Increased Incidence of Hypertrophic Pyloric Stenosis in Esophageal Atresia Patients

Beelen, N W G van; Mous, Daphne S.; Brosens, Erwin; Klein, Annelies de; Ven, Cornelis P. van de; Vlot, John; IJsselstijn, Hanneke; Wijnen, René

doi:10.1055/s-0033-1352527

Cited by 6 publications

(6 citation statements)

References 27 publications

(56 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This condition requires surgery where the upper layer of the circular smooth muscle of the pylorus will be incised, to release the passage from the stomach to the intestine again. Previously, we have described a 30 times higher prevalence (7.5%) of IHPS in patients with EA compared to the normal population (0.25%) (van Beelen et al, 2014). This increased prevalence has been reported in other retrospective studies (3.3-13%) as well (Deurloo, Ekkelkamp, Schoorl, Heij, & Aronson, 2002;Palacios, Sanz, Tàrranga, San Roman, & Carbó, 2014).…”

Section: Introductionsupporting

confidence: 70%

See 1 more Smart Citation

Infantile hypertrophic pyloric stenosis in patients with esophageal atresia

Kate

Brouwer

Bever

et al. 2020

Birth Defects Research

Self Cite

View full text Add to dashboard Cite

Background: Patients born with esophageal atresia (EA) have a higher incidence of infantile hypertrophic pyloric stenosis (IHPS), suggestive of a relationship. A shared etiology makes sense from a developmental perspective as both affected structures are foregut derived. A genetic component has been described for both conditions as single entities and EA and IHPS are variable components in several monogenetic syndromes. We hypothesized that defects disturbing foregut morphogenesis are responsible for this combination of malformations. Methods: We investigated the genetic variation of 15 patients with both EA and IHPS with unaffected parents using exome sequencing and SNP arraybased genotyping, and compared the results to mouse transcriptome data of the developing foregut. Results: We did not identify putatively deleterious de novo mutations or recessive variants. However, we detected rare inherited variants in EA or IHPS disease genes or in genes important in foregut morphogenesis, expressed at the proper developmental time-points. Two pathways were significantly enriched (p < 1 × 10 −5): proliferation and differentiation of smooth muscle cells and self-renewal of satellite cells. Conclusions: None of our findings could fully explain the combination of abnormalities on its own, which makes complex inheritance the most plausible genetic explanation, most likely in combination with mechanical and/or environmental factors. As we did not find one defining monogenetic cause for the EA/IHPS phenotype, the impact of the corrective surgery could should be further investigated.

show abstract

Section: Introductionsupporting

confidence: 70%

“…A full phenotypical description of the 27 EA/IHPS patients is given in Table 1. Twenty patients have been described previously (van Beelen et al, 2014).…”

Section: Patient Cohortmentioning

confidence: 99%

Infantile hypertrophic pyloric stenosis in patients with esophageal atresia

Kate

Brouwer

Bever

et al. 2020

Birth Defects Research

Self Cite

View full text Add to dashboard Cite

show abstract

“…[129] The diagnosis was generally delayed, by a median of 6 days (range, 1–21 days). [130] Hypertrophic pyloric stenosis was diagnosed during ultrasound, contrast study, or surgical procedures. [130]…”

Section: Associated Gastrointestinal Conditions In Children With Eamentioning

confidence: 99%

“…[130] Hypertrophic pyloric stenosis was diagnosed during ultrasound, contrast study, or surgical procedures. [130]…”

Section: Associated Gastrointestinal Conditions In Children With Eamentioning

confidence: 99%

How to Care for Patients with EA-TEF: The Known and the Unknown

Mousa

Krishnan

Hassan

et al. 2017

Curr Gastroenterol Rep

View full text Add to dashboard Cite

EA patients are at high risk for gastroesophageal reflux and esophageal strictures, and the sequela that result. Extraintestinal manifestations of gastroesophageal reflux disease (GERD) can appear similar to other pathologic diagnoses commonly found in EA patients, such as congenital stricture, eosinophilic esophagitis, esophageal dysmotility, tracheomalacia, recurrent fistula, aspiration, etc. Therefore, it is important to have a standardized way to monitor for these issues. pH impedance allows for detection of nonacid reflux and the height of reflux, which are important in correlating symptoms with reflux episodes. A multidisciplinary approach is beneficial in evaluating and monitoring EA patients in the long term.

show abstract

“…The atresia and TEF are surgically treated in the first days after birth. EA/TEF etiology is likely multifactorial with a strong genetic component [5,6] and can be either an isolated congenital anatomical malformation or one of the component features of a (suspected) syndrome [7,8]. Environmental factors have been suggested to play a role in the etiology of EA/TEF, although no single external factor has consistently been identified [3, [9][10][11][12][13][14][15][16][17][18][19][20][21][22][23].…”

Section: Introductionmentioning

confidence: 99%

Untitled

View full text Add to dashboard Cite

Increased Incidence of Hypertrophic Pyloric Stenosis in Esophageal Atresia Patients

Cited by 6 publications

References 27 publications

Infantile hypertrophic pyloric stenosis in patients with esophageal atresia

Infantile hypertrophic pyloric stenosis in patients with esophageal atresia

How to Care for Patients with EA-TEF: The Known and the Unknown

Untitled

Contact Info

Product

Resources

About