Table 3.
Equivocal and discordant findings in study participantsa
| Disease Subtype | Age (yr)b | Molecular Diagnosis | Renal Cyst Number
|
||
|---|---|---|---|---|---|
| Right Kidney | Left Kidney | Both Kidneys | |||
| PKD1 | 19 | Affected | 0 | 1 | 1 |
| 24 | Affected | 0 | 0 | 0 | |
| 30 | Affected | 1 | 3 | 4 | |
| 32 | Affected | 0 | 1 | 1 | |
| 33 | Affected | 2 | 0 | 2 | |
| 35 | Affected | 2 | 1 | 3 | |
| 40 | Affected | 1 | 3 | 4 | |
| 46 | Affected | >4 | 1 | >5 | |
| 24 | Unaffected | 2 | 0 | 2 | |
| 28 | Unaffected | 0 | 1 | 1 | |
| 55 | Unaffected | 4 | 0 | 4 | |
| PKD2 | 16 | Affected | 0 | 0 | 0 |
| 17 | Affected | 0 | 0 | 0 | |
| 17 | Affected | 0 | 0 | 0 | |
| 19 | Affected | 0 | 1 | 1 | |
| 19 | Affected | 0 | 1 | 1 | |
| 20 | Affected | 0 | 0 | 0 | |
| 20 | Affected | 0 | 0 | 0 | |
| 21 | Affected | 0 | 0 | 0 | |
| 23 | Affected | 0 | 0 | 0 | |
| 24 | Affected | 0 | 1 | 1 | |
| 27 | Affected | 0 | 0 | 0 | |
| 30 | Affected | 2 | 1 | 3 | |
| 30 | Affected | 1 | 3 | 4 | |
| 31 | Affected | 0 | 0 | 0 | |
| 31 | Affected | 0 | 4 | 4 | |
| 31 | Affected | 1 | 3 | 4 | |
| 32 | Affected | 1 | 3 | 4 | |
| 32 | Affected | 4 | 0 | 4 | |
| 33 | Affected | >5 | 1 | >6 | |
| 35 | Affected | 1 | 3 | 4 | |
| 36 | Affected | 1 | 0 | 1 | |
| 36 | Affected | 1 | 3 | 4 | |
| 36 | Affected | 1 | >5 | >6 | |
| 37 | Affected | 0 | 1 | 1 | |
| 42 | Affected | 1 | >5 | >6 | |
| 47 | Affected | >5 | 1 | >6 | |
| 53 | Affected | 1 | 1 | 2 | |
| 55 | Affected | >5 | 1 | >6 | |
| 59 | Affected | 2 | 0 | 2 | |
| 21 | Unaffected | 0 | 1 | 1 | |
| 24 | Unaffected | 0 | 1 | 1 | |
| 49 | Unaffected | 3 | 1 | 4 | |
Using the following PKD1 diagnostic criteria: Two or more renal cysts (unilateral or bilateral) and two or more cysts in each kidney for diagnosis of at-risk individuals aged 15 to 29 yr and 30 to 59 yr, respectively. Four or more cysts in each kidney for diagnosis of at-risk individuals aged ≥60 yr. Fewer than two cysts in each kidney for disease exclusion in at-risk individuals aged ≥30 yr.
Age at ultrasound scan.