C1q nephropathy is a proliferative glomerulopathy with extensive mesangial deposition of C1q. A three-year old boy presented with a nephrotic-range proteinuria during an acute phase of Epstein-Barr virus (EBV) infection, and he had a family history of Dent's disease. The renal biopsy findings were compatible with C1q nephropathy. However, EBV in situ hybridization was negative. The CLCN5 gene analysis revealed an R637X hemizygous mutation, which was the same as that detected in his maternal cousin, the proband of the family. The causal relationship between EBV infection and C1q nephropathy remains to be determined. Moreover, the effects of underlying Dent's disease in the process of C1q nephropathy has to be considered.
Biopsy ; Child, Preschool ; Epstein-Barr Virus Infections/metabolism ; Glomerulonephritis/pathology ; Humans ; In Situ Hybridization ; Infectious Mononucleosis/*complications/*diagnosis ; Kidney Diseases/*complications/*diagnosis ; Kidney Tubules/*pathology ; Male ; Membrane Glycoproteins/*chemistry ; Mutation ; Nephrosis ; Proteinuria/*complications/*diagnosis ; Receptors, Complement/*chemistry ; Treatment Outcome

Cardiovascular mortality is associated with vascular calcification (VC) in hemodialysis (HD) patients. The present study was designed to find factors related with medial artery calcification on the plain radiography of feet by comparing C-reactive protein (CRP), plasminogen activator inhibitor type 1 (PAI-1) and lipid profile including oxidized low density lipoprotein (ox-LDL) and to elucidate associations among these factors in HD patients. Forty-eight HD patients were recruited for this study. VC in the feet was detected in 18 patients (37.5%) among total patients and 12 patients (85.7%) among diabetic patients. Diabetes, cardiovascular disease (CVD), pulse pressure, ox-LDL/LDL were higher and high density lipoprotein (HDL) was lower in patients with VC than in patients without VC. Negative associations were found between HDL and CRP, PAI-1. PAI-1 had positive association with ox-LDL/LDL. History of CVD was the only determinant of vascular calcification on the plain radiography of feet. Ox-LDL/LDL, HDL, CRP, and PAI-1 were closely related with one another in HD patients. History of CVD is the most important factor associated with the presence of VC and low HDL and relatively high oxidized LDL/LDL ratio may affect VC formation on the plain radiography in the feet of HD patients.
Aged ; C-Reactive Protein/metabolism ; Cardiovascular Diseases/blood/complications/diagnosis ; Female ; Foot ; Humans ; Kidney Failure, Chronic/blood/complications/diagnosis ; Lipoproteins, HDL/*metabolism ; Lipoproteins, LDL/*metabolism ; Male ; Middle Aged ; Plasminogen Activator Inhibitor 1/metabolism ; *Renal Dialysis ; Risk Factors

PURPOSE: Behcet's disease (BD) theoretically affects all sizes and types of blood vessels and results in multi-organ involvement. However, renal BD has not been fully characterized, though the kidneys are histologically rich in blood vessels. MATERIALS AND METHODS: A total of 2007 patients who fulfilled the diagnostic criteria for BD were enrolled in this study. We reviewed the medical records and test results of the BD patients and used univariate and multivariate logistic regression analyses to determine the clinical significance of renal involvement in BD. RESULTS: Among the 2007 BD patients, we noted hematuria in 412 (20.5%) and proteinuria in 29 (1.4%). Univariate analysis showed that the BD patients with hematuria were predominantly female and older, had higher erythrocyte sedimentation rates (ESRs), and more frequently presented with genital ulcerations. BD patients with proteinuria had higher ESR levels compared to BD patients without proteinuria. In the multivariate analysis, age, sex, and ESR were found to be significantly associated with hematuria in BD patients, whereas only ESR was associated with proteinuria in BD patients. We also found that IgA nephropathy was the most common pathologic diagnosis in 12 renal BD patients who underwent renal biopsies. CONCLUSION: We suggest that routine urinalysis and serum renal function tests be performed for the early detection of renal BD, especially in older female BD patients with recurrent hematuria, high ESR levels, and frequent genital ulcers, as well as in BD patients with proteinuria and high ESR levels.
Adolescent ; Adult ; Age Factors ; Aged ; Aged, 80 and over ; Behcet Syndrome/*complications/epidemiology/*metabolism ; Biopsy ; Female ; Glomerulonephritis, IGA/complications/diagnosis ; Hematuria/complications/diagnosis ; Humans ; Kidney/*pathology ; Kidney Diseases/*diagnosis ; Logistic Models ; Male ; Middle Aged ; Multivariate Analysis ; Proteinuria/complications/diagnosis ; Republic of Korea ; Young Adult

Adenocarcinoma, Clear Cell ; complications ; metabolism ; pathology ; surgery ; Adenoma ; pathology ; Adnexal Diseases ; pathology ; Adult ; Carcinoma, Renal Cell ; pathology ; secondary ; Cystadenoma, Papillary ; complications ; metabolism ; pathology ; surgery ; Diagnosis, Differential ; Fallopian Tube Neoplasms ; complications ; metabolism ; pathology ; surgery ; Female ; Follow-Up Studies ; Humans ; Keratin-7 ; metabolism ; Kidney Neoplasms ; pathology ; secondary ; Mucin-1 ; metabolism ; von Hippel-Lindau Disease ; complications ; metabolism ; pathology ; surgery

OBJECTIVEThe 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.

