Group | Family-Individual | Gender | Mutation (Amino Acid Exchange) | Age of Onset (yr) | Initial Symptoms | Biopsy | Steroid Therapy | CP/CsA Therapy | ESRD (yr after Onset) | KTx (yr after Onset) | Relapse of FSGS after KTx |
---|---|---|---|---|---|---|---|---|---|---|---|

^{a} Group A, patients with steroid-resistant nephrotic syndrome (NS) (SRNS) and mutations in both alleles of NPHS2; P-AS, intermittent low-grade proteinuria progressing to acute NS; AR, acute rejection; AS, acute symptoms of NS; group B, patients with SRNS, mutations in both alleles of NPHS2, and CNS; group C, patients with SRNS and a single heterozygous sequence variant; CNS, histology of congenital NS; CP, cyclophosphamide; CR, chronic rejection; CsA, cyclosporine A; group D, patients with steroid-sensitive NS (SSNS) and a single heterozygous sequence variant; DMS, diffuse mesangial sclerosis; (h), heterozygous; (H) homozygous; IgM, IgM nephropathy; KTx, kidney transplantation; MCNS, minimal-change glomerulonephritis; MP, mesangioproliferative glomerulonephritis; N, no; (N), no remission; ND, not done; P, intermittent low grade-proteinuria; (P), partial remission; (R), complete remission; SS, steroid-sensitive; SS-SR, steroid-sensitive progressing to steroid-resistant; SR, steroid-resistant; Y, yes; ?, no data. | |||||||||||

