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Table 3 Patient demographics and diagnostic features among all study patients

From: Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study

 

NP-C positive (two NPC1 mutations)

(n = 10)

NP-C uncertain (one NPC1 mutation)

(n = 8)

NP-C negative (n = 218)

Age (years)

Mean ± SD

28 ± 21

28 ± 28

44 ± 22

Median (range)

35 (1.4–62)

21 (0.8–68)

46 (0.03–83)

Gender (n)

Male

4

6

126

Female

6

2

92

NP-C SI (points)

Mean ± SD

129 ± 72.1

78.2 ± 27.1

58.9 ± 39.2

Median (range)

145 (20–200)

69.1 (55–120)

55 (5–245)

ChT activity

(nmol/mL/h)

Mean ± SD

553 ± 479

187 ± 262

122 ± 423

Median (range)

255 (75–1477)

109 (24–771)

53 (11–5149)

CCL18 conc. (ng/mL)

Mean ± SD

481 ± 370

242 ± 179

95 ± 178

Median (range)

266 (88–1137)

198 (39–550)

(11–1513)

7-KC

(ng/mL)

Mean ± SD

351 ± 222

103 ± 91.20

ND

Median (range)

249 (103–761)

198 (<2–761)

Filipin staining (n)

Classical

3

2

ND

Variant

1

6

No data

6

0

  1. All patients, including those from both Periods 1 and 2. Data expressed as mean ± SD, median and range (minimum–maximum). Normal biomarker values calculated in 36 patients without lysosomal disorders were: 46.1 ± 30.2 nmol/mL/h for ChT activity; 52.5 ± 30.3 ng/mL for CCL18/PARC concentration; and 15.99 ± 14.67 ng/mL for 7-KC concentration. ND no data available