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Hirschsprung disease 4(HSCR4)

MedGen UID:
462325
Concept ID:
C3150975
Finding
Synonyms: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4; HSCR4
 
Gene (location): EDN3 (20q13.32)
OMIM®: 613712

Definition

The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008). For a discussion of genetic heterogeneity of susceptibility to Hirschsprung disease, see 142623. [from OMIM]

Additional description

From GHR
Hirschsprung disease is an intestinal disorder characterized by the absence of nerves in parts of the intestine. This condition occurs when the nerves in the intestine (enteric nerves) do not form properly during development before birth (embryonic development). This condition is usually identified in the first two months of life, although less severe cases may be diagnosed later in childhood. Enteric nerves trigger the muscle contractions that move stool through the intestine. Without these nerves in parts of the intestine, the material cannot be pushed through, causing severe constipation or complete blockage of the intestine in people with Hirschsprung disease. Other signs and symptoms of this condition include vomiting, abdominal pain or swelling, diarrhea, poor feeding, malnutrition, and slow growth. People with this disorder are at risk of developing more serious conditions such as inflammation of the intestine (enterocolitis) or a hole in the wall of the intestine (intestinal perforation), which can cause serious infection and may be fatal. There are two main types of Hirschsprung disease, known as short-segment disease and long-segment disease, which are defined by the region of the intestine lacking nerve cells. In short-segment disease, nerve cells are missing from only the last segment of the large intestine. This type is most common, occurring in approximately 80 percent of people with Hirschsprung disease. For unknown reasons, short-segment disease is four times more common in men than in women. Long-segment disease occurs when nerve cells are missing from most of the large intestine and is the more severe type. Long-segment disease is found in approximately 20 percent of people with Hirschsprung disease and affects men and women equally. Very rarely, nerve cells are missing from the entire large intestine and sometimes part of the small intestine (total colonic aganglionosis) or from all of the large and small intestine (total intestinal aganglionosis). Hirschsprung disease can occur in combination with other conditions, such as Waardenburg syndrome, type IV; Mowat-Wilson syndrome; or congenital central hypoventilation syndrome. These cases are described as syndromic. Hirschsprung disease can also occur without other conditions, and these cases are referred to as isolated or nonsyndromic.  http://ghr.nlm.nih.gov/condition/hirschsprung-disease

Recent clinical studies

Etiology

Chen D, Mi J, Liu X, Zhang J, Wang W, Gao H
Int J Clin Exp Pathol 2014;7(4):1359-68. Epub 2014 Mar 15 PMID: 24817932Free PMC Article
Dickie BH, Webb KM, Eradi B, Levitt MA
J Pediatr Surg 2014 Jan;49(1):77-80; discussion 80-1. Epub 2013 Oct 5 doi: 10.1016/j.jpedsurg.2013.09.034. [Epub ahead of print] PMID: 24439585
Kapur RP
Pediatr Dev Pathol 2014 Jan-Feb;17(1):28-35. Epub 2013 Oct 29 doi: 10.2350/13-10-1387-OA.1. [Epub ahead of print] PMID: 24168728
Peres LC, Cohen MC
Forensic Sci Med Pathol 2013 Dec;9(4):558-63. Epub 2013 Jul 11 doi: 10.1007/s12024-013-9465-z. [Epub ahead of print] PMID: 23842858
de Arruda Lourenção PL, Takegawa BK, Ortolan EV, Terra SA, Rodrigues MA
Ann Diagn Pathol 2013 Aug;17(4):352-6. Epub 2013 May 14 doi: 10.1016/j.anndiagpath.2013.04.004. [Epub ahead of print] PMID: 23683882

Diagnosis

Gui H, Bao JY, Tang CS, So MT, Ngo DN, Tran AQ, Bui DH, Pham DH, Nguyen TL, Tong A, Lok S, Sham PC, Tam PK, Cherny SS, Garcia-Barcelo MM
Ann Hum Genet 2014 Sep;78(5):381-7. Epub 2014 Jun 20 doi: 10.1111/ahg.12076. [Epub ahead of print] PMID: 24947032
Chen D, Mi J, Liu X, Zhang J, Wang W, Gao H
Int J Clin Exp Pathol 2014;7(4):1359-68. Epub 2014 Mar 15 PMID: 24817932Free PMC Article
Kapur RP
Pediatr Dev Pathol 2014 Jan-Feb;17(1):28-35. Epub 2013 Oct 29 doi: 10.2350/13-10-1387-OA.1. [Epub ahead of print] PMID: 24168728
Peres LC, Cohen MC
Forensic Sci Med Pathol 2013 Dec;9(4):558-63. Epub 2013 Jul 11 doi: 10.1007/s12024-013-9465-z. [Epub ahead of print] PMID: 23842858
de Arruda Lourenção PL, Takegawa BK, Ortolan EV, Terra SA, Rodrigues MA
Ann Diagn Pathol 2013 Aug;17(4):352-6. Epub 2013 May 14 doi: 10.1016/j.anndiagpath.2013.04.004. [Epub ahead of print] PMID: 23683882

