Maternal Risk Factors and Perinatal Characteristics for Hirschsprung Disease

Granström, Anna Löf; Svenningsson, Anna; Hagel, Eva; Oddsberg, Jenny; Nordenskjöld, Agneta; Wester, Tomas

doi:10.1542/peds.2015-4608

Cited by 39 publications

(26 citation statements)

References 25 publications

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“…The mean age was 9.57±8.32 months. The male: Female ratio among patients with HSCR was 27:8, which is consistent with the typical sex ratio of this disease (3.5:1~4:1) ( 27 ).…”

Section: Resultssupporting

confidence: 83%

Gli family zinc finger 1 is associated with endothelin receptor type B in Hirschsprung disease

et al. 2018

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Hirschsprung disease (HSCR) is a newborn colorectal disease characterized by an absence of ganglia in the distal gut. Hedgehog (Hh) and endothelin signaling serve important roles in gastrointestinal tract formation. Alterations in the signaling pathways disrupt the development of enteric neural crest cells (ENCCs). It is not known whether there is any coordination between these pathways in the pathogenesis of HSCR. In the present study, tissue samples from 35 patients with HSCR, including stenotic aganglionosis gut and normal ganglionic gut, were obtained. The expression of Gli family zinc finger 1 (Gli1) and endothelin receptor type B (EDNRB) was determined using reverse transcription-quantitative polymerase chain reaction, immunohistochemistry and western blotting. In addition, the SK-N-SH cell line was used to investigate the association between Hh signaling and the expression of EDNRB. The results revealed aberrant expression of Gli1 in the aganglionic segments, as well as decreased expression of Gli1 in tissues from 7 patients with HSCR exhibited, whereas tissues from 9 patients with HSCR exhibited increased Gli1 expression compared with the expression in the normal tissues. There was a negative association between EDNRB expression and Gli1 expression in the same sample. Knockdown of Gli1 by small interfering RNA and inhibition of Hh signaling by Vismodegib in SK-N-SH cells increased EDNRB expression. By contrast, upregulation of Gli1 expression by plasmids and activation of Hh signaling by Purmorphamine decreased EDNRB expression. Furthermore, premature enteric ganglia were observed in 4 patients with HSCR with decreased Gli1 expression. Thus, the results of the present study suggest that altered Gli1 expression negatively regulates EDNRB expression in patients with HSCR. The increased expression of EDNRB induced by decreased Gli1 expression may represent a novel mechanism in HSCR.

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“…The mean age was 9.57±8.32 months. The male: Female ratio among patients with HSCR was 27:8, which is consistent with the typical sex ratio of this disease (3.5:1~4:1) ( 27 ).…”

Section: Resultssupporting

confidence: 83%

Gli family zinc finger 1 is associated with endothelin receptor type B in Hirschsprung disease

et al. 2018

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“…Hirschsprung disease is a developmental defect of the enteric nervous system, characterised by absence of ganglion cells in the myenteric and submucosal plexuses in the distal hindgut. The incidence is 1:5000 live births and Hirschsprung disease is a multifactorial disease caused by both environment and genetic factors . Hirschsprung disease is two to four times more common in males than in females .…”

Section: Introductionmentioning

confidence: 99%

Swedish national population‐based study shows an increased risk of depression among patients with Hirschsprung disease

et al. 2019

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Aim: Hirschsprung disease is usually treated during infancy. The long-term impact on mental health has not been well studied. The aim of this study was to assess the risk for depressive disorders in individuals with Hirschsprung disease.Methods: This was a nationwide, population-based cohort study. The study exposure was Hirschsprung disease and the study outcome was depression. The exposed cohort included all individuals with Hirschsprung disease, registered in the Swedish National Patient Register between 1964 and 2013 and the unexposed cohort included ten age-and sex-matched controls per patient. The diagnosis of depression was confirmed by diagnosis in the Swedish National Patient Register. Results:The cohort included 739 (76.5% males) individuals with Hirschsprung disease and 7390 (76.5% males) controls. Among the patients with Hirschsprung disease, 35 (4.7%) of the patients had had a depressive disorder and 187 (2.5%) of controls, hazard ratio 1.98, 95% confidence interval 1.38-2.84. The mean age at diagnosis of first depression was 21.9 years (SD AE 7) in Hirschsprung disease patients and 23.4 years (SD AE 7), p = 0.236 in the unexposed group. There were no significant gender differences. Conclusion:We found an increased risk of having depressive disorders among individuals with Hirschsprung disease compared to controls.

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“…Hirschsprung disease (HSCR) is a developmental defect of the enteric nervous system caused by incomplete migration, differentiation, and survival of enteric nervous progenitors. The birth prevalence is 1 in 5000 living newborns [ 1 ]. HSCR can be a part of a syndrome, most commonly trisomy 21 (Down syndrome).…”

Section: Introductionmentioning

confidence: 99%

Mortality in Swedish patients with Hirschsprung disease

Granström

Wester

2017

Pediatr Surg Int

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PurposeHirschsprung disease (HSCR) has previously been associated with increased mortality. The aim of this study was to assess mortality in patients with Hirschsprung disease in a population-based cohort.MethodsThis was a nationwide, population-based cohort study. The study exposure was HSCR and the study outcome was death. The cohort included all individuals with HSCR registered in the Swedish National Patient Register between 1964 and 2013 and ten age- and sex-matched controls per patient, randomly selected from the Population Register. Mortality and cause of death were assessed using the Swedish National Causes of Death Register.ResultsThe cohort comprised 739 individuals with HSCR (565 male) and 7390 controls (5650 male). Median age of the cohort was 19 years (range 2–49). Twenty-two (3.0%) individuals with HSCR had died at median age 2.5 years (range 0–35) compared to 49 (0.7%) controls at median age 20 years (0–44), p < 0.001. Hazard ratio for death in HSCR patients compared to healthy controls was 4.77 (confidence interval (CI) 95% 2.87–7.91), and when adjusted for Down syndrome, the hazard ratio was 3.6 (CI 95% 2.04–6.37).ConclusionsThe mortality rate in the HSCR cohort was 3%, which was higher than in controls also when data were adjusted for Down syndrome.

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Maternal Risk Factors and Perinatal Characteristics for Hirschsprung Disease

Cited by 39 publications

References 25 publications

Gli family zinc finger 1 is associated with endothelin receptor type B in Hirschsprung disease

Gli family zinc finger 1 is associated with endothelin receptor type B in Hirschsprung disease

Swedish national population‐based study shows an increased risk of depression among patients with Hirschsprung disease

Mortality in Swedish patients with Hirschsprung disease

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