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Ji-yun Yang

Publications and source records attributed to Ji-yun Yang.

16 recordsLinked to original sources
PubMed2005

[Renal impairment in patients with methylmalonic aciduria: a review of five cases].

OBJECTIVE: The renal impairment in children with methylmalonic aciduria has seldom been reported. To improve knowledge in this aspect, clinical data of five cases with methylmalonic aciduria with renal involvement were analyzed and the results are reported in this paper, which may be of some help in early diagnosis, treatment and in achieving favorable prognosis. METHODS: Urine methylmalonic acid was measured by gas chromatography-mass spectrometry analysis, if the content exceeded the normal range and vitamin B12 deficiency was excluded, the diagnosis of methylmalonic aciduria was confirmed. Homocysteine in plasma was also measured with fluorescence polarization immunoassay to make sure if concomitant homocysteinemia existed. From January 2002 to January 2005, five patients who had renal impairment were diagnosed as methylmalonic aciduria by urinary organic acid analysis. Among them, three were male, two were female, aged from seven months to 26 years, with average of 13 years. Three were presented to pediatric nephrology clinic with hematuria, proteinuria or edema, the other two were presented to pediatric neurology clinic first for psychomotor retardation. Their clinical features, laboratory findings, treatment regimens and prognosis were analyzed and summarized. RESULTS: All the five patients with methylmalonic aciduria were found to have various degrees of renal impairment, manifested as hematuria or proteinuria. Among them, two cases had gross hematuria and three had microscopic hematuria. Edema was found in two cases and hypertension occurred in one case. Early indicators of renal damage, such as microalbunminuria, N-acetyl-beta-D glucosaminidase, transferrin and alpha-microglobulin showed glomerular and tubular dysfunction. Clinically nephrotic syndrome was diagnosed in one case, the other four cases were diagnosed as glomerulonephritis, and two cases had renal failure. Renal biopsy was performed in one case, tubulo-interstitial damage and mesangial proliferation appeared. Mental retardation and psychomotor disorder were chief nervous system complaints. Leukodystrophy was the main finding on imaging. Megaloblastic anemia was found in three cases. All the five patients were cobalamin-responsive type. Renal impairment was alleviated following treatment, edema and gross hematuria as well as hypertension disappeared later, proteinuria diminished, renal function improved, central nervous system symptoms and hematopoietic function ameliorated. CONCLUSION: In patients with hematuria, proteinuria or renal failure of unknown origin, metabolic screening and urinary organic acid analysis should be performed as early as possible to confirm the diagnosis.

Adolescent↗
PubMed2004

[A novel mutation of NPHS2 identified in a Chinese family with steroid-resistant nephrotic syndrome].

OBJECTIVE: Autosomal recessive steroid-resistant nephrotic syndrome (SRNS) is a subgroup of familial nephrotic syndrome. A causative gene has been identified, that is NPHS2, in chromosome 1q25-31, which encodes podocin. This study aimed to detect NPHS2 mutation in a Chinese family with SRNS. METHODS: Renal biopsy was performed on the proband and her sibling for routine histologic and immunohistochemical investigation and electron microscopic examination. The expressions of podocin, nephrin, alpha-actinin and WT1 in glomeruli of the proband were detected by indirect immunofluorescence. Peripheral blood samples were collected for genetic analysis from the proband and her parents, and 53 adults with normal urinalysis. Genomic DNA was isolated from peripheral blood leucocytes. Eight exons of NPHS2 were amplified by polymerase chain reaction. Mutational analysis was performed using denaturing high-performance liquid chromatography (DHPLC) and DNA fragments with aberrant elution profiles of both strands revealed by DHPLC were re-amplified and sequenced directly. RESULTS: The histologic findings on kidney biopsies were focal segmental glomerulosclerosis. In controls, the distribution of staining with P35, rabbit against a human podocin recombinant protein (amino acids 135 - 383 = all the C-terminal part of the protein downstream the transmembrane domain), and P21, rabbit against a human podocin recombinant protein (amino acids 15 - 89 = all the N-terminal part of the protein upstream the transmembrane domain) showed a linear pattern along glomerular capillary walls on glomeruli, and the fluorescent intensity of the staining with P35 was intensely positive. The fluorescent intensity of the staining with P21 was positive. In the proband, the distribution of the staining with P35 showed uneven and nonlinear, and the fluorescent intensity of the staining with P35 was weakly positive. The staining with P21 was negative. The area, location, distribution and fluorescent intensity of the staining with nephrin, alpha-actinin and WT1 on glomeruli of the proband were the same as those in the controls. The DHPLC elution profiles of exon 4 of NPHS2 from the proband and her parent were aberrant. The chromatograms by sequencing detected in the exon 4 of NPHS2 showed a composite heterozygous mutation of both 467_468insT and 503G > A in the proband, a heterozygous mutation of 503G > A in her father, and a heterozygous mutation of 467_468insT in her mother, respectively. CONCLUSION: The study demonstrated for the first time a novel mutation, 503G > A, of NPHS2 in Chinese kindred with autosomal recessive SRNS. A significantly decreased or negative expression was also revealed in glomeruli of the proband stained with two kinds of anti-podocin antibodies.

