Table 2 Overall features of Cases and Controls who were compared to identify risk factors or early biomarkers of disease. FC was significantly higher in Cases compared to Controls active as a relatively reliable biological marker though with a number of false negative results. Amongst clinical data, only limitation of daily activity proved to be significantly more frequent in Cases, but the significance falls if correction for multiple testing is applied

Gender – n (%)

Males

Females

9 (64)

5 (36)

17 (71)

7 (29)

p = 0.7281

Type of Pull-through – n (%)*

Retrorectal with pouch

Endorectal or Perirectal

3 (21)

11 (79)

9 (37.5)

15 (62.5)

p = 0.4722

Redo – n (%)

3 (21)

7 (29)

Age at enrolment [years] – median (range)

13.1 (1.5–24.2)

11.5 (1.7–35)

p = 0.9044

Timespan from surgery [years] – median (range)

11.5 (0.7–21.7)

9.5 (0.9–26.5)

p = 0.8684

Syndromes or associated anomalies – n (%)

2 (14)

6 (25)

p = 0.6836

Positive familial history for Hirschsprung – n (%)*

3 (21)

5 (22)

p = 1.000

RET mutations – n (%)*

3 (30)

11 (48)

p = 0.1750

Positive HAEC status – n (%)*

8 (57)

8 (36)

p = 0.1870

Median (range) of FC [µg/g]

485 (16-1710)

50 (9-1312)

p = 0.0012

Positive OFB (%)

8 (57%)

3 (12%)

p = 0.0076

Questionnaire results – n (%)

Abdominal pain

7 (50)

16 (67)

p = 0.4924

Distended abdomen

4 (29)

9 (37.5)

p = 0.7281

Rectal bleeding

7 (50)

5 (21)

p = 0.0812

Stools > 5

9 (64)

16 (67)

p = 1.0000

Liquid stools

8 (57)

10 (42)

p = 0.5030

Night-time stools

11 (79)

16 (67)

p = 0.4882

Limitation of daily activities

8 (57)

9 (38)

p = 0.3176

Dietary limitations

10 (71)

12 (50)

p = 0.3087

Iron supplementation

5 (36)

5 (24)

p = 0.4485

Blood transfusion

3 (21)

0 (0)

p = 0.0431

Antibiotic administration

3 (21)

3 (13)

p = 0.6497

Anti-inflammatory drugs

1 (7)

1 (4)

p = 1.0000