| Hirschsprung's disease | |
|---|---|
| Other names | Aganglionic megacolon, congenital megacolon, congenital intestinal aganglionosis[1] |
 | |
| Histopathology of Hirschsprung disease showing abnormal acetylcholine esterase (AchE)-positive nerve fibers (brown) in the mucosa | |
| Specialty | Medical genetics |
| Symptoms | Constipation, vomiting, abdominal pain, diarrhea, slow growth[1] |
| Complications | Enterocolitis, megacolon, bowel obstruction, intestinal perforation[1][2] |
| Usual onset | First 2 months of life[1] |
| Types | Short-segment, long-segment[1] |
| Causes | Genetic[1] |
| Risk factors | Family history[1] |
| Diagnostic method | Based on symptoms, biopsy[3] |
| Differential diagnosis | Chronic intestinal pseudo-obstruction, meconium ileus[2] |
| Treatment | Surgery[2] |
| Frequency | 1 in 5,000 newborns[1] |
Hirschsprung's disease (HD or HSCR) is a birth defect in which nerves are missing from parts of the intestine.[1][3] The most prominent symptom is constipation.[1] Other symptoms may include vomiting, abdominal pain, diarrhea and slow growth.[1] Most children develop signs and symptoms shortly after birth. However, others may be diagnosed later in infancy or early childhood.[4][5] About half of all children with Hirschsprung's disease are diagnosed in the first year of life.[4] Complications may include enterocolitis, megacolon, bowel obstruction and intestinal perforation.[1][2]
The disorder may occur by itself or in association with other genetic disorders such as Down syndrome or Waardenburg syndrome.[1][2] About half of isolated cases are linked to a specific genetic mutation, and about 20% occur within families.[1] Some of these occur in an autosomal dominant manner.[1] The cause of the remaining cases is unclear.[1] If otherwise normal parents have one child with the condition, the next child has a 4% risk of being affected.[2] The condition is divided into two main types, short-segment and long-segment, depending on how much of the bowel is affected.[1] Rarely, the small bowel may be affected, as well.[2] Diagnosis is based on symptoms and confirmed by biopsy.[3]
Treatment is generally by surgery to remove the affected section of bowel.[2] The surgical procedure most often carried out is known as a "pull through".[3] Occasionally, an intestinal transplantation may be recommended.[2] Hirschsprung's disease occurs in about one in 5,000 of newborns.[1] Males are more often affected than females.[1] The condition is believed to have first been described in 1691 by Dutch anatomist Frederik Ruysch[6] and is named after Danish physician Harald Hirschsprung following his description in 1888.[7][8]
- ^ a b c d e f g h i j k l m n o p q r s "Hirschsprung disease". Genetics Home Reference. August 2012. Retrieved 14 December 2017.
- ^ a b c d e f g h i "Hirschsprung's disease". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. 2017. Archived from the original on 24 November 2018. Retrieved 14 December 2017.
- ^ a b c d "Hirschsprung Disease". NORD (National Organization for Rare Disorders). 2017. Retrieved 14 December 2017.
- ^ a b "Definition & Facts for Hirschsprung Disease - NIDDK". National Institute of Diabetes and Digestive and Kidney Diseases. Retrieved 2023-03-24.
- ^ "Hirschprung's Disease (HSCR) Diagnosis & Treatment". Children's Hospital of Pittsburgh. Retrieved 2023-03-27.
- ^ Holschneider, Alexander Matthias; Puri, Prem (2007). Hirschsprung's Disease and Allied Disorders. Springer Science & Business Media. p. 1. ISBN 9783540339359.
- ^ "Hirschsprung's disease". www.whonamedit.com. Retrieved 8 October 2019.
- ^ Hirschsprung, H. (1888). "Stuhlträgheit Neugeborener in Folge von Dilatation und Hypertrophie des Colons". Jahrbuch für Kinderheilkunde und physische Erziehung. 27. Berlin: 1–7.