Actinin↗
PubMed2004

[Relationship between podocyte molecule's distribution and expression, foot process morphology and proteinuria].

OBJECTIVE: To investigate the association between nephrin, podocin and alpha-actinin of the glomerular podocyte molecules, the morphometric change of podocyte foot process and the development of proteinuria. METHODS: Puromycin aminonucleoside (PAN) nephrosis was established. Immunofluorescence staining, image analysis and real time quantitative PCR were employed to study the distribution and quantitation of glomerular expression of nephrin, podocin and alpha-actinin. Morphometric methods were applied to evaluate the morphology change of podocyte foot processes under electron microscopy. RESULTS: (1) Before the onset of proteinuria, 2 days after PAN injection, the podocyte foot process became swollen nephrin and podocin staining were changed into discontinuous pattern accompanied by the decrease of podocin staining intensity. The foot process became more swollen on day 5,and podocin intensity continued to decrease. Meanwhile, nephrin decreased significantly both in protein intensity and at mRNA level. (2) When heavy proteinuria [(130.8+/-30.7) mg/d, P=0.02] occurred, complete effacement of podocyte foot processes was revealed; both podocin and nephrin staining intensity decreased dramatically(P<0.01), and no linear staining could be observed; nephrin and podocin mRNA gained back. (3) During the recovery of proteinuria, the foot process morphology recovered stepwise; both the intensity of nephrin and podocin increased. When proteinuria disappeared, the podocyte foot process reappeared; podocin immunofluorescence intensity recovered whereas nephrin did not; the intensity of alpha-actinin increased significantly and the distribution changed too. (4) Podocyte foot process volume density correlated negatively with nephrin(r(nephrin)=-0.78, P=0.000 1) and podocin immunofluorescence intensity(r(podocin)=-0.76, P=0.000 1), respectively. CONCLUSION: Before the onset of proteinuria, the first response of podocyte is the swollen foot process, the distribution change of nephrin and podocin and the decreased podocin intensity. There was close relationship between nephrin, podocin protein level and distribution pattern with the development of proteinuria and podocyte foot process effacement, whereas no major role was found for mRNA of nephrin and podocin. Our results suggest that proteinuria might occur after series of events of nephrin and podocin distribution change, their protein and mRNA expression level decrease, and morphology change of podocyte foot process.

Actinin↗
PubMed2004

[Antineutrophil cytoplasmic autoantibody positive vasculitis induced by propylthiouracil: a case report].

OBJECTIVE: Propylthiouracil (PTU) as a drug used during the treatment of hyperthyroidism could induce antineutrophil cytoplasmic autoantibody-positive vasculitis. Here the author reported a childhood case of antineutrophil cytoplasmic autoantibody-positive vasculitis induced by PTU, which is rarely described. METHODS: The diagnosis was made according to the symptoms, signs, serum markers and renal biopsy, and the relevant literature was reviewed. RESULTS: The 12-year-old girl presented with gross hematuria, proteinuria, renal function damage [Ccr 52.46 ml/(min. 1.73 m(2))], positive antineutrophil cytoplasmic autoantibody (ANCA-MPO) (MPO ELISA 140%) and a vasculitis lesion in the renal biopsy sample. She had been treated with PTU for 5 years because of Graves disease. After the diagnosis, the PTU was withdrawn, and prednisone (40 mg/d) and cyclophosphamide (25 mg, Bid) were applied. Three weeks after the therapy with prednisone and cyclophosphamide the gross hematuria disappeared. Three months after the treatment the renal function returned to normal [Ccr 124 mg/(min.1.73 m(2))], and the titer of ANCA-MPO decreased from 140% to 57%. CONCLUSION: PTU may induce antineutrophil cytoplasmic autoantibody positive vasculitis. A right diagnosis and treatment can improve its prognosis of the disease.

