Hypertrophic pyloric stenosis following repair of oesophageal atresia and tracheo-oesophageal fistula in a neonate

İlhan, Özkan; Bor, Meltem; Günendi, Tansel; Dörterler, Mustafa Erman

doi:10.1136/bcr-2018-226292

Cited by 2 publications

(1 citation statement)

References 23 publications

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“…Last, IHPS could also be the result of the atresia itself, potentially as a result of the surgical procedure or the postoperative treatment. Previous studies have suggested vagal nerve lesions, a gastrostomy and transpyloric feeding tubes as possible causes for an increased incidence of IHPS after correction of EA (Ilhan, Bor, Gunendi, & Dorterler, 2018). IHPS has been suggested to be a neuromuscular disorder with the involvement of smooth muscle cells, interstitial cells of Cajal and the enteric nervous system.…”

Section: Ihps Might Be An Acquired Condition Related To Surgery or mentioning

confidence: 99%

Infantile hypertrophic pyloric stenosis in patients with esophageal atresia

Kate

Brouwer

Bever

et al. 2020

Birth Defects Research

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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.

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Section: Ihps Might Be An Acquired Condition Related To Surgery or mentioning

confidence: 99%

Infantile hypertrophic pyloric stenosis in patients with esophageal atresia

Kate

Brouwer

Bever

et al. 2020

Birth Defects Research

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Models for infantile hypertrophic pyloric stenosis development in patients with esophageal atresia

Kate

Brouwer

Bever

et al. 2019

Preprint

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Tel +31 10 70 37643 22 Fax: +31 10 70 44736 23 e.brosens@erasmusmc.nl 24 ORCID ID: https://orcid.org/0000-0001-8235-4010 25 26 Running title: EA and IHPS: proposal for multifactorial hypothesis 27 Summary statement: 30 Instead of one affected gene, the higher incidence of IHPS in EA patients is more likely the result of 31 multiple (epi)genetic and environmental factors together shifting the balance to disease 32 development. 33 2 ABSTRACT 34 Patients born with esophageal atresia (EA) have a 30 times higher prevalence of infantile 35 hypertrophic pyloric stenosis (IHPS). This makes sense from a developmental perspective as both the 36 esophagus and the pyloric sphincter are foregut derived structures. EA and IHPS are variable features 37in several (monogenetic) syndromes. This, and twin and familial studies, indicates a genetic 38 component for both conditions as single entities. We hypothesized that genetic defects, disturbing 39 foregut morphogenesis, are responsible for this combination of malformations. Non-genetic factors 40 could also contribute, as mice exposed to Adriamycin develop EA and in utero diethylstilbestrol 41 exposure is associated with EA. 42We investigated the copy number profiles and protein coding variants of 15 patients with both EA 43 and IHPS. As all parents were unaffected, we first considered dominant (de novo) or recessive 44 inheritance models but could not identify putatively deleterious mutations or recessive variants. We 45 did identify inherited variants in genes either known to be involved in EA or IHPS or important in 46 foregut morphogenesis in all patients. Unfortunately, variant burden analysis did not show a 47 54

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Hypertrophic pyloric stenosis following repair of oesophageal atresia and tracheo-oesophageal fistula in a neonate

Cited by 2 publications

References 23 publications

Infantile hypertrophic pyloric stenosis in patients with esophageal atresia

Infantile hypertrophic pyloric stenosis in patients with esophageal atresia

Models for infantile hypertrophic pyloric stenosis development in patients with esophageal atresia

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