PMC9315245_01
Renal pathological presentation of two probands. (A-D,F-I) Light microscopy. (A,F) Periodic Acid Schiff staining, x400 magnification. (B,G) Periodic acid-silver methenamine staining, x400 magnification. (C,H) Masson staining, x400 magnification. (D,I) Hematoxylin-eosin staining, x400 magnification. (E,J) Immunofluorescence.
fped-10-918373-g0001.jpg
PMC9315245_02_fped-10-918373-g0001.jpg
F1
Renal biopsy revealed glomerular segmental mesangial proliferative lesions, and immunofluorescence staining was IgA+ (Figure 1).
PMC9315245_02
Renal pathological presentation of two probands. (A-D,F-I) Light microscopy. (A,F) Periodic Acid Schiff staining, x400 magnification. (B,G) Periodic acid-silver methenamine staining, x400 magnification. (C,H) Masson staining, x400 magnification. (D,I) Hematoxylin-eosin staining, x400 magnification. (E,J) Immunofluorescence.
fped-10-918373-g0001.jpg
PMC9315245_02_fped-10-918373-g0001.jpg
F1
Renal biopsy revealed glomerular segmental mesangial proliferative lesions, and immunofluorescence staining was IgA+ (Figure 1).
The Sanger sequencing of two probands and their parents. The arrow shows the position of the de novo nonsense mutations. (A) Case 1. (B) Case 2.
fped-10-918373-g0002.jpg
PMC9315245_02_fped-10-918373-g0002.jpg
F2
Case 1 showed c.1461C>A, p.Tyr487* and case 2 showed c.1453 C>T, p.Gln485* (Figure 2).