Antibodies, Antineutrophil Cytoplasmic↗
PubMed2004

[Clinicopathological analysis of IgA nephropathy with crescentic formation in childhood].

OBJECTIVE: To understand the clinical and pathological characteristics of IgA nephropathy (IgAN) with crescentic formation in children. METHODS: Clinicopathological data of 29 children with IgAN accompanied by crescents were analyzed. These patients were divided into two groups according to the percentage of glomeruli affected by crescents more or less than 50%, and their data were compared. RESULTS: (1) CLINICAL FEATURES: all the patients had hematuria and proteinuria, and macrohematuria (86%) and proteinuria were also common, protein excreted in urine was more than 1 g per day in 76% of the patients. The patients with edema, hypertension, and renal insufficiency were less than fifty percent. Nine patients in Group A (glomeruli affected by crescents > or = 50%) were crescentic IgAN. Significantly more cases in Group A had persistent macrohematuria, hypertension and renal failure than in Group B (glomeruli affected by crescents < 50%) (P < 0.05), with especially severe proteinuria (P < 0.01). It was easy to find nephritic syndrome in Group A, and asymptomatic hematuria combined with proteinuria in Group B. (2) Renal pathology: the glomeruli were affected by crescents from 5% to 85%. There were 52% to 85% in Group A, and 5% to 40% in Group B. Most crescents were cellular. All the cases had a diffuse mesangial proliferation and tubular-interstitial injury to different degree. Three cases had crescentic IgAN. Glomerulosclerosis was significantly more often seen in Group A (P < 0.05) and tuft adhesion was more frequently seen in Group B (P < 0.05). (3) Immunofluorescence: All the patients presented deposition of IgA, IgM and C3. There were 45% specimens combined with the deposition of IgG. Five cases showed 'full house' (17%), four of them were in Group A. None had IgA deposition alone. CONCLUSION: The main clinical feature of IgAN with crescentic formation were hematuria combined with proteinuria, especially persistent gross hematuria and severe proteinuria. All of them showed diffuse mesangial proliferation and tubular-interstitial injury in morphology of kidney. Most of them had tuft adhesion. The main type of immunofluorescence were IgA + IgM and IgA + IgM + IgG deposition. Some showed 'full house' phenomenon. The clinical manifestation and renal lesions of IgAN with diffuse crescentic formation were worse than IgAN with glomeruli affected by crescents < 50%.

Adolescent↗
PubMed2004

[Clinical and pathological characteristics of focal segmental glomerulosclerosis in children].

OBJECTIVE: To investigate the clinical and pathological characteristics of focal segmental glomerulosclerosis (FSGS) in children. METHODS: The data of 38 children,aged from one and half to 15 years, 25 boys and 13 girls, with primary FSGS were studied retrospectively. RESULTS: Majority of the cases in this study were school-aged children. The average age of initial onset was 8.9 +/- 3.68 years. The ratio of boys to girls was 1.92. The clinical manifestation included isolated proteinuria in 3 cases, proteinuria and hematuria in 1 and nephrotic syndrome in 34 (simple type in 16 and nephritic type in 18). Of 38 cases, 24 (63%) presented with hematuria, 11 (29%) with hypertension and 7 (18%) with decreased creatinine clearance. The pathologic classification included perihilar variant in 17 cases, peripheral variant in 14 and tip variant in 7. The predominant clinical feature of children with tip variant was simple type of nephrotic syndrome (86%). Microscopic hematuria was not common (29%). Blood pressure and renal function were normal. The children with diffuse mesangial hypercellularity superimposed on changes of FSGS (in 21 of 38 cases) were more likely to have hematuria (76%) and less simple nephrotic syndrome (30%). The initial treatment response to prednisone in 34 cases with nephrotic syndrome showed sensitive in 12 cases, resistant in 21 and unknown in 1. Transition from sensitive to resistant occurred in six of 12 children. Three of 4 cases with non-nephrotic syndrome showed no response and the remaining one had unknown response. It was found that 44% of children who received cyclophosphamide and 83% of children who received pulse methylprednisolone and pulse cyclophosphamide or cyclosporin A in addition to oral steroids had complete or partial remission. Correlation analysis showed that the level of proteinuria after treatment was correlated directly with renal tubulointerstitial lesion and renal function (Pr = 0.48, P < 0.05; Pr = 0.45, P < 0.05). CONCLUSION: FSGS was common in school-aged children. The predominant presenting feature was nephrotic syndrome. Hematuria was common. Hypertension and renal insufficiency were less frequently seen. The renal biopsy showed multiple variants. Pulse methylprednisolone and pulse cyclophosphamide or cyclosporin A treatments showed relatively good response.