^{b} Mutations for these patients were previously reported ((14)). | |||||||||||

A | 236-1^{b} | F | G413A/R138Q (H) | 2.5 | AS | FSGS | SR | ND | Y (11.4) | Y (13.5) | N (3.7) |

A | 260-1^{b} | M | G413A/R138Q (H) | 4.3 | AS | ? | SR | CP (N) | Y (4.9) | Y (5.0) | N (10) |

A | 260-2^{b} | M | G413A/R138Q (H) | 1.0 | AS | ? | SR | CP (N) | Y (7.2) | Y (8.6) | N (10) |

A | 330-1^{b} | F | G686A/R229Q (h)-C871T/R291W (h) | 3.5 | ? | FSGS | SR | CsA (P) | Y (21.2) | N | N |

A | 330-2^{b} | M | G686A/R229Q (h)-C871T/R291W (h) | 3.0 | AS | FSGS | SR | ND | Y (14.8) | Y (17.7) | AR (0.0) |

A | 348-1^{b} | M | G413A/R138Q (H) | 3.3 | AS | FSGS | SR | ND | N | ||

A | 348-2^{b} | M | G413A/R138Q (H) | 2.0 | AS | FSGS | SR | ND | Y (?) | Y (13, 36) | CR (22.0) |

A | 370-1^{b} | M | G686A/R229Q (h)-C851T/A284V (h) | 24.0 | P-AS | FSGS | SR | CsA + CP (N) | N (3) | N | N |

A | 370-2^{b} | F | G686A/R229Q (h)-C851T/A284V (h) | 9.0 | P-AS | FSGS | SR | ND | N (8.0) | N | N |

A | 398-1^{b} | F | G413A/R138Q (H) | 2.8 | AS | FSGS | SR | CsA (N) | Y (2.6) | Y (3.3) | N (6.7) |

A | 460-1^{b} | F | G413A/R138Q (H) | 2.5 | AS | MCNS | ND | ND | Y (8.5) | Y (9.7) | N (2.9) |

A | 460-2^{b} | M | G413A/R138Q (H) | 5.4 | AS | MCNS | SR | CP (N) | Y (5.7) | Y (6.4) | N (6.4) |

A | 489-1^{b} | M | G686A/R229Q (h)-C851T/A284V (h) | 11.8 | AS | FSGS | SR | CsA (N) | N (4.4) | N | N |

A | 489-2^{b} | F | G686A/R229Q (h)-C851T/A284V (h) | 3.5 | AS | FSGS | SR | CsA (N) | Y (7.1) | N | N |

A | 747-1^{b} | M | G413A/R138Q (H) | 1.8 | AS | FSGS | SR | ND | Y (2.0) | Y (3.1) | N (3.7) |

A | 747-2^{b} | M | G413A/R138Q (H) | 3.8 | AS | FSGS | SR | CsA (P) | N (2.0) | N | N |

A | 763^{b} | F | G538A/V180M (H) | 16.6 | AS | FSGS | SR | CsA (?) | Y (3.5) | N | N |

A | 764^{b} | F | G413A/R138Q (H) | ? | AS | MCNS | SR | CsA (P) | Y (?) | N | N |

A | 789^{b} | M | IVS4-1G>T (H) | 5.0 | AS | FSGS | SR | CsA (?) | N (0.5) | N | N |

A | 803^{b} | F | C851T/A284V (H) | 2.0 | AS | FSGS | SR | ND | Y (8.0) | Y (8.8) | N (1.1) |

A | 833^{b} | F | del AA 855/56/S302X (H) | 9.1 | AS | MCNS | SR | CsA + CP (N) | Y (1.6) | Y (3.4) | N (7.7) |

A | 836^{b} | F | G587C/R196P (h)-G868A/V290M (h) | 1.3 | AS | FSGS | SR | CsA (N) | N (10.1) | N | N |

A | 861 | F | G868A-V290M(h)-del T 948/L347X (h) | 2.2 | P-AS | FSGS | SR | CsA (P) | N (13.8) | N | N |

A | 873 | M | G770A/G257E(H) | 0.3 | P-AS | MCNS | ND | ND | N (0.5) | N | N |

A | 888 | M | G413A/R138Q (h)-IVS7+2T>A (h) | 3.5 | AS | FSGS | SR | ? | N (1.4) | N | N |

A | 911 | F | G686A/R229Q (h)-A929T/E310V (h) | 4.0 | AS | FSGS | SR | CsA (N), CP (N) | Y (7.9) | Y (8.3) | N (1.5) |

A | 975-1 | M | G413A/R138Q (H) | 4.3 | AS | FSGS | SR | CP (N) | Y (1.5) | Y (4.1) | N (5.7) |

A | 975-2 | M | G413A/R138Q (H) | 1.5 | AS | FSGS | SR | ND | Y (9.7) | N | |

A | 1005 | F | G413A/R138Q (h)-IVS3+2T>A (h) | 3.4 | AS | MCNS | SR | CsA (N) | Y (4.0) | Y (7.8) | N (1.5) |

A | 1006 | M | G413A/R138Q (h)-G503A/R168H (h) | 4.9 | ? | FSGS | SR | ? | Y (6.2) | Y (8.5) | N (3.4) |

A | 1023 | M | G413A/R138Q (h)-ins T 460–467/V165X (h) | 1.5 | AS | FSGS | SR | CsA (N) | Y (6.0) | Y (7.5) | N (4.3) |

