressive therapy are effective for patients with positive anti-FH antibody.For patients with severe kidney injury at acute phase,the possibility of long-term kidney damage is high.Low concentration of serum FH indicates a poor prognosis.

Objective To analyze the clinical features of pediatric sepsis with initial symptoms of autoimmune hemolytic anemia(AIHA) and acute renal failure.Methods Ten cases of pediatric sepsis with initial symptoms of AIHA and acute renal failure were selected from January 2000 to January 2014 in Department of Nephrology,Beijing Children's Hospital Affiliated to Capital University of Medical Science.The clinical data were retrospectively analyzed and long-time follow-up was taken.Results There were 8 boys and 2 girls of the 10 cases.The ages ranged from 8 months to 12.8 years.There were 8 children less than 6 years old having a prevalence of 80％.There were sudden dark urine and progressive anemia in all the cases,jaundice in 9 cases,abdominal pain and vomiting in 6 cases.Urine volume decreased in 7 cases and anuria in 3 cases.Four cases showed disorder of consciousness and 2 developed shock.Respiratory failure and disseminated intravascular coagulation happened in 1 case respectively.In terms of pathogens,2 cases were infected by mycoplasma and 1 case was infected by hemolytic streptococcus.The rest of the pathogen was unknown.The Coomb's test was 3 +-4 + positive.Serum urea nitrogen and creatinine gradually increased.High level total serum bilirubin and unconjugated bilirubin were shown in 8 cases and low level complement in 7 cases.Bone marrow films showed hyperplasia in all the cases.Renal biopsy was taken in 3 cases and no microthrombus was found.Corticosteroid was used in all 10 cases for 6 months.Blood purification was taken in 8 cases.Respiratory support was used in 4 cases.Nine recovered and 1 case gave up treatment.Further follow-up was taken for 2.2-8.1 years.Eight cases had normal urine and blood routine test and renal function.Relapse happened in 1 girl 1 year later.One case lost follow-up.Conclusions Once sudden hemoglobinuria,anemia and progressively decreased urine output occur in sepsis cases,the clinicians should consider AIHA and acute renal failure.Based on active infection control,the early use of steroids and blood purification treatment can improve the prognosis.

Objective To understand the clinical characteristics, treatment effect and prognosis of children with methylmalonic acidemia (MMA) combined with renal damage, and to provide experiences about how to improve the level of diagnosis and treatment.Methods The medical records of children with MMA were collected from January of 2007 to December of 2013 in Beijing Children's Hospital Affiliated to Capital University of Medical Sciences,while the clinical manifestations,laboratory findings, imaging material, inspection results were analyzed, and the renal pathological gene analysis, treatment effect, and prognosis of MMA children with renal damage were studied, and follow-up was carried out for 3 months up to 7 years.Results Among the two hundred and ninety-six cases of MMA,28 cases (9.5％) with renal damage,including 19 boys and 9 girls, 18 patients with hyperhomocysteinemia.Their ages varied from 2 days to 13 years old when confirmed.The first symptoms of 16 cases were proteinuria, hematuria, and edema, 9 cases were complicated with acute renal failure,5 cases were diagnosed as hemolytic uremic syndrome,6 patients were diagnosed as nephrotic syndrome, receiving enough glucocorticoids treatment without improvement.The routine examination of the urine showed that proteinuria (241-3 060 mg/d), methylmalonic acid levels and urinary protein were positively correlated (r =0.982, P =0.003), as urinary β2-microglobulin [(360.386 ± 231.496) μg/L], retinol binding protein [(338.537 ± 243.293) μg/L] increased.Extrarenal clinical manifestations were the spiritual, mental and physical development retardations, seizures, anemia etc.Two cases had a positive family history.Renal pathology showed mesangial cells and mesangial matrix proliferation broadening, no electron dense deposits in mesangial area, renal tubular epithelial cell swelling degeneration, and immunofluorescence was negative.Gene analysis of 3 cases showed exon1:c.80A ＞ G,p.Q27R and exon1 :c.365A ＞ T,p.H122L/c.609 G ＞ A,p.W203X.Children with MMA were treated with vitamin B12 treatment.Two cases of multiple organ failure died during hospitalization, and 2 cases died after leaving hospital.After treatment, the level of urinary methylmalonic acid was significantly decreased, while nervous system symptoms improved significantly, and the mental state and the renal function were improved.Conclusions MMA may be associated with kidney damage,usually with severe renal tubular and glomerular impairment.Early diagnosis is the key,and timely treatment can effectively control the disease, improve the prognosis.

