Table 1.

Clinical characteristics of study subjects

Clinical CharacteristicsAt-Risk Subjects from Families withControl
Truncating PKD1 MutationsNontruncating PKD1 MutationsPKD2 Mutations
Age (yr), n (%)
 16–2935 (64)14 (56)14 (48)32 (71)
 30–4020 (36)12 (44)15 (52)13 (29)
Sex, n (%)
 Men24 (44)14 (54)9 (31)23 (51)
 Women31 (56)12 (46)20 (69)22 (49)
Disease statusa, n (%)
 Affected33 (60)22 (85)18 (62)
 Unaffected22 (40)4 (15)11 (38)45
Serum Crb (mg/dl)
 Affected0.88 (0.81 to 0.96)0.90 (0.80 to 1.00)0.74 (0.65 to 0.83)
TKVc (ml)
 Affected806 (524–1069)499 (323–842)424 (286–659)
 Unaffected304 (275–344)279 (239–372)310 (281–339)307 (272–357)
  • a Defined by molecular genetic testing.

  • b Serum creatinine (Cr) expressed as mean (95% confidence interval).

  • c TKV measured by MRI expressed as median and interquartile range.