A | 1030 | F | G413A/R138Q (H) | 0.7 | AS | FSGS | SR | CP (N) | Y (9.3) | Y (13.1, 19.1) | N (CR6, ?) |

A | 1032 | F | G413A/R138Q (h)-G868A/V290M (h) | 11.0 | P | IgM | ND | ND | N (2.7) | N | N |

A | 1033 | M | G413A/R138Q (H) | 0.5 | AS | ND | ND | ND | N (1.2) | N | N |

A | 1041 | F | ins A 29/E69X (h)-G304A/E102K (h) | 2.2 | AS | MP | SR | CP (N) | N (2.5) | N | N |

A | 1045 | M | ins T 460–467/V165X (H) | 1.0 | AS | FSGS | SR | CsA (N) | Y (9.0) | N | N |

A | 1059-1 | M | C353T/P118L (H) | 2.0 | AS | FSGS | SR | ND | Y (4.4) | N | N |

A | 1069 | M | G686A/R229Q (H) | 7.4 | AS | FSGS | ? | CP (N) | Y (5.8) | N | N |

A | 1077 | M | T803G/V268G (H) | 3.5 | AS | FSGS | SR | CP (N) | N (0.5) | N | N |

A | 1083 | F | C353T/P118L (H) | 3.6 | AS | DMS | SR | CP (N) | Y (1.5) | N | N |

A | 1139 | F | del T 948/L347X (H) | 0.7 | AS | FSGS | SR | CsA (N) | Y (3.2) | Y (3.6) | Y (0.1) |

A | 1173 | M | G686A/R229Q (H) | 5.5 | AS | FSGS | SR | CsA (N), CP (N) | N (3.1) | N | N |

B | 236-2^{b} | M | G413A/R138Q (H) | 0.1 | AS | FSGS | SR | ND | Y (9.4) | Y (10.4) | N (6.7) |

B | 355-1^{b} | M | G413A/R138Q (h)-ins T 460–467/V165X (h) | 0.0 | AS | FSGS | SR | CsA (N) | Y (5.7) | Y (6.2) | N (1.6) |

B | 355-2^{b} | F | G413A/R138Q (h)-ins T 460–467/V165X (h) | 0.0 | AS | FSGS | ND | ND | N (4.0) | N | N |

B | 398-2^{b} | F | G413A/R138Q (H) | 0.0 | AS | FSGS | SR | CsA (N) | Y (4.2) | Y (5.0) | N (3.0) |

B | 515-1^{b} | M | G413A/R138Q (h)-419 del G/V180X (h) | 0.0 | AS | CNS | SR | ND | Y (?) | Y (7.8) | N (9.0) |

B | 515-2^{b} | F | G413A/R138Q (h)-419 del G/V180X (h) | 0.0 | AS | ND | SR | ND | Y (?) | Y (14.5) | N (0.4) |

B | 859^{b} | M | G413A/R138Q (H) | 0.0 | P | MCNS | SR | CsA (P) | N (3.3) | N | N |

B | 935 | M | ins T 460–467/V165X (h)-T506C/L169P (h) | 0.0 | AS | MCNS | SR | ND | N (1) | N | N |

B | 942-1 | M | G413A/R138Q (h)-G503A/R168H (h) | 0.0 | ? | ? | ? | ? | ? | ? | ? |

B | 942-2 | M | G413A/R138Q (h)-G503A/R168H (h) | 0.0 | ? | ? | ? | ? | ? | ? | ? |

B | 1028 | M | C353T P118L (h)-G413A/R138Q (h) | 0.0 | AS | MP | ND | ND | N (6.4) | N | N |

B | 1201 | M | ins T 460–467/V165X (h)-C871T/R291W (h) | 0.0 | P | FSGS | SR | CsA (N) | N (7.3) | N | N |

B | 1221 | M | G378T/K126N (h)-del T 948/L347X (h) | 0.0 | AS | FSGS | ND | ND | Y (6.2) | Y (6.6) | Y (?) |

B | 1233 | F | G413A/R138Q (h)-ins T 460–467/V165X (h) | 0.0 | AS | FSGS | SR | ND | N (2.9) | N | N |

C | 376-1^{b} | M | G413A/R138Q (h) | 4.0 | AS | FSGS | SR | CsA (P) | Y (8.0) | N | N |

C | 376-2^{b} | M | G413A/R138Q (h) | 7.0 | AS | MCNS | SR | CsA (R) | N (2.8) | N | N |

C | 923 | M | A983G/Q328R (h) | ? | ? | ND | ? | ? | ? | ? | ? |

C | 1086 | M | G709C/E237Q (h) | 10.5 | AS | MCNS | SR | CsA (R) | N | N | N |

C | 1104 | F | C725T/A242V (h) | 1.6 | AS | FSGS | SR | CP (R) | N (1.4) | N | N |

D | 3908 | M | G709C/E237Q (h) | 5.7 | AS | MCNS | SS | CsA (?) | N | N | N |

D | 4286 | M | C59T/P20L (h) | ? | AS | MCNS | SS | ND | N | N | N |

D | 3147 | M | G413A/R138Q (h) | 3.2 | AS | ND | SS | ND | N | N | N |

D | 1172 | F | C871T/R291W (h) | 1.5 | AS | FSGS | SS-SR | CsA (N) | N (0.7) | N | N |