METHODSUrine 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.

RESULTSAll 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.

CONCLUSIONIn 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 ; Adult ; Amino Acid Metabolism, Inborn Errors ; complications ; diagnosis ; Child ; Female ; Gas Chromatography-Mass Spectrometry ; Homocystine ; blood ; Humans ; Infant ; Kidney Diseases ; etiology ; Kidney Function Tests ; Male ; Methylmalonic Acid ; urine ; Young Adult

BACKGROUND/AIMS: Several studies suggested that serum cystatin C (CysC) is more useful than serum creatinine (Cr) for the assessment of renal function in patients with liver cirrhosis. This study evaluated the clinical significance of CysC in patients with cirrhotic ascites and normal Cr level. METHODS: We enrolled patients with cirrhotic ascites and a normal serum Cr level (<1.2 mg/dL). GFR was measured by 99mTc-DTPA renal scan. Serum Cr, CysC, and Cr clearance (CCr) were measured on the same day. Significant renal impairment and severe renal impairment were defined as GFR <60 mL/min and GFR <30 mL/min, respectively. RESULTS: Eighty-nine patients with cirrhotic ascites were enrolled in the study (63 men and 26 women; age, 55+/-11 years). Forty-seven (52.8%) and 42 (47.2%) patients were in Child-Pugh grade B and C, respectively. Serum Cr and CysC levels and GFR were 0.8+/-0.2 mg/dL, 1.1+/-0.3 mg/L, and 73.4+/-25.5 mL/min, respectively. Significant and severe renal impairment were noted in 28 (31.5%) and 2 (2.2%) patients, respectively. GFR was well correlated with serum Cr, CysC, and e-GFRMDRD, while it was not correlated with e-GFRC&G. In multivariate analysis, only CysC was significantly correlated with GFR (beta, 45.620; 95% CI, 23.042-68.198; P<0.001). Serum CysC level was the only independent predictor for significant renal impairment. CONCLUSIONS: Significant renal dysfunction was not rare in patients with cirrhotic ascites, even their serum Cr level is normal. Serum CysC is a useful marker for detecting significant renal dysfunction in these patients.
Adult ; Aged ; Area Under Curve ; Biological Markers/blood ; Creatinine/blood ; Cystatin C/*blood ; Female ; Glomerular Filtration Rate ; Humans ; Kidney Diseases/complications/*diagnosis/metabolism ; Kidney Function Tests ; Liver Cirrhosis/*complications/metabolism ; Male ; Middle Aged ; Multivariate Analysis ; ROC Curve ; Severity of Illness Index ; Technetium Tc 99m Pentetate/diagnostic use

Paroxysmal nocturnal hemoglobinuria (PNH) is a progressive, systemic, life-threatening disease, characterized by chronic uncontrolled complement activation. A retrospective analysis of 301 Korean PNH patients who had not received eculizumab was performed to systematically identify the clinical symptoms and signs predictive of mortality. PNH patients with hemolysis (lactate dehydrogenase [LDH] > or = 1.5 x the upper limit of normal [ULN]) have a 4.8-fold higher mortality rate compared with the age- and sex-matched general population (P < 0.001). In contrast, patients with LDH < 1.5 x ULN have a similar mortality rate as the general population (P = 0.824). Thromboembolism (TE) (odds ratio [OR] 7.11; 95% confidence interval [CI] (3.052-16.562), renal impairment (OR, 2.953; 95% CI, 1.116-7.818) and PNH-cytopenia (OR, 2.547; 95% CI, 1.159-5.597) are independent risk factors for mortality, with mortality rates 14-fold (P < 0.001), 8-fold (P < 0.001), and 6.2-fold (P < 0.001) greater than that of the age- and sex-matched general population, respectively. The combination of hemolysis and 1 or more of the clinical symptoms such as abdominal pain, chest pain, or dyspnea, resulted in a much greater increased mortality rate when compared with patients with just the individual symptom alone or just hemolysis. Early identification of risk factors related to mortality is crucial for the management of PNH. This trial was registered at www.clinicaltrials.gov as NCT01224483.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Antibodies, Monoclonal/therapeutic use ; Antibodies, Monoclonal, Humanized/therapeutic use ; Area Under Curve ; Child ; Dyspnea/etiology ; Female ; Hemoglobinuria, Paroxysmal/*diagnosis/drug therapy/mortality ; Hemolysis ; Humans ; Kaplan-Meier Estimate ; Kidney Diseases/complications/diagnosis ; L-Lactate Dehydrogenase/metabolism ; Male ; Middle Aged ; Odds Ratio ; ROC Curve ; Registries ; Republic of Korea ; Retrospective Studies ; Risk Factors ; Thromboembolism/complications/diagnosis ; Young Adult