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Table 1 Clinical presentation, renal pathology and UMOD mutations of ADTKD-UMOD patients

From: Significance of kidney biopsy in autosomal dominant tubulointerstitial kidney disease-UMOD: is kidney biopsy truly nonspecific?

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  
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]
  1. M male, F female, FH numbers of families with CKD histories, TIN: tubulointerstitial nephritis, NS: nephrosclerosis, HT hypertension, RRT renal replacement therapy