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Table 1 Clinical details of affected cases and others with unusual phenotypes

From: Molecular analysis of a consanguineous Iranian polycystic kidney disease family identifies a PKD2mutation that aids diagnostics

Patient No. Sex Age (y)+ Renal Function (Serum Creatinine; mg/dl) Kidney Length^ (mm) Notable Kidney Features from Imaging* Other Findings Genetic results
Right Left Right Left
Affected          
III:4 F 56 N/A N/A N/A N/A N/A Dead; PKD N/D
III:8 M 63 N/A N/A N/A N/A N/A Dead; PKD N/D
IV:9 F 67 1.4 113 125 LC 10x6 mm Normal   1142delG
IV:10 F 75 1.8 108 135 Multiple cysts 9 mm stone   1142delG
IV:13 M 77 Dialysis (75 y) 105 100 LC 22x10 mm 11 mm stone in middle caulis Dead; PKD N/D
IV:17 M 63 1.8 118 110 LC 15x8 mm 9 mm stone   1142delG
IV:20 F 53 Tx (50 y) 150 160 Multiple cysts Multiple cysts Dead; PKD N/D
IV:23 M 50 0.9 115 105 4 mm stone LC 15x8 mm   N/D
V:1 M 54 Dialysis (54 y) N/A N/A N/A N/A Dead; PKD N/D
V:5 M 42 1.1 125 110 LC 15x8 mm 3 mm stone   1142delG
2 mm stone in middle caulis
V:9 F 38 1.3 100 95 LC 23x18 mm 9 mm stone in middle caulis   1142delG
3.5 mm stone in middle caulis
V:14 M 32 0.9 105 105 Multiple cysts Stone 3 mm   1142delG
V:16 (proband) M 30 1.2 105 100 1 cyst, 12x12 mm 1 cyst, 27x22 mm   1142delG
V:22 M 46 1.2 118 110 3 mm stone 1 cyst, 13x13 mm   1142delG
V:24 M 35 0.9 105 107 Normal 2 mm stone   1142delG
V:27 F 49 1.3 108 115 Normal 3.5 mm stone   1142delG
LC 3x3 mm
V:29 F 54 2.5 105 110 1 cyst 10x10 mm 1 cyst, 8x8 mm 1 liver cyst 1142delG
3 mm stone
V:39 F 38 1.8 160 170 Multiple cysts Multiple cysts   1142delG
4.5 mm stone in interlobular region
V:43 F 37 0.7 112 124 Normal 1 cyst, 13x13 mm 22x23 mm liver cyst 1142delG
VI:5 F 20 0.7 95 90 1.5 mm stone Normal   1142delG
VI:6 F 16 0.7 108 109 Normal 3 mm stone   1142delG
VI:30 F 16 0.8 108 98 Normal Normal   1142delG
PKD suspected but not proven          
IV:15 M 62 0.8 105 100 LC 20x10 mm 9 mm stone in middle caulis   N/D
3.5 mm stone in middle caulis
IV:19 F 51 1.5 108 105 1 cyst, 12x8 mm;10 mm stone 11 mm stone in middle caulis   N/D
V:10 F 41 1.2 108 105 1 cyst, 10x5 mm Normal   N/D
V:19 M 40 1.1 112 108 1 cyst, 6x6 mm Normal   N/D
V:25 M 32 0.8 100 105 1 cyst, 6x6 mm Normal   N/D
V:26 M 26 0.8 105 100 2 mm stone 1 mm stone   N/D
VI:2 F 14 0.8 95 107 Normal 1 cyst, 5x4 mm; 1.5 mm stone   N/D
VI:14 M 24 1.3 107 105 2 mm stone 1 cyst, 7x6 mm   N/D
VI:16 M 24 1.7 110 112 Normal 1 cyst, 8X10 mm   N/D
VI:17 F 17 0.8 95 95 1 stone Normal   N/D
VI:22 M 45 1.4 107 105 1 cyst, 8x5mm 2.6 mm stone   N/D
VI:24 M 33 1.1 112 100 1 cyst, 6 mm Normal   N/D
Unaffected          
V:3 F 53 0.9 105 --- Normal Congenitally absent   1142G
V:17 M 39 0.9 110 100 Normal Normal   N/D
V:32 F 64 3.59 100 95 43 mm stone, hydronephrosis 6.7 mm stone   1142G
VI:9 F 20 0.7 100 96 Normal Normal Non Syndromic Mental Retardation, N/D
Normal Karyotype
VI:10 M 16 0.7 108 109 Normal Normal Non Syndromic Mental Retardation N/D
Normal Karyotype
VI:19 F 34 0.8 95 105 Normal Normal   1142G
VI:20 M 46 0.7 100 105 Normal Normal   1142G
VI:28 M ? N/A N/A N/A N/A N/A Congenital heart disease, Down syndrome; Dead N/D
VII:3 M 17 Tx (14y) 85 --- No cysts Congenitally absent Reflux Nephropathy 1142G
  1. *LC, largest cyst; ^N/E, not enlarged; N/D, not determined; N/A, not available; + = age last imaging data available.