Table 1.
Clinical characteristics of idiopathic CIPO patients included in the RAD21 mutation screening.
| Patient reference code |
Age | Sex | Feeding | Intestinal Manometry | Histopathology |
|---|---|---|---|---|---|
| SWE CIPO004 | 60 | F | Oral | Severe hypomotility | Inflammatory neuropathy; severe depletion of ICC |
| SWE CIPO010 | 44 | F | Oral+PPN | BUPA and absence of feeding activity |
Inflammatory neuropathy |
| SWE CIPO035 | 60 | F | Oral+PPN | Abnormally propagated AFs |
Inclusion neuropathy |
| SWE CIPO042 | 56 | F | TPN | --- | Inflammatory neuropathy |
| SWE CIPO094 | 61 | F | Oral | Abnormally configurated and propagated AFs; BUPA |
Inclusion neuropathy |
| SWE CIPO095 | 49 | F | Oral | BUPA | Inflammatory neuropathy |
| SWE CIPO096 | 56 | F | Oral | BUPA; SPUPA; abnormally configurated and propagated AFs |
Degenerative neuropathy; vacuolar myopathy |
| SWE CIPO097 | 41 | F | EN+PPN | BUPA; absence of feeding activity |
Inflammatory neuropathy |
| SWE CIPO099 | 50 | F | Oral+PPN | BUPA; SPUPA | Degenerative neuropathy |
| SWE CIPO149 | 37 | M | TPN | Bowel dilatation | Inflammatory neuropathy |
| SWE CIPO245 | 41 | F | Oral+PPN | Bowel dilatation | Degenerative myopathy; atrophic desmosis |
| SWE CIPO247 | 20 | F | TPN | Bowel dilatation | Degenerative myopathy |
| ITA CIPO08 | 17 | M | EN | Bowel dilatation | Degenerative myopathy |
| ITA CIPO27 | 39 | F | Modified oral | Abnormally configurated and propagated AFs; BUPA |
Intrinsic neuropathy |
| ITA CIPO15 | 38 | F | Modified oral | Abnormally propagated AFs |
Intrinsic neuropathy |
| ITA CIPO18 | 40 | F | Modified oral | --- | Extrinsic neuropathy |
| ITA CIPO22 | 26 | M | EN/oral | Abnormally configurated and propagated AFs; BUPA |
Intrinsic neuropathy |
| ITA CIPO10 | 56 | M | EN | --- | --- |
| ITA CIPO37 | 21 | F | EN/liquid diet/ integrators |
Abnormally configurated and propagated AFs |
Intrinsic neuropathy |
| ITA CIPO23 | 22 | M | EN/oral | Abnormally configurated and propagated AFs; BUPA |
Intrinsic neuropathy |
| ITA CIPO38 | 44 | F | Oral | Abnormally configurated and propagated AFs |
Severe depletion of ICC |
| ITA CIPO13 | 25 | F | Oral | BUPA; clustered contractions during fasting |
--- |
| ITA CIPO36 | 18 | F | Oral | --- | Degenerative myopathy |
| ITA CIPO29 | 1 | M | Oral | --- | Extrinsic neuropathy |
| ITA CIPO39 | 16 | F | EN/oral | --- | --- |
| ITA CIPO26 | 18 | F | Oral | Abnormally configurated and propagated AFs; numerous BUPA |
Intrinsic neuropathy |
| ITA CIPO25 | 40 | M | EN/oral | Abnormally configurated and propagated AFs; numerous BUPA |
Inflammatory neuropathy |
| ITA CIPO24 | 35 | F | EN/oral | Abnormally configurated and propagated AFs; numerous BUPA |
Degenerative myopathy |
| ITA CIPO16 | 67 | F | EN/oral | --- | --- |
| ITA CIPO14 | 40 | F | EN | Irregularly propagated clustered contractions |
Degenerative myopathy |
| ITA CIPO33 | 20 | M | EN/oral | Abnormally configurated and propagated AFs; |
--- |
| ITA CIPO17 | 54 | F | EN | Lack of AFs; postprandial clustered contractions; BUPA;, propagated clustered contractions |
Intrinsic neuropathy |
| ITA CIPO30 | 46 | F | Modified oral | --- | Extrinsic neuropathy |
Abbreviations: AF, activity front(s); BUPA, bursts of uncoordinated phasic activity; EN, enteral nutrition; ICC, interstitial cells of Cajal; PPN, partial parenteral nutrition; TPN, total parenteral nutrition; SPUPA, sustained periods of uncoordinated phasic activity.