PMC2633182_01
Renal biopsy findings of both patients (A, Case 1; B, Case 2). The glomeruli showed mesangial hypercellularity in both cases, and diffuse increase of mesangial matrix was noted in Case 2. Tubules revealed focal mild atrophy or loss with focal moderate infiltration of mononuclear cells and mild fibrosis in interstitium in both patients (PAS staining. Magnification: x400).
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F1
An open renal biopsy was performed at 4 months of age, which showed diffuse mesangial proliferation (Fig. 1A, 2A). A kidney biopsy, which was done at 1 month of age, revealed diffuse mesangial proliferation (Fig. 1B, 2B).
Electron microscopic findings of the glomerulus in both cases (A, Case 1; B, Case 2). While the glomerular basement membrane (GBM) measured normal in average thickness with relatively smooth inner and outer contours in Case 1, diffuse thinning of GBM (100 microm) was noted in Case 2. No electron-dense deposits were found. Epithelial foot processes exhibited wide effacement (Magnification: x7,000 [A], x10,000 [B]).
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F2
An open renal biopsy was performed at 4 months of age, which showed diffuse mesangial proliferation (Fig. 1A, 2A). A kidney biopsy, which was done at 1 month of age, revealed diffuse mesangial proliferation (Fig. 1B, 2B).
Results of the NPHS1 gene analysis of both patients. Case 1 has two frame-shifting deletions, c.2155_2162 delCTGCACTG in exon 16 (A) and c.3250_3251insG in exon 24 (B). The former was inherited from mother, and the latter from father (data not shown). Case 2 has c.1381G>A mutation in exon 11 in one allele (C) and c.2242C>G in exon 18 in the other allele (D). The former was inherited from mother, and the latter from father (data not shown).
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F3
Genetic analysis of the NPHS1 gene revealed compound heterozygous frame-shifting mutations, 8-bp deletion in exon 16 (c.2156_2163 delTGCACTGC causing p.L719DfsX4), and 1-bp insertion in exon 24 (c.3250_3251insG causing p.V1084-GfsX12) (Fig. 3A, B). Genetic analysis of the NPHS1 gene revealed compound heterozygote mutations, a missense mutation in exon 11 (c.1381G>A causing p.R460Q) inherited from mother and a nonsense mutation in exon 18 (c.2442C>G causing p.Y814X) inherited from father (Fig. 3C, D).