Table 1 Clinical presentation, renal pathology and UMOD mutations of ADTKD-UMOD patients
No | sex | FH | UMOD variant | Year at biopsy | Age at biopsy | Renal pathology | eGFR (ml/min) | sUA (mg/dl) | U-prot | U-ob | Gout | HT | Cysts | Age at RRT | Â |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | M | 8 | A247P | 2007 | 22 | TIN, NS | 55.3 | 9 | – | – | – | + | – | – | Family A Ref [13] |
2 | F | 8 | A247P | 1981 | 36 | TIN | 26.9 | 8.4 | – | – | – | + | – | 73 | Family A Ref[13] |
3 | M | 0 | A247P | 2005 | 31 | NS | 53.9 | 7.8 | – | – | + | – | – | – | Ref [13] |
4 | F | 3 | P173R | 2011 | 56 | TIN, NS | 39.9 | 7.5 | ± | – | – | + | – | – | ref [9] |
5 | F | 4 | C135G | 2012 | 31 | TIN, NS | 59.7 | 6.9 | – | – | – | – | – | – | ref [11] |
6 | M | 4 | C306S | 2013 | 17 | TIN, NS | 10.1 | 10.2 | ± | – | – | + | + | 20 | Family B |
7 | F | 4 | C306S | 1994 | 28 | TIN | ND | ND | ND | ND | ND | ND | + | 47 | Family B |
8 | F | 4 | C120S.W373C | 2016 | 28 | TIN | 33.9 | 10.8 | – | – | – | – | – | – |  |
9 | F | 0 | L352Q | 2018 | 41 | TIN, NS | 15.2 | T | – | – | + | – | + | – |  |
10 | M | 3 | C282Y | 2017 | 44 | TIN | 18.7 | T | ± | – | + | + | ND | – |  |
11 | F | 4 | C317G | 1996 | 42 | TIN, NS | 30.2 | 8.5 | – | – | – | – | – | 60 |  |
12 | M | 4 | C94F | 2013 | 14 | TIN, NS | 58.9 | 9.4 | ± | – | – | – | – | – | Family C ref. [10] |
13 | M | 4 | C94F | 1993 | 26 | TIN, NS | ND | ND | ND | ND | + | ND | – | 35 | Family C ref. [10] |