Table 2 Characteristics of the study cohort.

From: Atypical Polycystic Kidney Disease as defined by Imaging

Patient characteristics

Typical patterns

Atypical patterns

(n = 477)

(n = 46)

Age (years)a

43 (33–53)

55 (45–68)

Male sex

209 (43.8)

29 (63.0)

Positive family history of ADPKD

356 (74.6)

12 (26.1)

Mutation class

PKD1 PT

180 (37.7)

1 (2.2)

PKD1 in-frame indel

18 (3.8)

0 (0)

PKD1 NTb

106 (22.2)

3 (6.5)

PKD2

129 (27.0)

5 (10.9)

NMD

44 (9.2)

37 (80.4)

Serum creatinine (mg/dL)c

1.0 (0.8–1.4)

0.9 (0.8–1.2)

eGFR (mL/min/1.73 m2)c

79.0 (49.0–101.0)

82.0 (68.8–98.5)

TKV (mL)

1192 (626–2140)

1093 (776–1570)

Ht-TKV (mL/m)

712 (370–1239)

634 (457–874)

Mayo clinic imaging class

N/A

1A

51 (10.7)

 

1B

133 (27.9)

 

1C

144 (30.2)

 

1D

84 (17.6)

 

1E

65 (13.6)

 
  1. Data expressed as number (%) or median (interquartile range).
  2. eGFR, estimated glomerular filtration rate; Ht-TKV, height-adjusted total kidney volume; NMD, no mutation detected; NT, non-truncating; PT, protein-truncating; TKV, total kidney volume.
  3. aAt MRI/CT scan.
  4. bOne patient who had both a PKD1 NT and a PKD2 mutation is included here.
  5. cAt last follow-up.
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