PURPOSE: Lipoprotein(a) is a genetically determined risk factor for atherosclerotic vascular disease and is elevated in patients with renal disease. Especially the patients with nephrotic syndrome exhibit excessively high Lp(a) plasma concentrations. Also the patients with end- stage renal disease have elevated Lp(a) levels. But the mechanism underlying this elevation is unclear. Thus, in this study, by measuring the level of serum Lp(a) in common renal diseases in children, we hoped to see whether there would be a change in Lp(a) in renal diseases other than nephrotic syndrome. Then, we figured out its implications, and looked for the factors that affect the Lp(a) concentrations. METHODS: A total of 75 patients(34 patients with hematuria of unknown etiology, 10 with hematuria and hypercalciuria, 8 with IgA nephropathy, 8 with poststreptococcal glomerulonephritis, 3 with Henoch-Schonlein nephritis, 7 with urinary tract infection, and 5 with orthostatic proteinuria) were studied. The control group included 20 patients without renal and liver disease. Serum Lp(a), total protein, and albumin levels, 24-hour urine protein and calcium excretions, creatinine clearance and the number of RBCs and WBCs in the urinary sediment were evaluated. Data analysis was performed using the Student t-test and a P-value less than 0.05 was considered to be statistically significant. RESULTS: Lp(a) was not correlated with 24-hour urine calcium and creatinine. Lp(a) level had a positive correlation with proteinuria and negative correlation with serum albumin and serum protein. Among the common renal diseases in children, Lp(a) was elevated only in orthostatic proteinuria(P<0.05). CONCLUSION: Lp(a) is correlated with proteinuria, serum protein, and serum albumin, but not with any kind of specific renal disease. Afterward, Lp(a) needs to be assessed in patients with orthostatic proteinuria and its possible role as a prognostic factor could be confirmed.
Calcium ; Child* ; Creatinine ; Glomerulonephritis ; Glomerulonephritis, IGA ; Hematuria ; Hope ; Humans ; Hypercalciuria ; Lipoprotein(a)* ; Liver Diseases ; Nephritis ; Nephrotic Syndrome ; Plasma ; Proteinuria ; Risk Factors ; Serum Albumin ; Statistics as Topic ; Urinary Tract Infections ; Vascular Diseases

PURPOSE: Lipoprotein(a) is a genetically determined risk factor for atherosclerotic vascular disease and is elevated in patients with renal disease. Especially the patients with nephrotic syndrome exhibit excessively high Lp(a) plasma concentrations. Also the patients with end- stage renal disease have elevated Lp(a) levels. But the mechanism underlying this elevation is unclear. Thus, in this study, by measuring the level of serum Lp(a) in common renal diseases in children, we hoped to see whether there would be a change in Lp(a) in renal diseases other than nephrotic syndrome. Then, we figured out its implications, and looked for the factors that affect the Lp(a) concentrations. METHODS: A total of 75 patients(34 patients with hematuria of unknown etiology, 10 with hematuria and hypercalciuria, 8 with IgA nephropathy, 8 with poststreptococcal glomerulonephritis, 3 with Henoch-Schonlein nephritis, 7 with urinary tract infection, and 5 with orthostatic proteinuria) were studied. The control group included 20 patients without renal and liver disease. Serum Lp(a), total protein, and albumin levels, 24-hour urine protein and calcium excretions, creatinine clearance and the number of RBCs and WBCs in the urinary sediment were evaluated. Data analysis was performed using the Student t-test and a P-value less than 0.05 was considered to be statistically significant. RESULTS: Lp(a) was not correlated with 24-hour urine calcium and creatinine. Lp(a) level had a positive correlation with proteinuria and negative correlation with serum albumin and serum protein. Among the common renal diseases in children, Lp(a) was elevated only in orthostatic proteinuria(P<0.05). CONCLUSION: Lp(a) is correlated with proteinuria, serum protein, and serum albumin, but not with any kind of specific renal disease. Afterward, Lp(a) needs to be assessed in patients with orthostatic proteinuria and its possible role as a prognostic factor could be confirmed.
Calcium ; Child* ; Creatinine ; Glomerulonephritis ; Glomerulonephritis, IGA ; Hematuria ; Hope ; Humans ; Hypercalciuria ; Lipoprotein(a)* ; Liver Diseases ; Nephritis ; Nephrotic Syndrome ; Plasma ; Proteinuria ; Risk Factors ; Serum Albumin ; Statistics as Topic ; Urinary Tract Infections ; Vascular Diseases

Maple syrup urine disease (MSUD) is an autosomal recessive disorder. Impaired activity of the branched-chain 2-oxo acid dehydrogenase complex causes accumulation of branched-chain L-amino and 2-oxo acid that can exert neurotoxic effects. MSUD presents heterogeneous clinical and molecular phenotypes. Severity of the disease, ranging from classical to mild variant types, is commonly classified on the basis of indirect parameters, e.g. onset, leucine tolerance and/or residual enzyme activity in cell. Since early 1990's, tandem mass spectrometry has been applied to newborn screening, because it is amenable to population-wide testing for a large number of disorders of fatty acid, organic acid, and amino acid metabolism. And so, we report a case of MSUD in 15 days old boy detected by newborn screening using tandem mass spectrometry.
3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) ; Acer* ; Humans ; Infant, Newborn* ; Leucine ; Male ; Maple Syrup Urine Disease* ; Mass Screening* ; Metabolism ; Phenotype ; Tandem Mass Spectrometry*