Hirschsprung disease

L Montalva, LS Cheng, R Kapur, JC Langer… - Nature Reviews …, 2023 - nature.com
Hirschsprung disease (HSCR) is a rare congenital intestinal disease that occurs in 1 in
5,000 live births. HSCR is characterized by the absence of ganglion cells in the myenteric …

The emerging genetic landscape of Hirschsprung disease and its potential clinical applications

A Karim, CSM Tang, PKH Tam - Frontiers in Pediatrics, 2021 - frontiersin.org
Hirschsprung disease (HSCR) is the leading cause of neonatal functional intestinal
obstruction. It is a rare congenital disease with an incidence of one in 3,500–5,000 live …

Developmental genetics and congenital anomalies of the kidney and urinary tract

N Uy, K Reidy - Journal of pediatric genetics, 2016 - thieme-connect.com
Congenital anomalies of the kidney and urinary tract (CAKUT) are common birth defects and
the leading cause of end-stage renal disease in children. There is a wide spectrum of renal …

A single RET mutation in Hirschsprung disease induces intestinal aganglionosis via a dominant-negative mechanism

M Sunardi, K Ito, Y Sato, T Uesaka, M Iwasaki… - Cellular and Molecular …, 2023 - Elsevier
Background & Aims Hirschsprung disease (HSCR) is a congenital disorder characterized by
the absence of the enteric nervous system (ENS). HSCR potentially involves multiple gene …

Associated congenital heart disease with Hirschsprung's disease: a retrospective cohort study on 2,174 children

Y Wu, Y Zhu, X Zhang, J Feng, H Xia… - Frontiers in …, 2023 - frontiersin.org
Objective To examine the incidence and phenotypes of congenital heart disease (CHD) in a
large cohort of patients with Hirschsprung's disease (HSCR). Study design Retrospective …

Hirschsprung's disease. Management

C Morera, S Nurko - Alimentary Pharmacology & Therapeutics, 2024 - Wiley Online Library
Background Hirschsprung's disease (HD) is a rare congenital disease that is characterised
by the absence of ganglion cells in the myenteric plexus starting in the distal bowel. This …

A metagenomics study on Hirschsprung's disease associated enterocolitis: biodiversity and gut microbial homeostasis depend on resection length and patient's …

A Pini Prato, C Bartow-McKenney, K Hudspeth… - Frontiers in …, 2019 - frontiersin.org
Objectives: Since 2010, several researches demonstrated that microbiota dynamics
correlate and can even predispose to Hirschsprung (HSCR) associated enterocolitis …

Health-related quality of life and psychosocial morbidity in anorectal malformation and Hirschsprung's disease

X Feng, M Lacher, J Quitmann, S Witt… - European Journal of …, 2020 - thieme-connect.com
Anorectal malformation (ARM) and Hirschsprung's disease (HD) are the most common
congenital colorectal anomalies. Despite advances in surgical techniques and …

Hirschsprung's disease

P Puri, C Tomuschat - Newborn surgery, 2017 - taylorfrancis.com
Hirschsprung's disease (HD) is a relatively common cause of intestinal obstruction in the
newborn. It is characterized by absence of ganglionic cells in the distal bowel beginning at …

Congenital anomalies of the kidney and urinary tract (CAKUT) associated with Hirschsprung's disease: a systematic review

AD Hofmann, JW Duess, P Puri - Pediatric surgery international, 2014 - Springer
Purpose Congenital anomalies of the kidney and urinary tract (CAKUT), a term introduced in
the late 1990s accounts for 30–50% of cases of end-stage renal disease in children. The …