Fig. 1

Radiographic and renal features of the proband. a Photograph of the index case at 10 years of age. b Radiograph of the left (L) hand at 5 years and 1 month of age shows cup-shaped metaphyses (blue arrowheads), cone-shaped epiphyses (yellow arrowheads), and short metacarpals. Bone age is consistent with chronological age. c Radiograph of right (R) foot at 5 years and 1 month of age shows shortened proximal phalanges with cup-shaped metaphyses (blue arrowhead) and short metatarsals with irregular metaphyses. d Radiograph of the right (R) femur showed bilateral coxa valga, broad femoral necks, abnormal femoral metaphyses, and mild bowing of the femoral diaphysis. e Renal glomeruli with prominent, periglomerular fibrosis; hematoxylin and eosin (H&E) stain; scale bar, 50 μm. f Tubulointerstitial fibrosis, chronic inflammation, tubular atrophy, and focal non-atrophic tubules, (upper right of panel); H&E; scale bar 50 μm. g Diffuse, severe tubulointerstitial fibrosis and tubular atrophy; Masson’s trichrome stain; scale bar 100 μm. h Focal non-atrophic proximal tubules with segmentally thin and duplicated (arrows) basement membranes; periodic acid-Schiff stain; scale bar 20 μm