Table 1.

Clinical findings of study participants

FamilyIndividual IdentificationAge (yr)aUltrasound FindingsRenal Disease Severity, eGFR (ml/min per 1.73 m2) or age at ESRD
TOR 12I:170Unaffected
I:267Three right renal cysts, one left renal cyst, and four liver cysts; right kidney 13.4 cm and left kidney 11.7 cm in length47
II:151Unaffected82
II:247Single renal cyst87
II:348Affectedb; right kidney 12.1 cm and left kidney 14 cm in length; multiple renal cysts bilaterally50
II:546Unaffected86
III:225AffectedbN/A
III:323Affectedb97
TOR130I:155Unaffected
I:252Unaffected
II:128Affectedc105
II:221One renal cyst102
TOR163I:1Unaffected
I:2AffectedbESRD at 70 yr
II:1Single kidney, affectedbESRD at 48 yr
II:257Single kidney, affectedbESRD at 50 yr
II:357Unaffected
III:133Unaffected105
III:230Unaffected
III:328Unaffected90
III:420Affectedb88
III:518Affectedb93
TOR165II:152Affectedb; both kidneys >20 cm in lengthESRD at 48 yr
III:123Normal
TOR166II:348Normal right kidney; multiple left renal cysts, left enlarged with multiple cysts89
II:456Normal
III:130Affectedb108
  • a Age at renal ultrasound and laboratory testing.

  • b Renal enlargement with four or more cysts in each kidney.

  • c Two or more cysts in each kidney.