Objective To analyze the clinical characteristics,prognosis and the risk factors in 48 children with lupus nephritis combined with renal insufficiency.Methods The clinical data from 48 pediatric lupus nephritis with renal insufficiency from January 2000 to January 2013 were retrospectively analyzed.Results Forty-eight cases showed renal insufficiency among 168 children with lupus nephritis,and the incidence rate was 28.6％.The age ranged from 5.8 to 16.2 years.The male to female ratio was 1.0 ∶ 2.2.Among 48 children,43 cases had hematuria,41 cases had heavy proteinuria,25 cases had anaemia and 23 cases had persistent hypertension.Totally 20 cases underwent renal biopsy,and among them,15 cases(75.0％) were diagnosed as diffuse proliferative lupus nephritis(class Ⅳ).The histological activity index was ≥7 in 13 cases and the histological chronicity index was ≥4 in 3 cases.Corticosteroid and/or cytotoxic drugs were used in all of 48 cases.Thirty-five cases had normal urine and renal function,5 cases had stable renal function with persistent proteinuria,4 cases developed into chronic renal failure and 4 cases died.Persistent hypertension (x2 =4.274,P =0.039),the time of starting therapy (x2 =28.830,P =0.000),and histologic chronicity index(P =0.008 8 by Fisher's exact probability test)were the prognostic factors.Conclusions Among pediatric lupus nephritis with renal insufficiency,class Ⅳ (diffuse proliferative lupus nephritis) is the most frequent finding.Persistent hypertension,the time of starting therapy,and histologic chronicity index are the prognostic factors.The outcomes of lupus nephritis with insufficiency can be improved by adequate and appropriate treatment.

Objective To explore the clinical features of invasive fungal infection in 27 children treated at nephrology department between 1999 and 2014.Methods Twenty-seven cases of invasive fungal infection at nephrology department were analyzed retrospectively.Results Candida urinary infection was found in 9 cases,pneumocystis carinii pneumonia were found in 8 cases,invasive pulmonary aspergillosis and urinary aspergillosis found in 4 cases and 1 case respectively,cryptococcus neoformans meningitis and pulmonary candidiasis found respectively in 2 cases,and pulmonary filamentous fungal disease was found in 1 case.These 27 cases showed different features of illness:10 primary nephrotic syndrome,7 secondary nephrotic syndrome,6 malformation of urinary development and 4 preterm birth ＜ 32 weeks gestational age with low birth weight.All of the cases had the history of taking antibiotics.Seventeen cases of them had used corticosteroid and cytotoxic drugs in a long-term.Sixteen cases had experienced invasive procedures.All children had fever in varying degrees,14 cases showed gasp,7 cases had progressive hypoxia and respiratory failure,and 5 cases developed into multiple organs failure.Chest computed tomographic (CT) imaging data showed diffuse ground-glass opacity with mosaic sign of pneumocystis carinii pneumonia(8 cases).The features of pulmonary aspergillosis included multiple nodules and cavity in bilateral lungs (4 cases).The radiologic findings showed patching lesions with indistinct edge and uncertained density of bilateral middle-lower lung fields with pulmonary candidiasis (2 cases).Full dose of antifungal drug was given to 23 cases of them,16 cases recovered completely,3 got better,4 cases died.Four cases gave up full dose antifungal therapy.Conclusions Long-term use of corticosteroid and cytotoxic drugs,use of broad-spectrum antibiotics,invasive therapies,such as indwelling centralvenous catheters,endotracheal intubation with mechanical ventilation,and preterm birth with low birth weight were risk factors in predicting invasive fungal infection.Chest CT findings were different among these cases.Even though not specific,the relatively differences were helpful to the differential diagnosis of these diseases.