Adolescent↗
PubMed2004

[Analysis of 1268 patients with chronic renal failure in childhood: a report from 91 hospitals in China from 1990 to 2002].

OBJECTIVE: Chronic renal failure (CRF) of childhood is not rare. The prognosis of CRF is very poor because of severe systemic complications. A nation-wide survey was conducted and data of hospitalized children (younger than 14 years old) with CRF during the period of 1990 to 2002 were analyzed. The aim was to investigate the epidemiology, natural history, clinical-pathological characteristics, treatment and outcome of the hospitalized children with CRF. METHODS: Questionnaires concerning children with CRF were designed and distributed to the doctors of 91 hospitals in China. The criterion of CRF was creatinine clearance (CCr) < 50 ml/(min x 1.73 m(2)). The data were collected and analyzed. RESULTS: From January 1, 1990 to December 31, 2002, 1658 hospitalized children were diagnosed as CRF. The average annual cases of childhood CRF accounted for 1.31% (ranged from 0.72% to 1.75%) of the hospitalized cases with urologic-kidney diseases. In a comparison between 1990 - 1996 and 1997 - 2002, there were significant increases in the average annual number of cases of childhood CRF and the case ratio of CRF to urologic-kidney diseases (82 +/- 27 vs. 181 +/- 45 and 0.98 +/- 0.21 vs. 1.56 +/- 0.17, respectively, P < 0.001). Complete records were available for 1268 patients. The male to female ratio was 1.49:1. The mean age at the disease onset was 8.18 years. The mean duration of pre-diagnosis of CRF was 2.53 years. In this study, the main primary renal diseases causing CRF were chronic glomerulonephritis and nephrotic syndrome (52.7%). One-fourth of all cases had congenital and hereditary renal diseases, and the majority were renal hypoplasia and dysplasia. The main manifestations of CRF were anemia, gastrointestinal disorders, edema, hypertension and growth retardation. The mean serum creatinine and BUN were 594.7 micromol/L and 39.1 mmol/L, respectively. The cases with renal function >or= grade IV accounted for 80% of all cases. By renal ultrasound scanning, one-third of CRF children were found to have renal atrophy and a part of patients had cystic disorder. Most of the cases received conservative treatment. Dialysis therapy (including 66.5% of hemodialysis and 33.5% of peritoneal) was given to 15.8% of the patients. Twenty-nine cases received renal transplantation. The rate of graft survival was 93.1%. Follow-up was carried out for to 230 cases, the mean duration of follow-up was 2.36 years. One hundred and sixty-seven patients died during hospitalization over the 13-year review period. The main causes of death were cardiac failure and infections in addition to uremia. CONCLUSION: The incidence of CRF in children showed an increasing trend year after year. The main age of onset of the disease was school-age. The main primary renal diseases causing CRF were acquired renal diseases. Conservative treatment was the main therapy of CRF, but renal replacement therapy was initiated in some of the cases. The obvious difference between follow-up cases and lost cases warrants the need to establish a management system of childhood CRF.

Adolescent↗
PubMed2003

[Analysis on association of glucocorticoid receptor gene polymorphism with steroid-resistance in idiopathic nephrotic syndrome of children].

