Jejunoileal atresia and cystic fibrosis: don’t miss it
<p>Abstract</p> <p>Background</p> <p>While an increased prevalence of cystic fibrosis (CF) in patients with jejunal atresia and ileal atresia (JIA) has been described previously, it still may not be a practice routine to indicate a sweat test or DNA test for CFTR mutati...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2012-12-01
|
| Series: | BMC Research Notes |
| Subjects: | |
| Online Access: | http://www.biomedcentral.com/1756-0500/5/677 |
| _version_ | 1818119498985635840 |
|---|---|
| author | Siersma Carolien L Rottier Bart L Hulscher Jan BF Bouman Katelijne van Stuijvenberg Margriet |
| author_facet | Siersma Carolien L Rottier Bart L Hulscher Jan BF Bouman Katelijne van Stuijvenberg Margriet |
| author_sort | Siersma Carolien L |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>While an increased prevalence of cystic fibrosis (CF) in patients with jejunal atresia and ileal atresia (JIA) has been described previously, it still may not be a practice routine to indicate a sweat test or DNA test for CFTR mutations in newborns presenting with JIA. Leading textbooks do not mention JIA as a possible presenting clinical feature of CF. We describe two cases of JIA with a delayed diagnosis of CF (4 months [post mortem] and 19 months). This led to a retrospective review of all patients with JIA in our hospital. We hypothesised that also in the past although indicated further testing for CF had not always been performed.</p> <p>Methods</p> <p>Over an 18-year period from January 1991 until December 2008, all cases of JIA in our centre were reviewed (n=50). We compared patients who have been tested for CF (n=18) with patients who have not been tested for CF (n=32), with respect to their patient characteristics, either by logistic regression analysis or a nonparametric test (p<0.05).</p> <p>Results</p> <p>Of all 50 patients the proportion of infants actually tested for CF was 18 (36%). A statistical significant difference between the group of patients who were tested for CF versus the group of those who were not tested was found in a higher occurrence of postoperative bilious retention after 7 days (56% versus 25%, respectively), and postoperative complications (78% versus 34%, respectively). CF was confirmed in 4 (8%).</p> <p>Conclusion</p> <p>Testing for CF in newborns presenting with JIA does not appear to be common practice. A timely diagnosis of CF leads to presymptomatic treatment and has beneficial effects on morbidity and mortality. CF should be tested for in all children with JIA. We recommend a sweat test for term children and CFTR DNA testing as a first step for preterm infants. Medical professional awareness may be increased if future editions of leading text books in the relevant fields should include JIA as an indication to follow an appropriate CF-diagnostic algorithm.</p> <p>Trial registration</p> <p>Statement on reporting of a clinical trial: This article is not based on a clinical trial.</p> |
| first_indexed | 2024-12-11T05:11:10Z |
| format | Article |
| id | doaj.art-a0b06d30707d41ca9470c03b6f9f43ed |
| institution | Directory Open Access Journal |
| issn | 1756-0500 |
| language | English |
| last_indexed | 2024-12-11T05:11:10Z |
| publishDate | 2012-12-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Research Notes |
| spelling | doaj.art-a0b06d30707d41ca9470c03b6f9f43ed2022-12-22T01:19:56ZengBMCBMC Research Notes1756-05002012-12-015167710.1186/1756-0500-5-677Jejunoileal atresia and cystic fibrosis: don’t miss itSiersma Carolien LRottier Bart LHulscher Jan BFBouman Katelijnevan Stuijvenberg Margriet<p>Abstract</p> <p>Background</p> <p>While an increased prevalence of cystic fibrosis (CF) in patients with jejunal atresia and ileal atresia (JIA) has been described previously, it still may not be a practice routine to indicate a sweat test or DNA test for CFTR mutations in newborns presenting with JIA. Leading textbooks do not mention JIA as a possible presenting clinical feature of CF. We describe two cases of JIA with a delayed diagnosis of CF (4 months [post mortem] and 19 months). This led to a retrospective review of all patients with JIA in our hospital. We hypothesised that also in the past although indicated further testing for CF had not always been performed.</p> <p>Methods</p> <p>Over an 18-year period from January 1991 until December 2008, all cases of JIA in our centre were reviewed (n=50). We compared patients who have been tested for CF (n=18) with patients who have not been tested for CF (n=32), with respect to their patient characteristics, either by logistic regression analysis or a nonparametric test (p<0.05).</p> <p>Results</p> <p>Of all 50 patients the proportion of infants actually tested for CF was 18 (36%). A statistical significant difference between the group of patients who were tested for CF versus the group of those who were not tested was found in a higher occurrence of postoperative bilious retention after 7 days (56% versus 25%, respectively), and postoperative complications (78% versus 34%, respectively). CF was confirmed in 4 (8%).</p> <p>Conclusion</p> <p>Testing for CF in newborns presenting with JIA does not appear to be common practice. A timely diagnosis of CF leads to presymptomatic treatment and has beneficial effects on morbidity and mortality. CF should be tested for in all children with JIA. We recommend a sweat test for term children and CFTR DNA testing as a first step for preterm infants. Medical professional awareness may be increased if future editions of leading text books in the relevant fields should include JIA as an indication to follow an appropriate CF-diagnostic algorithm.</p> <p>Trial registration</p> <p>Statement on reporting of a clinical trial: This article is not based on a clinical trial.</p>http://www.biomedcentral.com/1756-0500/5/677Jejunal atresiaIleal atresiaSmall bowel atresiaCystic fibrosis |
| spellingShingle | Siersma Carolien L Rottier Bart L Hulscher Jan BF Bouman Katelijne van Stuijvenberg Margriet Jejunoileal atresia and cystic fibrosis: don’t miss it BMC Research Notes Jejunal atresia Ileal atresia Small bowel atresia Cystic fibrosis |
| title | Jejunoileal atresia and cystic fibrosis: don’t miss it |
| title_full | Jejunoileal atresia and cystic fibrosis: don’t miss it |
| title_fullStr | Jejunoileal atresia and cystic fibrosis: don’t miss it |
| title_full_unstemmed | Jejunoileal atresia and cystic fibrosis: don’t miss it |
| title_short | Jejunoileal atresia and cystic fibrosis: don’t miss it |
| title_sort | jejunoileal atresia and cystic fibrosis don t miss it |
| topic | Jejunal atresia Ileal atresia Small bowel atresia Cystic fibrosis |
| url | http://www.biomedcentral.com/1756-0500/5/677 |
| work_keys_str_mv | AT siersmacarolienl jejunoilealatresiaandcysticfibrosisdontmissit AT rottierbartl jejunoilealatresiaandcysticfibrosisdontmissit AT hulscherjanbf jejunoilealatresiaandcysticfibrosisdontmissit AT boumankatelijne jejunoilealatresiaandcysticfibrosisdontmissit AT vanstuijvenbergmargriet jejunoilealatresiaandcysticfibrosisdontmissit |