Objective To explore the clinical feature of spontaneous bacterial peritonitis (SBP) in children with nephrotic syndrome (NS).Methods Eleven cases of SBP in children with NS from Department of Nephrology,Beijing Children's Hospital Affiliated to Capital University of Medical Science between January 2010 and June 2014 were analyzed retrospectively.The clinical features,laboratory data and efficacy of therapy were reviewed.Results In this study,12 episodes of primary peritonitis were detected in 11 patients.One patient had 2 attacks.There were 11 cases including 9 boys and 2 girls.The age of the patients ranged from 2 years and 11months to 14 years and 11 months.Nine cases of them received steroid therapy and/or cytotoxic drugs.Peritonitis was characterized by abdominal pain,mild abdominal pain occurred in 7 cases with slow onset.Ten cases had fever of varying degrees,8 cases had abdominal distention,5 cases had diarrhea and 4 cases had nausea and vomiting.Shock signs were present suddenly in 2 cases before therapy of antibiotics.Apparent edema and severe ascites were present in all cases.Five of them were presented with increasingly rapid severe ascites and showed no response to diuretic drugs.Blood investigation showed leukocytosis and high C-reactive protein.Serum albumin levels and IgG and CD4 ratio were very low in all cases.Ascites were like cloudy pus with raised neutrophil cells.Streptococcus pneumonia was positive in both blood culture and ascites culture in 2 cases.Cephalosporin was used empirically to all cases for 7 to 10 days in 9 cases and 4 weeks in 2 cases with positive blood culture.Paracentesis to release ascites fluid was performed in 5 cases with constant ascites.Eleven cases recovered from peritonitis completely.The proteinuria was negative in 2 cases after they recovered from peritonitis.Conclusions SBP was atypical in children with NS and sometimes patients might have to abdominal pain and rebound tenderness,which may be ignored and may induce deterioration suddenly and clinicians should be aware of it clearly.SBP could lead to relapse of NS and the cure of SBP by treatment could help the children recover from NS.

Objective To have a knowledge of the mutagenicity of contaminates in drinking water in a certain city. Methods Mutagenic activity of organic extracts of source water chloridized water in water plant and tap water from the city were detected with single cell gel-electrophoresis mouse primary hepatocytes in culture were used and Ames test. Results For Ames test the organic extract in 3 liters chloridized water in water plant and tap water samples produced positive result and that in 6 liters source water sample still gave a negative result. For single cell gel-electrophoresis test the organic extract in 0.1 liter chloridized water in water plant tap water and 0.5 liter source water produced positive result. Conclusion The sensitivity of single cell gel-electrophoresis with primary hepatocytes in detection of genotoxicity of cloridized water and source water is much higher than Ames test.

Objective To investigate the effect of acupuncture at Sanyinjiao with functional magnetic reso- nance imaging(fMRI),analyse the regulating effect of the acupoint Sanyinjiao on various brain areas,explore the mechanisms of Sanyinjiao(SP.6) acupuncture in treating diseases.Methods Eight right-handed healthy volun- teers were scanned at 1.5 Tesla magnetic resonance imaging scanner while they were aeupunctured at the right Sany- injiao acupoint.Image data were co-registered to correct head motion,spatial normalization and deconverlution analy- sis were conducted.Functional activation maps were generated.Results There observed certain activation in both sides of medial frontal gyrus,right middle frontal gyrus,left inferior frontal gyrus,both sides of paracentral lobule, precentral gyrus and postcentral gyrus,left inferior parietal lobule,both sides of preeuneus,right middle temporal gy- rus,right cingulated gyrus,posterior cingulated gyrus,both sides of superior temporal gyrus,transverse temporal gy- rus,insula and thalamus.Conclusion Acupuncturing the Sanyinjiao can lead to the functional changes in parietal lobe,frontal lobe,temporal lobe and insula,precuneus,cingulated gyrus,thalamus,which are closely related to the therapeutical effects of Sanyinjiao.The phenomenon that needling Sanyinjiao can activate certain brain areas proved the correlation between acupoint and corresponding brain cortices.

OBJECTIVETo evaluate the prognostic factors of ureter transitional cell carcinoma (TCC).

METHODSBetween January 2001 and December 2005 133 TCC patients were treated. And the data was retrospectively analyzed.

RESULTSA mean age of the 133 patients was 68 years (range 43 - 87 years) at diagnosis. Altogether the non-invasive ureter TCC was found in 42 patients (31.6%) and the invasive ureter TCC in 91 patients (68.4%). Invasive ureter TCC growth was more common in distally located tumors (82.5%) compared to mid (62.5%) and proximal ureter (47.1%). Tumor stage, grade and location of the tumor were all correlated with disease specific survival in a univariate analysis. In a multivariate Cox analysis, tumor stage and grade were significantly associated with disease specific survival.

CONCLUSIONSMore invasive tumors are found in ureter than in bladder. Ureter cancer is more frequently found in the distal part. Distally located ureteral tumors are more likely invading into the muscular cell layers compared to proximally located tumors. Tumor stage and grade are still the more important prognostic factors for ureter TCC.

Adult ; Aged ; Aged, 80 and over ; Carcinoma, Transitional Cell ; pathology ; surgery ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Prognosis ; Retrospective Studies ; Survival Analysis ; Ureteral Neoplasms ; pathology ; surgery