PMC4870939_01
a Glomeruli show essentially minor changes, but one glomerulus has segmental sclerosis (ss) and another glomerulus is obsolescent (og) in a localized area of tubular atrophy (ta). Periodic acid-silver methenamine stain, x48. b In this glomerulus segmental sclerosis with hyaline deposits (arrow) near the vascular pole is observed, but other portions show essentially normal appearance. Periodic acid-silver methenamine stain, original magnification x400. c This glomerulus appears almost normal, except for a segmental questionable increase in mesangial matrix (arrow). Periodic acid-silver methenamine stain, original magnification x400.
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F1
Under light microscopy, ten glomeruli and a localized area of tubular atrophy were found (fig. 1a). One glomerulus was obsolescent and in another there was segmental sclerosis with hyaline deposits near the vascular pole (fig. 1b). Other glomeruli were slightly enlarged and had essentially minor changes, but in several segments a questionable increased mesangium was observed (fig. 1c).
PMC4870939_02
PMC4870939_03
A heterozygous PAX2 mutation (exon 2; NM_003987.3:c.76dupG, p.Val26Glyfs*28) was identified in all three cases, but not in the wife of case 1.
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F2
A heterozygous PAX2 mutation (exon 2; NM_003987.3:c.76dupG, p.Val26Glyfs*28) was identified in all three cases, but not in the wife of case 1 (fig. 2).
Ophthalmoscopy revealed bilateral optic nerve atrophy in cases 1 and 3, but in case 2 it revealed bilateral glaucomatous cupping.
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F3
In addition, careful ophthalmoscopy revealed bilateral optic nerve atrophy in cases 1 and 3, but case 2 exhibited bilateral glaucomatous cupping (fig. 3).
a Segmental loss of podocyte, swollen endothelial cell (E), and vacuoles (v) in the mesangial cell (M) are observed. b Foot processes are well preserved; a large phagosome (Ph) and vacuoles (v) are found in the cytoplasm of the podocyte. c A large phagosome (Ph) in the mesangial cell and vacuole (v) containing swollen cell are observed. d Some mesangial vacuoles contain degenerating mitochondria (arrows m) and membranous debris (arrows md); a lipid-containing phagosome (Ph) is also found in the mesangial cell.
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F4
Foot processes were generally well preserved, but segmental loss of podocytes was observed (fig. 4a). Many podocytes had several vacuoles and some also had large phagosomes (fig. 4b). Several swollen endothelial cells containing vacuoles were also observed (fig. 4c). About half of the mesangial cells had many vacuoles; in some of these vacuoles, degenerating mitochondria and the debris of membranous structures were apparent (fig. 4d). Phagosomes were also occasionally observed in the mesangial cells (fig. 4c, d).