Table 2.

Clinical presentation at diagnosis of APRT deficiency

ParameterValue
No. of families33
No. of patients40
    <16 years (n [%])15 (37.5)
    >16 years (n [%])25 (62.5)
Male gender (n [%])24 (60.0)
Parental consanguinity (n = 34; n [%])5 (14.7)
Age at diagnosis (years; median [IQR])28.9 (5.6 to 51.0)
Familial screening (asymptomatic; n [%])2 (5.0)
History of urolithiasis (n [%])36 (90.0)
Age at first lithiasis (n = 31; years; median [IQR])12.5 (3.1 to 35.0)
Delay from first lithiasis to diagnosis (years; median [IQR])1.5 (0.0 to 17.2)
Lithiasis episodes (n [%])
    04 (10.0)
    1 to 217 (42.5)
    3 to 510 (25.0)
    >59 (22.5)
Urologic procedures (n [%])
    023 (57.5)
    1 to 212 (30.0)
    3 to 54 (10.0)
    >51 (2.5)
Type of urologic procedures (n [%])
    extracorporeal shock waves lithotripsy12 (30.0)
    ureteroscopy5 (12.5)
    percutaneous nephrolithotomy3 (7.5)
    surgery5 (12.5)
    nephrectomy1 (2.5)
Acute renal failure (n [%])1 (2.5)
Chronic renal failure (n [%])13 (32.5)
ESRD reached before diagnosis (n [%])6 (15.0)
Renal transplant recipients not on dialysis (n [%])4 (10.0)
Renal transplant recipients on dialysis (n [%])2 (5.0)
  • Full clinical data for 40 patients from 33 families are provided. (n indicates the number of patients for whom data was available when the information was lacking for some patients).