• Childhood Kidney Diseases
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• v.11 no.1
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• pp.16-23
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• 2007

Purpose : Hypogammaglobulinemia has been observed in nephrotic syndrome, but its pathophysiology remains unknown. We evaluated the relationship between the serum IgG and at bumin levels for children with minimal change nephrotic syndrome(MCNS). Methods : The levels of immunoglobulin G(IgG), albumin and total cholesterol of a total of 46 children with MCNS(proteinuria $>40mg/m^2/h$, and serum albumin level <2.5g/dL were analyzed. Results : The mean values of albumin, IgG and total cholesterol in MCNS children were $1.7{\pm}0.3g/dL,\;368{\pm}143mg/dL\;and\;431{\pm}78mg/dL$, respectively. There was an inverse correlation between the albumin values and the total cholesterol values(r=0.68, P=0.0001), whereas there was a direct-proportional correlation between albumin values and the IgG values(r=0.4, P=0.01). Conclusion : The IgG level is associated with albumin level, and it may reflect the severity of urinary protein loss in MCNS. Further studies are needed to evaluate this phenomenon.

• Clinical and Experimental Pediatrics
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• v.45 no.3
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• pp.302-310
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• 2002

Purpose : X-linked agammaglobulinemia(XLA) is an immunodeficiency caused by abnormalities in Bruton's tyrosine kinase(Btk), and is characterized by a deficiency of peripheral blood B cells. We studied cytoplasmic expression of Btk protein and analyzed the Btk gene in peripheral blood mononuclear cells(PBMC) from three XLA families in Korea. Methods : Heparinized venous blood samples were collected from four XLA patients and additional family members in three unrelated XLA families. Mononuclear cells were separated from their blood and the intracellular Btk protein was characterized by a flow cytometry. The mutation analysis was performed using direct sequencing. Results : Cytoplasmic expression of Btk protein in monocytes was not detected in the patients with XLA. We observed a novel deletion and two point mutations within introns(intron 1 and intron 18) resulting in alternative splicings. In XLA family 2, a 980 bp deletion(from intron 9+191 T to intron 10-215 C) including exon 10 was found in patient P2. He was the only sporadic case in this study, because his mother and brother showed a normal Btk expression by flow cytometry. Conclusion : These identified genetic alterations support the molecular heterogeneity of Btk gene in XLA disease. Additionally, by means of flow cytometric analysis, we diagnosed three hypogammaglobulinemia patients as XLA. Advancements in diagnostic methods has facilitated a prompt and definite diagnosis of this disease.