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Table 1 Characteristics of patient cohorts and controls providing urine for UREC preparations

From: Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases

Phenotype

Controls (n = 39)

ARPKD (n = 10)

NPH (n = 4)

BBS (n = 5)

Gene(s)

None

PKHD 1

NPHP (− 1, − 3)

BBS (− 1, − 4, − 7, − 10)

Age (years)

8 (1–22)

10 (3–17)

9 (5–13)

14 (9–17)

Sex (male/female)

20/19

7/3

4/0

5/0

eGFR (ml/min/1.73 m2)

n.d

40 (30–137)

14 (5–21)

69 (46–103)

Renal volume/body surface area (ml/m2)

n.d

225 (89–575)

55 (33–77)

47 (28–90)

  1. Parameters of cohorts with size of groups, n = 4–10 individuals; controls include pooled probes and represent n = 39 individuals. Data sets are given as median (range). Clinical parameters of patients summarize estimated glomerular filtration rate (eGFR) and organ size (RV/BSA) of both kidneys. Statistics are given in legend of Fig. 1. n.d, not determined
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172