Child ; Humans ; Nephrology ; Pediatrics

Homocysteine has been confirmed as the independent factor for cardiovascular disease.Hyperhomocysteinemia remains the prominent manifestation in the cases of chronic kidney disease, atypical hemolytic anemia,methylmalonic aciduria combined with kidney injuries.As the recognition of the kidney injuries caused by homocysteine remains obscure, this review tries to show the synthesis, metabolism of homocysteine and the possible mechanism of homocysteine-induced heart and kidney injuries.Besides, summarize the current treatment of lowering-hyperhomocysteinemia in order to arouse the pediatricians' attention of homocysteine which has endothelial cell toxicity and causes the wide lesions in great, middle and small vessels, and thus improve the outcomes of the patients.

The complement system, the chief component of innate immunity, is not only required for host defense against pathogens and homeostasis, but also related to the pathogenesis and development of various kidney diseases. Recent study has shown that tissue-derived complement and immune cell-derived complement can each mediate local inlfammation. The comple-ment system acts as a bridge between innate and adaptive immunity. Furthermore it’s also a functional bridge between pathogenic humoral and cellular immune responses in an array of kidney diseases. Increasing evidence links inappropriate complement acti-vation and deifciencies of complement proteins to the pathogenesis of kidney autoimmune disease, ischemia-reperfusion injury, transplant rejection and complications in hemodialysis. The development of pharmacologic agents that target complement in pa-tients with this assortment of immune and/or inlfammatory kidney diseases has the potential to abrogate disease progression and improve patient health.

Humans ; Infant ; Intracellular Signaling Peptides and Proteins ; genetics ; Membrane Proteins ; genetics ; Mutation ; Nephrotic Syndrome ; etiology ; genetics ; WT1 Proteins ; genetics

Child ; Congresses as Topic ; Humans ; Kidney Diseases ; Nephrology ; Pediatrics

Objective To discuss the enrichment method of fetal DNA from maternal plasma on size-fractionated separation.Methods Antecubital venous blood (5 ml from each pregnant woman) was collected in EDTA-containing tubes.DNA was extracted from plasma and white blood cells, separately.The DNA was fractionated by agarose gel electrophoresis.Three sections of

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.

Objective To observe the glucocorticoid-induced osteoporosis (GIOP) in children with kidney diseases by quantitative ultrasound (QUS), and to analyze its influencing factors.Methods The tibia/radius bone mineral density(BMD) was checked obtained in 67 cases with childhood kidney diseases treated with glucocorticoid by QUS,BMD was measured in children over the age of 12 by dual-energy X-ray absorptiometry(DXEA) ,and BMD was measured with QUS consistency and different stages of osteoporsis were compared.The clinical data of gender, age,body mass index(BMI) ,administration duration and daily dosage of glucocorticoid were analyzed.The association between the duration of glucocorticoid use,and daily dosage of glucocorticoid and the different degrees of BMD was analyzed by Logistic regression analysis.Results Sixty-seven patients(male 45 ,female 22) were divided into 4 groups according to the reference standard of Asian children BMD data provided by Sunlight Company:the normal BMD group(41 cases), the mild osteoporosis group (18 cases), moderate osteoporosis group (5 cases), and severe osteoporosis group (3 cases).Both QUS and DEXA were highly correlated with BMD in patients measured (P ＞ 0.05).The duration of glucocorticoid treatment and daily dosage of glucocorticoid in 3 abnormal BMD groups were all significantly longer and larger than those of the normal BMD group (all P ＜ 0.05).Correlation analysis showed that BMI was positively correlated with the bone mass of the tibia(r =0.395 ,P ＜ 0.01).The duration of glucocorticoid treatment and daily dosage of glucocorticoid were negatively correlated with those of radius BMD(r =-0.474,-0.381 ,all P ＜ 0.01).Analysis showed that both the duration of glucocorticoid,and the daily dosage of glucocorticoid were the risk factors for GIOP.Conclusions QUS is a better method for evaluating of BMD and diagnosing of GIOP compared with DEXA in children.The daily dosage of glucocorticoid and the duration of glucocorticoid treatment are both the risk factors for GIOP.

Objective To study the polymorphisms of short tandem repeat (STR) loci in intron 1, 24, 13 and 22 (STR 1,24, 13, 22) of factor Ⅷ (FⅧ) gene in Chinese population, and establish single tube multiple fluorescent PCR method for rapid diagnosis of haemophilina A(HA). Methods Four STRs from genomie DNA of 220 females without blood relationship were amplified in a single tube using quadri-fluorescence PCR. Capillary electrophoresis was analyzed in ABI PRISM 310 Genetic Analyzer. DNA sequencing was used to assay the number of dinueleotide repeats. Gene diagnosis were performed in 96 HA families. Results It was observed that 7, 9, 10 and 7 different alleles were found in STR1, 24, 13 and 22, respectively. The PIC (polymorphism information contents) were 0. 3789, 0. 4055, 0. 5239 and 0. 4713 in STR1,24, 13 and 22, respectively, and the HR (heterozygesity rate) were 34. 55% (76/220), 38. 18% (84/220), 49. 55% (109/220) and 43.64% (96/220). In 96 HA families, the diagnosis rate of STR1, 24, 13 and 22 were 38. 54% (37/96), 38. 54% (37/96), 54. 17% (52/96), 42. 71% (41/96), respectively. Whereas it achieved 79. 17% (76/96) when combining the four STR markers. Conciusion The single tube multiple fluorescent PCR of four STR loci is an effective, simple, quick method for linkage analysis and gene diagnosis of haemophilia A.