Table 1.

Clinical features of patients and TRPC6 mutations

Patient IDAge (Years)BiopsyPhenotypeAge at Diagnosis (Years)Response to Drugs (Steroids/CNI)ESRD (Yes/No)/YearsMutationProtein ChangeProtein Domain
18-PG10MCDSRNS4Negative/PositiveNoc0.374A>Gp. N125SANK1
19-PR15IgAN with MPGN-like patternSRNS14Negative/PositiveNoc0.374A>Gp. N125SANK1
5-RB18FSGSSRNS8Negative/NegativeNoc0.653A>Tp. H218LANK4
13-MS2CGSRNS1Negative/NegativeYes/2c0.2684G>Tp. R895LCYTOP
  • MCD, minimal change disease; IgAN with MPGN-like pattern, IgA nephropathy with a membranoproliferative glomerulonephritis (MPGN)-like pattern; FSGS, focal segmental glomerulosclerosis; CG, collapsing glomerulopathy; SRNS, steroid-resistant nephrotic syndrome; CNI, calcineurin inhibitor; ANK1, first ankyrin repeat; ANK4, fourth ankyrin repeat; CYTOP, cytoplasmic domain.