Therapy

Nasr A, Haricharan RN, Gamarnik J, Langer JC
J Pediatr Surg 2014 May;49(5):774-6. Epub 2014 Feb 22 doi: 10.1016/j.jpedsurg.2014.02.073. [Epub ahead of print] PMID: 24851768
Al-Jazaeri A, Al-Shanafey S, Zamakhshary M, Al-Jarbou W, Hajr E, Breakeit M, Qutob S
J Pediatr Surg 2012 May;47(5):952-5. doi: 10.1016/j.jpedsurg.2012.01.052. PMID: 22595580
Coe A, Collins MH, Lawal T, Louden E, Levitt MA, Peña A
Pediatr Dev Pathol 2012 Jan-Feb;15(1):30-8. Epub 2011 Nov 23 doi: 10.2350/11-02-0977-OA.1. [Epub ahead of print] PMID: 22111560
Jarry J, Faucheron JL
Dis Colon Rectum 2011 Oct;54(10):1313-9. doi: 10.1097/DCR.0b013e3182270c41. PMID: 21904148
Hirsch BZ, Angelides AG, Goode SP, Garb JL
J Pediatr Gastroenterol Nutr 2011 Apr;52(4):429-32. doi: 10.1097/MPG.0b013e3181ecd644. PMID: 21206383

Prognosis

Peres LC, Cohen MC
Forensic Sci Med Pathol 2013 Dec;9(4):558-63. Epub 2013 Jul 11 doi: 10.1007/s12024-013-9465-z. [Epub ahead of print] PMID: 23842858
Aworanti O, Hung J, McDowell D, Martin I, Quinn F
Eur J Pediatr Surg 2013 Oct;23(5):383-8. Epub 2013 Feb 26 doi: 10.1055/s-0033-1333635. [Epub ahead of print] PMID: 23444066
Sun X, Wang R, Zhang L, Li D, Li Y
Eur J Pediatr Surg 2012 Aug;22(4):300-4. Epub 2012 May 30 doi: 10.1055/s-0032-1313351. [Epub ahead of print] PMID: 22648188
Holland SK, Ramalingam P, Podolsky RH, Reid-Nicholson MD, Lee JR
Ann Diagn Pathol 2011 Oct;15(5):323-8. Epub 2011 Jun 8 doi: 10.1016/j.anndiagpath.2011.02.010. [Epub ahead of print] PMID: 21641840
Ieiri S, Nakatsuji T, Akiyoshi J, Higashi M, Hashizume M, Suita S, Taguchi T
J Pediatr Surg 2010 Dec;45(12):2398-402. doi: 10.1016/j.jpedsurg.2010.08.040. PMID: 21129554

Clinical prediction guides

Kapur RP
Pediatr Dev Pathol 2014 Jan-Feb;17(1):28-35. Epub 2013 Oct 29 doi: 10.2350/13-10-1387-OA.1. [Epub ahead of print] PMID: 24168728
Virtanen VB, Pukkala E, Kivisaari R, Salo PP, Koivusalo A, Arola J, Miettinen PJ, Rintala RJ, Perola M, Pakarinen MP
Endocr Relat Cancer 2013 Aug;20(4):595-602. Epub 2013 Jul 12 doi: 10.1530/ERC-13-0082. PMID: 23744765
de Arruda Lourenção PL, Takegawa BK, Ortolan EV, Terra SA, Rodrigues MA
Ann Diagn Pathol 2013 Aug;17(4):352-6. Epub 2013 May 14 doi: 10.1016/j.anndiagpath.2013.04.004. [Epub ahead of print] PMID: 23683882
Sun X, Wang R, Zhang L, Li D, Li Y
Eur J Pediatr Surg 2012 Aug;22(4):300-4. Epub 2012 May 30 doi: 10.1055/s-0032-1313351. [Epub ahead of print] PMID: 22648188
Holland SK, Ramalingam P, Podolsky RH, Reid-Nicholson MD, Lee JR
Ann Diagn Pathol 2011 Oct;15(5):323-8. Epub 2011 Jun 8 doi: 10.1016/j.anndiagpath.2011.02.010. [Epub ahead of print] PMID: 21641840

Recent systematic reviews

Coyle D, Friedmacher F, Puri P
Pediatr Surg Int 2014 Aug;30(8):751-6. Epub 2014 Jun 28 doi: 10.1007/s00383-014-3538-2. [Epub ahead of print] PMID: 24972642
Hofmann AD, Puri P
Pediatr Surg Int 2013 Sep;29(9):913-7. doi: 10.1007/s00383-013-3352-2. PMID: 23948812
Friedmacher F, Puri P
Pediatr Surg Int 2013 Sep;29(9):937-46. doi: 10.1007/s00383-013-3361-1. PMID: 23943251
Aworanti O, Hung J, McDowell D, Martin I, Quinn F
Eur J Pediatr Surg 2013 Oct;23(5):383-8. Epub 2013 Feb 26 doi: 10.1055/s-0033-1333635. [Epub ahead of print] PMID: 23444066
Chumpitazi BP, Nurko S
J Pediatr Gastroenterol Nutr 2011 Jul;53(1):75-9. doi: 10.1097/MPG.0b013e318212eb53. PMID: 21694540

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