PMC4792198_01
Histopathological findings of a kidney biopsy of our patient. (A) Electron microscopy showing peripheral glomerular loop with widespread podocyte foot processes effacement (arrows). Mesangium, endothelium, and glomerular basement membrane are normal. Scale bar = 2 mum. (B) Light microscopy showing a glomerulus with segmental glomerular sclerosis. This glomerulus shows the loss of capillary lumen and the adhesion of sclerotic lesions to the Bowman's capsule. No endothelial hypercellularity and no activated podocytes. Scale bar = 50 mum.
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Kidney biopsy showed the histopathological findings of FSGS (Figs. 1A and 1B; Supplementary Fig. 1).
(A) DNA-sequencing fluorograms demonstrating heterozygosity for c.1120 A < G in CD2AP in our patient. (B) Schematic representation of the CD2AP protein. Mutation positions are indicated by arrows. SH3, SH3 domains; PRD, proline-rich domain. Coiled-coil domain located at the C terminus.
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Mutational analysis revealed a heterozygote p.T374A, c.1120 A > G mutation in CD2AP (Fig. 2A). The mutation is located in the coding region of the proline-rich domain of CD2AP (Fig. 2B).
Treatment of our patient with CsA. (A) Decline of proteinuria measured in grams per day or as protein/creatinine ratio (g/g) in urine samples during the treatment of the patient with CsA. (B) Serum creatinine and eGFR (CKD-Epi) measured during the treatment of the patient with CsA.
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Serum creatinine levels and eGFR reached a plateau and did not decline during this treatment (Fig. 3).