Table 1.

Renal morphology and function in patients with and without anomalies in the TCF2 genea

AllTCF2 Molecular AbnormalityP
YesNo
N802555
Age at diagnosis (yr)0.2 (0 to 14)0.1 (0 to 12)NS
Gender (m/f)53/2717/836/19NS
Renal morphology
    multicystic dysplasia32 8/25 (32%)24/55 (44%)NS
    cysts5721/25 (84%)36/55 (65%)NS
        cortical cysts5121/25 (84%)30/55 (55%)NS
        bilateral cortical cysts2216/25 (64%) 6/55 (11%)<0.0001
        microcysts (<10 mm)4021/25 (84%)19/55 (35%)<0.01  
    hyperechogenicity/poor corticomedullary differentiation6422/25 (88%)42/55 (76%)NS
        bilateral hyperechogenicity3920/25 (80%)19/55 (35%)<0.005 
    hypoplasia6015/25 (60%)45/55 (82%)NS
        bilateral hypoplasia2510/25 (40%)15/55 (27%)NS
    dilation23 8/25 (32%)15/55 (27%)NS
    bilateral abnormalities5425/25 (100%)25/55 (45%)<0.0001
Renal function
    Follow-up (yr)4.1 (0.3 to 18)2.4 (0.4 to 18)4.8 (0.3 to 17.9)NS
    GFR >80 ml/min per 1.73 m247/8014/25 (56%)33/55 (60%)NS
    GFR = 40 to 80 ml/min per 1.73 m222/8010/25 (40%)12/55 (22%)NS
    GFR <40 ml/min per 1.73 m211/80 1/25 (4%)10/55 (18%)NS
  • a Patient age is given in years (median and range); dilation was defined as anteroposterior diameter of the renal pelvis >10 mm or any other cavity >5 mm. GFR is estimated using the Schwarz formula.