TABLE 1.
Clinical data from the probands and key family members of all families
| Family No. | ID | Age (y) | Gender | Diagnosed age/Initial indication | Family history of PKD | Renal cysts | Hepatic cysts | Hypertension (Age) | Renal osteopathy | ESRD (Age) | Other symptoms | Operations |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 1.1 | 55 | M | 40/haematuria | (+) | (+) | (+) | (+) | (+) | (+) (47) | Chronic cardiac insufficiency, coronary arteriosclerosis, cirrhosis | Left nephrectomy (2004); KT (2017) |
| 2 | 2.1 | 49 | F | 25/imaging diagnosis | (−) | (+) | (−) | (+) | (+) | (+) (41) | / | Left nephrectomy (2012) |
| 3 | 3.1 | 55 | M | 23/imaging diagnosis | (−) | (+) | (+) | (+) | (+) | (+) (51) | Coronary heart disease, hyperkalemia | Right nephrectomy and KT (2017) |
| 4 | 4.1 | 55 | M | 24/haematuria | (+) | (+) | (+) | (+) | (+) | (+) (52) | / | Right nephrectomy (2018); KT (2019) |
| 4.2 | 67 a | F | 32/haematuria | (+) | (+) | (+) | (+) | (+) | (+) (55) | / | Died at 67 y old | |
| 5 | 5.1 | 40 | M | 38/pruritus, oliguria | (−) | (+) | (+) | (+) | (+) | (+) (39) | Hypertensive cardiopathy, SHPT | Left nephrectomy and KT (2018) |
| 6 | 6.1 | 55 | F | 30/imaging diagnosis | (+) | (+) | (+) | (+) | (+) | (+) (52) | Right breast cancer (radical mastectomy) | Right nephrectomy and KT (2018) |
| 7 | 7.1 | 53 | F | 51/pruritus, osphyalgia | (+) | (+) | (+) | (+) | (+) | (+) (52) | Pituitary adenoma (postoperation) | Left nephrectomy and KT (2018) |
| 8 | 8.1 | 48 | F | 20/imaging diagnosis | (+) | (+) | (+) | (+) | (+) | (+) (44) | Left clavicle fracture (postoperation) | Right nephrectomy (2017); KT (2018) |
| 9 | 9.1 | 36 | M | 25/imaging diagnosis | (+) | (+) | (+) | (+) | (−) | (−) | / | / |
| 10 | 10.1 | 40 | M | 30/imaging diagnosis | (+) | (+) | (+) | (+) | (−) | (−) | SHPT | / |
| 10.2 | 10 | F | / | (−) | (−) | (−) | (−) | (−) | / | |||
| 11 | 11.1 | 30 | M | 27/imaging diagnosis | (+) | (+) | (+) | (+) | (−) | (−) | / | / |
| 12 | 12.1 | 35 | M | 25/haematuria | (−) | (+) | (+) | (+) | (−) | (−) | / | / |
| 13 | 13.1 | 30 | M | 30/imaging diagnosis | (+) | (+) | (−) | (+) | (−) | (−) | / | / |
| 14 | 14.1 | 30 | M | 27/haematuria | (+) | (+) | (+) | (+) | (−) | (−) | / | / |
| 15 | 15.1 | 31 | M | 28/imaging diagnosis | (+) | (+) | (+) | (+) | (−) | (−) | / | / |
| 15.2 | 59 | M | 35/haematuria | (+) | (+) | (+) | (+) | (+) (44) | Hypertensive cardiopathy | Left nephrectomy (2018); KT (2019) | ||
| 16 | 16.1 | 26 | M | 24/haematuria | (+) | (+) | (+) | (+) | (−) | (−) | / | / |
| 16.2 | 52 | M | 30/haematuria | (+) | (+) | (+) | (+) | (+) | (−) | / | / | |
| 17 | 17.1 | 28 | M | 26/haematuria | (+) | (+) | (+) | (+) | (−) | (−) | Pancreatic cysts | / |
| 18 | 18.1 | 42 | M | 37/imaging diagnosis | (−) | (+) | (−) | (+) | (−) | (−) | / | / |
| 19 | 19.1 | 61 | M | 50/haematuria | (+) | (+) | (+) | (+) | (+) | (+) (55) | SHPT; myocardial infarction | Left nephrectomy (2017) |
| 20 | 20.1 | 50 | F | 30/imaging diagnosis | (−) | (+) | (+) | (+) | (+) | (+) (47) | Cholecystotomy; Appendectomy | Left nephrectomy and KT (2018) |
| 21 | 21.1 | 27 | F | 25/imaging diagnosis | (+) | (+) | (+) | (+) | (−) | (−) | / | / |
| 21.2 | 54 | F | 30/imaging diagnosis | (+) | (+) | (+) | (+) | (+) (49) | Hypertensive cardiopathy, SHPT | Left nephrectomy (2019) | ||
| 21.3 | 28 | M | / | (−) | (−) | (−) | (−) | (−) | / | / | ||
| 21.4 | / | / | In utero/imaging diagnosis | (+) | (−) | / | / | / | / | Selective abortion (22nd GW) | ||
| 21.5 | / | / | / | (−) | (−) | / | / | / | / | / | ||
| 22 | 22.1 | 0 | / | In utero/imaging diagnosis | (+) | (+) | (+) | / | / | / | / | Selective abortion (24th GW) |
| 22.2 | 33 | F | / | (−) | (−) | (−) | (−) | (−) | / | / | ||
| 22.3 | 34 | M | 34/imaging diagnosis | (+) | (−) | (−) | (−) | (−) | / | / | ||
| 22.4 | 60 | M | 39/haematuria | (+) | (+) | (+) | (−) | (−) | / | / | ||
| 22.5 | 61 | F | / | (−) | (−) | (−) | (−) | (−) | / | / | ||
| 23 | 23.1 | 0 | / | In utero/imaging diagnosis | (−) | (+) | (−) | / | / | / | / | Selective abortion (24th GW) |
| 23.2 | 30 | F | / | (−) | (−) | (−) | (−) | (−) | / | / | ||
| 23.3 | 31 | M | / | (−) | (−) | (−) | (−) | (−) | / | / | ||
| 24 | 24.1 | 0 | / | In utero/imaging diagnosis | (−) | (+) | (−) | / | / | / | Bladder dysplasia; oligohydramnios | Selective abortion (23rd GW) |
| 24.2 | 27 | F | / | (−) | (−) | (−) | (−) | (−) | / | / | ||
| 24.3 | 26 | M | / | (−) | (−) | (−) | (−) | (−) | / | / | ||
| 25 | 25.1 | 0 | / | In utero/imaging diagnosis | (−) | (+) | (−) | / | / | / | Polydactylism; occipital bulge; abnormal foot position; oligohydramnios | Selective abortion (24th GW) |
| 25.2 | 30 | F | / | (−) | (−) | (−) | (−) | (−) | / | / | ||
| 25.3 | 32 | M | / | (−) | (−) | (−) | (−) | (−) | / | / | ||
| 26 | 26.1 | 0 | / | In utero/imaging diagnosis | (−) | (+) | (−) | / | / | / | Cerebellar hypoplasia; bilateral choroid plexus cysts | Selective abortion (22nd GW) |
| 26.2 | 29 | F | / | (−) | (−) | (−) | (−) | (−) | / | / | ||
| 26.3 | 30 | M | / | (−) | (−) | (−) | (−) | (−) | / | / |
Abbreviations: ESRD, end‐stage renal disease; F, female; GW, gestational week; KT, kidney transplant; M, male; SHPT, secondary hyperparathyroidism.
a
decease age.