Table 1.

Clinical and pathologic phenotypes of patients bearing the homozygous p.P209L mutation.

FamilyOriginPatientSexAge at Onset of Proteinuria (yr)Proteinuria (g/d)Glomerular LesionsTubular LesionsAge at ESRD/CKD (Stage) (yr)Other Features
A TunisiaII-2F15NANDND15HBP
II-3F231.5FSGSStripes of tubulointerstitial fibrosis, atrophic tubules32HBP, myopia
II-4F15Non-nephrotic proteinuriaNDND27HBP
B TunisiaII-1F18PositiveNDND27HBP
II-2F18PositiveFSGSTubulointerstitial fibrosis26HBP, cerebral aneurysm, deafness
II-3M93.0FSGSNA16HBP, cerebral aneurysm
C AlgeriaII-1M222.5NDND22HBP
II-4F19FSGSStripes of tubulointerstitial fibrosis, atrophic tubules23HBP
D TunisiaII-3M182.9FSGSTubulointerstitial fibrosis27HBP
II-11F267.0MCNSFoci of atrophic tubules, thickened TBM35HBP
E TunisiaII-1F16Nephrotic-range proteinuriaFSGSNA17NA
F AlgeriaII-1M261.0FSGSSevere tubulointerstitial lesions, thickened TBMCKD (IV) 26HBP
G AlgeriaII-1F302.2FSGSTubulointerstitial fibrosis34Primary biliary cirrhosis
H PortugalII-2M14Non-nephrotic proteinuriaFSGSTubulointerstitial lesions, dedifferentiated tubules, thickened and multilayered TBM, atrophic tubules20HBP, severe scoliosis
II-3F11NANDND12Bilateral hip osteotomy
I MoroccoII-1F100.5Global sclerosisSevere tubulointerstitial fibrosis, atrophic tubules, thickened TBM, medullar cysts14HBP
142.1
II-2M261.5NDND32HBP
JPortugalII-1M110.25FSGSTubulointerstitial fibrosis, foci of atrophic tubules, thickened TBMCKD (III) 11HBP, elevated liver enzymes
  • Families A–G had a primary diagnosis of FSGS, whereas families H–J had a primary diagnosis of nephronophthisis. F, female; NA, not available; ND, not determined; HBP, high BP; M, male; MCNS, minimal-change nephrotic syndrome; TBM, tubular basement membrane.