Laboratory Procedures Update on Hirschsprung Disease

Takawira, Catherine; D’Agostini, Stephanie; Shenouda, Suzan; Persad, Rabin; Sergi, Consolato

doi:10.1097/mpg.0000000000000679

Cited by 41 publications

(52 citation statements)

References 49 publications

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“…Hirschprung's disease (HSCR; MIM# 142623), one disorder of the ENS, is a rare congenital developmental disorder of the gastrointestinal tract characterized by a failure of vagal system derived enteric neural crest (NC) cells (ENCC) (neurocristopathy) to fully migrate cranio-caudally during embryonic development and adequately colonize the entire gut, leaving an aganglionic portion of variable length (6)(7)(8)(9). Although original studies suggested colonization of the entire length of the human gut by enteric neural precursors is not complete until the 12th week of gestation, more recent studies seem to support complete colonization by the 7th week, which corresponds more closely with data obtained from animal models as well (10).…”

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confidence: 99%

“…When suspected, HSCR is diagnosed by standard histopathological evaluation with or without auxiliary special stains or immunohistochemistry that confirms the diagnosis following biopsy of the distal rectum (Figure 1a-c). Expression of calretinin, a vitamin D-dependent calcium-binding protein found in ganglion cells and nerves, has been described as an adjunctive or primary diagnostic test on gut biopsy specimens in HSCR with lack of specific calretinin staining confirming the diagnosis of aganglionosis (Figure 1d) (8). Classifying HSCR clinically is not an easy task, because the nervous system colonization failure may be variable or discontinuous (9,(13)(14)(15).…”

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confidence: 99%

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Hirschsprung’s disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives

et al. 2016

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On the occasion of the 100th anniversary of Dr. Harald Hirschsprung's death, there is a worldwide significant research effort toward identifying and understanding the role of genes and biochemical pathways involved in the pathogenesis as well as the use of new therapies for the disease harboring his name (Hirschsprung disease, HSCR). HSCR (aganglionic megacolon) is a frequent diagnostic and clinical challenge in perinatology and pediatric surgery, and a major cause of neonatal intestinal obstruction. HSCR is characterized by the absence of ganglia of the enteric nervous system, mostly in the distal gastrointestinal tract. This review focuses on current understanding of genes and pathways associated with HSCR and summarizes recent knowledge related to micro RNAs (miRNAs) and HSCR pathogenesis. While commonly sporadic, Mendelian patterns of inheritance have been described in syndromic cases with HSCR. Although only half of the patients with HSCR have mutations in specific genes related to early embryonic development, recent pathway-based analysis suggests that gene modules with common functions may be associated with HSCR in different populations. This comprehensive profile of functional gene modules may serve as a useful resource for future developmental, biochemical, and genetic studies providing insights into the complex nature of HSCR.

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confidence: 99%

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Hirschsprung’s disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives

et al. 2016

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“…The diagnostic evaluation of HD consists of a contrast enema, anorectal manometry, and rectal biopsy. Of these, contrast enema and anorectal manometry are not confirmatory, and rectal biopsy is required to confirm the diagnosis . In our study, rectoanal inhibitory reflex (RAIR) was absent in a majority of the children undergoing rectal biopsy.…”

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confidence: 64%

“…Various techniques have been described to procure rectal biopsy. These include suction biopsy, full‐thickness rectal biopsy, and biopsy with a jumbo forceps . Rectal suction biopsy is the most preferred sampling technique for the diagnosis of HD.…”

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confidence: 99%

Diagnosis of Hirschsprung's disease in children: Preliminary evaluation of a novel endoscopic technique for rectal biopsy

et al. 2018

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Background and AimThe diagnosis of Hirschsprung's disease (HD) relies on anorectal manometry and rectal biopsy. The role of endoscopic biopsy is uncertain for the diagnosis of HD in children. In this study, we evaluated the adequacy of biopsies procured by endoscopic mucosal resection (EMR) for the diagnosis of HD.MethodsConsecutive children with suspected HD from January 2013 to January 2018 were enrolled in the study. EMR was performed using the standard band ligation device at a distance of about 3 cm from dentate line in rectum. All samples were assessed macroscopically and microscopically. An adequate sample was defined as those measuring >3 mm and including adequate submucosa.ResultsA total of 132 children underwent evaluation for constipation in the study period. Of these, 10 children (median age, 4.25 years) underwent EMR using the band ligation device for the evaluation of HD. EMR was performed with and without submucosal lifting injection in four and six children, respectively. All the samples were adequate macroscopically (>3 mm). Absence of ganglion cells was noted in six children. Of these, three children underwent full‐thickness rectal biopsy followed by surgery. Three children did not undergo surgery. Ganglion cells were identified in four children, thereby excluding the diagnosis of HD.ConclusionRectal biopsy using EMR with a band ligation device is feasible, safe, and provides adequate sample for the evaluation of HD in children.

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“…On the other hand, the immune system, as well as the pulmonary and gastrointestinal organs, remain difficult to manage. At this age an increased rate of infection has been identified, and gastrointestinal dysfunction is common [1][2][3][4][5][6]. Cardiovascular function and sepsis are intimately related and may trigger early death without NICU or PICU intervention [7].…”

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confidence: 99%