Table 1.

Clinical and genetic characteristics of the studied populations

VariablesStudy Populationsa
TotalhtTKVeGFR OnlyP Valueb
Total patients (%)1141 (100)
Total families (%)964 (100)
Excluded study patients (%)22 (2.0)
Excluded study families (%)19 (2.0)
Included study patients (%)1119 (98)663456
Sex (%)0.28
 Men540 (48.3)311 (46.9)229 (50.2)
 Women579 (51.7)352 (53.1)227 (49.8)
Included study families (%)945 (98)581364
Mean age, yr (SD)40.7±10.835.3±8.748.5±8.6<0.0001
Median eGFRc (quartile 1, quartile 3)73.4 (52.1, 95.8)91.6 (76.6, 105.5)48.4 (38.9, 58.6)<0.0001
Median htTKV (quartile 1, quartile 3)567.8 (387.6, 827.4)567.8 (387.6, 827.4)NA
Hypertension (%)1051 (93.9)595 (89.7)456 (100)<0.0001
Mean age of onset of hypertension, yr (SD)d32.8±10.030.1±8.936.3±10.3<0.0001
CKD stage (%)<0.0001
 Stage 1357 (31.9)350 (52.8)7 (1.5)
 Stage 2388 (34.7)295 (44.5)93 (20.4)
 Stage 3353 (31.5)18 (2.7)335 (73.5)
 Stage 421 (1.9)0 (0.0)21 (4.6)
Patients in the genic groups: PKD1, PKD2, and NMD (%)0.12
 Patients with NMD85 (7.6)58 (8.7)27 (5.9)
 Families with NMD79 (8.4)55 (9.5)24 (6.6)
Patients with PKD2 (%)165 (14.7)103 (15.5)62 (13.6)
 Men (%)86 (52.1)50 (48.5)36 (58.1)
 Women (%)79 (47.9)53 (51.5)26 (41.9)
Families with PKD2 (%)135 (14.3)90 (15.5)45 (12.4)
Total patients with PKD1 (%)869 (77.7)502 (75.7)367 (80.5)
 Men (%)415 (47.8)236 (47.0)179 (48.8)
 Women (%)454 (52.2)266 (53.0)188 (51.2)
Total families with PKD1 (%)731 (77.4)436 (75.0)295 (81.0)
Total patients with PKD1, mutation type (%)0.04
 Frameshift, D/I282 (32.5)159 (31.7)123 (33.5)
 Splice96 (11.0)48 (9.6)48 (13.1)
 Nonsense214 (24.6)124 (24.7)90 (24.5)
 Missense223 (25.7)130 (25.9)93 (25.3)
 In-frame, D/I54 (6.2)41 (8.2)13 (3.5)
Patients with PKD1, MSG (%)0.65
 PKD1 truncating, MSG1575 (66.3)329 (65.7)246 (67.2)
 PKD1 nontruncating, MSG2172 (19.8)98 (19.6)74 (20.2)
 PKD1 nontruncating, MSG3120 (13.8)74 (14.8)46 (12.6)
  • NA, not available; D/I, deletion or insertion.

  • a Total population studied for eGFR analysis and htTKV population studied for htTKV.

  • b htTKV versus eGFR-only populations.

  • c eGFR calculated from serum creatinine measurements using the CKD-EPI equation and expressed as milliliters per minute per 1.73 m2.

  • d Only patients who were hypertensive were included.