| Main clinical features
|
chronic tubulointerstitial nephritis that generally progresses to end-stage renal disease (ESRD) in childhood, with intellectual disability
progressive insidious polyuria due to reduced urinary concentrating ability preceding the decline of renal function and associated with an irregularly thickened tubular basement membrane (TBM), focal interstitial fibrosis, later diffuse tubular-intersitial changes and medullary cystis
including (1) infantile form, with ESRD appearing before 5 years, (2) the juvenile form (mean age of onset 13 years), and (3) the young adult form
fibroblasts and tubular renal cells from affected individuals exhibit ciliogenesis defects probably resulting from an altered assembly of mother centriole called distal appendages (DAPs)., which would affect docking of altered mother centriole to the ciliary primary vesicle |