Fig. 4.

Focal segmental glomerulosclerosis; 33 year old Caucasian man with impaired renal function (serum creatinine 1.8 mg/dL), nephrotic-range proteinuria (3.6 g/24 h) and normal albumin (4.3 g/dL). Genetic analysis showed heterozygosis in the COL4A3 gene for the variant c.4981C>T and heterozygous in the NPHS1 for a sequence variant designated c.133G>C. (A, B) Light microscopy showing segmental glomerulosclerosis sclerosis (thin black arrow: A, hematoxylin and eosin ×40 and B, periodic acid–Schiff ×40). (C, D) EM showing widespread foot process effacement; thick black arrow points to foot process effacement (C, D ×4500) (see Table 3, patient 6).