OBJECTIVE: The nephrotic syndrome is defined by heavy proteinuria, edema, hypoalbuminemia, and hyperlipidemia. Idiopathic nephrotic syndrome (INS) mainly occurs in children, which is generally treated with glucocorticoids. The majority of patients are steroid-sensitive (SSINS) while steroid-resistance occurs in a subset of NS children (SRINS). Although intensive efforts have been undertaken to study the associations between SRINS and renal pathological changes, pharmacokinetics, and the GR density and binding affinity, the mechanisms underlying steroid-resistance are still not elucidated entirely. The authors hypothesized that it might be associated with polymorphisms in the glucocorticoid receptor gene (NR3C1). The study aimed to screen the NR3C1 gene for polymorphisms in genomic DNA samples from SRINS, SSINS children and control group, and to analyze the association of the polymorphisms in the NR3C1 gene and SRINS of children. METHODS: Totally 39 SRINS and 67 SSINS children (81 males and 25 females with the mean age of 7 years) were involved in the study. Umbilical cord blood of 62 normal neonates and peripheral blood of 2 healthy volunteers were selected as controls. Genomic DNA was isolated from peripheral blood lymphocytes of all subjects. All the NR3C1-coding exons and intron-flanking portions were amplified by polymerase chain reaction (PCR). For polymorphism screen, PCR products were analyzed by denaturing high performance liquid chromatography (DHPLC). DNA fragments with aberrant elution profiles were re-amplified and sequenced directly. RESULTS: Twelve aberrant elution profiles were identified with DHPLC in SRINS, SSINS and controls. Among them, 6 previously reported polymorphisms and 6 novel polymorphisms were confirmed by sequencing (198G > A, 200G > A, IVSD-16G > T, 1896C > T, 2166C > T, 2430T > C; novel, 1206C > T, 1374A > G, IVSG-68_IVSG-63delAAAAAA, 2193T > G, IVSH-9C > G, 2382C > T), and 3 groups of SNPs were in complete linkage disequilibrium, which resulted in 3 different haplotypes ([198G > A + 200G > A], [1374A > G + IVSG-68_IVSG-63delAAAAAA + IVSH-9C > G + 2382C > T], [1896C > T + 2166C > T + 2430T > C]). The last two genotypes were first reported. The genotype frequencies of the 2 novel haplotypes were 10.3% vs 1.5% in SRINS and SSINS, and 15.4% vs 7.5% in SRINS and SSINS, respectively. Other polymorphisms were relatively rare detectable both in patients and controls. CONCLUSION: Twelve polymorphisms in the NR3C1 gene were detected with the technique of DHPLC, of which six polymorphisms were identified at the first time. Two types of newly found haplotypes were associated with steroid-resistant idiopathic nephrotic syndrome of children, which might be responsible for steroid-resistance in partial idiopathic nephrotic syndrome of children.

Adolescent↗
PubMed2002

[Effect of NF-kappa B pathway on apoptosis of hepatic carcinoma cell line-7721 induced by TNF-alpha].

BACKGROUND & OBJECTIVE: It was proved that nuclear factor-kappa B play an important role in the activation of immune cell, anti-virus, various stress reaction, and regulation of apoptosis, etc. The objective of this study was to investigate the effect of NF-kappa B signal-transduction pathway on apoptosis of hepatic carcinoma cell line-7721 induced by TNF-alpha. METHODS: The activation of TNF-alpha on NF-kappa B conduction pathway was determined with ELISA and immunohistochemistry. Then the activation of TNF-alpha was blocked with TPCK. Flow cytometry was used to detect apoptosis. RESULTS: 1. TNF-alpha could activate the NF-kappa B conduction pathway. 2. TPCK could inhibit the activation of NF-kappa B induced by TNF-alpha. 3. Inactivation of NF-kappa B by TPCK could enhance apoptosis induced by TNF-alpha. CONCLUSION: NF-kappa B conduction pathway of 7721 cell takes part in anti-apoptosis and plays an important role in the tolerance on cytotoxicity of TNF-alpha of 7721 cell. Inhibition of NF-kappa B conduction pathway may has potential value in tumor treatment.

Apoptosis↗