Hirschsprung's disease prevalence in Europe: A register based study

Best, K; Addor, Marie‐Claude; Arriola, Larraitz; Eszter, Balku; Barišić, Ingeborg; Bianchi, Fabrizio; Calzolari, Elisa; Curran, Rhonda; Doray, Bérénice; Draper, Elizabeth S; Garne, Ester; Gatt, Miriam; Haeusler, Martin; Bergman, Jorieke E. H.; Khoshnood, Babak; Klungsøyr, Kari; Martos, Carmen; Materna‐Kiryluk, Anna; Dias, Carlos Matias; McDonnell, Bob; Mullaney, Carmel; Nelen, Vera; O’Mahony, Mary; Queißer‐Luft, Annette; Randrianaivo, Hanitra; Rißmann, Anke; Rounding, Catherine; Šípek, A; Thompson, Rosie; Tucker, David; Wellesley, Diana; Zymak‐Zakutnia, Natalya; Rankin, Judith

doi:10.1002/bdra.23269

Cited by 68 publications

(45 citation statements)

References 13 publications

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“…This result is similar to what Ryan et al described, namely, that being firstborn decreased the risk for having HSCR. 23 Goldberg showed an association between maternal age and the risk for HSCR in the offspring, which could not be confirmed by Best et al or Russel et al 2,24,25 No correlation could be found between the risk of having a child with HSCR and maternal diseases. Our group previously reported a family with autosomal dominantly inherited HSCR associated with multiple sclerosis.…”

Section: Figurementioning

confidence: 88%

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Maternal Risk Factors and Perinatal Characteristics for Hirschsprung Disease

Granström¹,

Svenningsson²,

Hagel

et al. 2016

Pediatrics

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Section: Figurementioning

confidence: 88%

“…1 Best et al recently reported a slightly increasing prevalence of HSCR in Europe. 2 HSCR is known to be a multifactorial disease caused by both genetic and environmental factors. Mutations in >10 genes have been associated with HSCR, particularly the RET gene, in which 15% to 20% of patients with isolated HSCR have mutations.…”

mentioning

confidence: 99%

Maternal Risk Factors and Perinatal Characteristics for Hirschsprung Disease

Granström¹,

Svenningsson²,

Hagel

et al. 2016

Pediatrics

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“…The total prevalence of HSCR in Europe between years 1980-2009 was 1.09 per 10,000 births (26). In HSCR is a gender disparity among the patients, with the male to female ratio as high as 5 : 1.…”

Section: Discussionmentioning

confidence: 99%

An embryological point of view on associated congenital anomalies of children with Hirschsprung disease

Slavikova¹,

Zabojnikova²,

J³

et al. 2015

BLL

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The most common congenital gut motility disorder is the Hirschsprung disease (HSCR). This anomaly is characterized by absence of neural crest-derived enteric neuronal ganglia. The aim of our study was to analyze the relationship between HSCR and other congenital anomalies or malfunctions. We examined 130 patients with Hirschsprung disease from Slovakia for last 10 years. During patients examination we focused not only on morphological abnormalities, but also functional anomalies. The incidence of associated congenital anomalies in our patients with HSCR was 26.1 %. But if we add functional defects (hypothyroidism, malfunction in cellular immunity, neurological defi cit) to the morphological congenital abnormalities, the rate of the patients with HSCR with additional defects achieves 50.1 %. Nine of our patients (6.9 %) had syndromic HSCR. The most frequent disorder (13.6 % of patients) was primary defi ciency in cellular immunity. More than 12.3 % of patients with HSCR had genitourinary abnormalities, in 10.0 % of patients variable degree of psychomotor retardation was observed, and skeletal, muscle and limb anomalies involved 7.7 % of patients. In 7.6 % cases of patients we found congenital hypothyroidism (including 2 cases of agenesis of thyroid gland). More than 6.1 % of patients presented with an associated anomaly in gastrointestinal tract (mostly anorectal malformations). Up to 5.5 % patients had congenital anomaly of heart, 3.8 % had ophthalmic and 3.1 % had craniofacial anomalies. Down syndrome was the main diagnosis in 3.8 % patients. We discussed the relationship between HSCR and other anomalies, which are probably caused by abnormal migration, proliferation, or differentiation, of neural crest cells during embryogenesis (Tab. 1, Fig. 2, Ref. 75). Text in PDF www.elis.sk.

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“…Although recent studies reported on a small but significant increase over the last three decades, HD remains a relatively rare congenital malformation with current prevalence rates of 1.09-1.63 per 10,000 live births [1,2]. The diagnosis of HD can be difficult as it relies on histological confirmation of complete absence of enteric ganglion cells in the myenteric and submucosal plexus of the distal rectum, which extends proximally for varying distance.…”

Section: Introductionmentioning

confidence: 99%