Gastrointestinal Tract - Abnormalities: Difference between revisions
mNo edit summary |
mNo edit summary |
||
Line 127: | Line 127: | ||
* Pyloric atresia (PA) - a very rare condition (incidence 1 in 100,000 newborns) and about 1% of all intestinal atresias. | * Pyloric atresia (PA) - a very rare condition (incidence 1 in 100,000 newborns) and about 1% of all intestinal atresias. | ||
{| | |||
! Oesophageal Atresia<ref name=PMID22851858><pubmed>22851858</pubmed>| [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3406418 PMC3406418] | [http://www.wjgnet.com/1007-9327/full/v18/i28/3662.htm World J Gastroenterol.] | |||
|- | |||
| [[File:Oesophageal atresia x-ray 01.jpg|300px]] | |||
| [[File:Classification of Oesophageal atresia.jpg|300px]] | |||
|- | |||
| Oesophageal atresia x-ray | |||
| Classification of Oesophageal atresia | |||
|} | |||
===Stenosis=== | ===Stenosis=== | ||
Revision as of 17:17, 9 May 2015
Embryology - 2 Jun 2024 Expand to Translate |
---|
Google Translate - select your language from the list shown below (this will open a new external page) |
العربية | català | 中文 | 中國傳統的 | français | Deutsche | עִברִית | हिंदी | bahasa Indonesia | italiano | 日本語 | 한국어 | မြန်မာ | Pilipino | Polskie | português | ਪੰਜਾਬੀ ਦੇ | Română | русский | Español | Swahili | Svensk | ไทย | Türkçe | اردو | ייִדיש | Tiếng Việt These external translations are automated and may not be accurate. (More? About Translations) |
Introduction
The "simple tube" of the gastrointestinal tract and its associated organs have many different tract and organ specific abnormalities. Due to the complex nature (different germ layer contributions, organogenisis) of the growth, elongation and folding of the tract, there are also several mechanical disorders of folding (rotation). Musculoskeletal abnormalities of the anterior body wall can also result in gastrointestinal abnormalities.
Note that as this system begins function (digestively) postnatally, unless there is a determined genetic history within the family, several abnormalities only become evident postnatally, in particular, metabolic disorders often identified by the Guthrie test.
International Classification of Diseases
ICD10 Other congenital malformations of the digestive system (Q38-Q45) | ||||||
---|---|---|---|---|---|---|
XVII Congenital Malformations - Other congenital malformations of the digestive system (Q38-Q45) | ||||||
Q38 Other congenital malformations of tongue, mouth and pharynx
Excl.: macrostomia (Q18.4) microstomia (Q18.5)
| ||||||
Q39 Congenital malformations of oesophagus
| ||||||
Q40 Other congenital malformations of upper alimentary tract
| ||||||
Q41 Congenital absence, atresia and stenosis of small intestine
Incl.: congenital obstruction, occlusion and stricture of small intestine or intestine NOS Excl.: meconium ileus (E84.1)
| ||||||
Q42 Congenital absence, atresia and stenosis of large intestine
Incl.: congenital obstruction, occlusion and stricture of large intestine
| ||||||
Q43 Other congenital malformations of intestine
| ||||||
Q44 Congenital malformations of gallbladder, bile ducts and liver
| ||||||
Q45 Other congenital malformations of digestive system
Excl.: congenital: diaphragmatic hernia (Q79.0) hiatus hernia (Q40.1)
| ||||||
World Health Organisation. International Statistical Classification of Diseases and Related Health Problems. (1992) 10th Revision (ICD-10). Geneva: WHO ICD-10 - 2016 Online (English) | ||||||
Links: Gastrointestinal Abnormalities
| ||||||
ICD10 - Gastrointestinal | Genital | Renal | Integumentary |
Some Recent Findings
|
More recent papers |
---|
This table allows an automated computer search of the external PubMed database using the listed "Search term" text link.
More? References | Discussion Page | Journal Searches | 2019 References | 2020 References Search term: Abnormal Development Gastrointestinal Tract <pubmed limit=5>Abnormal Development Gastrointestinal Tract</pubmed> |
Movies
|
|
|
|
Statistics
Australian
The pie diagram shows the relative contribution of major gastrointestinal tract abnormalities as a percentage of the total number of congenital abnormalities in Australia beween 1981 - 92.
Note that the digestive system represents approximately 6% of all major congenital abnormalities. One of the most common abnormalities occurring in (2% - 3% population) is Meckel's Diverticulum. The mouth (cleft lip, cleft palate) is part of the digestive tract, but more accurately reflects an abnormality of face formation. | |
Data shown as a percentage of all major abnormalities based upon published statistics using the same groupings as Congenital Malformations Australia 1981-1992 P. Lancaster and E. Pedisich ISSN 1321-8352. |
Australian GIT Abnormalities (2002-2003) |
---|
Oesophageal atresia/stenosis - (2.0 per 10,000 births) ICD-10 Q39.0–Q39.3
|
Small intestinal atresia/stenosis - (2.4 per 10,000 births) ICD-10 Q41.0-Q41.2
|
Anorectal atresia/stenosis - ( 3.1 per 10,000 births) ICD-10 Q42.0–Q42.3
|
Hirschsprung’s disease - (1.3 per 10,000 births) ICD-10 Q43.1
|
Exomphalos - (Omphalocele) (2.1 per 10,000 births) ICD-10 Q79.2
|
Gastroschisis - (2.6 per 10,000 births) ICD-10 Q79.3
|
|
Australian Palate Abnormalities (2002-2003) |
---|
Cleft lip with or without cleft palate (9.2 per 10,000 births) ICD-10 Q36.0, Q36.1, Q36.9, Q37.0–Q37.5, Q37.8, Q37.9 |
A congenital anomaly characterised by a partial or complete clefting of the upper lip, with or without clefting of the alveolar ridge or the hard palate. Excludes a midline cleft of the upper or lower lip and an oblique facial fissure (going towards the eye).
|
Cleft palate without cleft lip (8.1 per 10,000 births) ICD-10 Q35.0–Q35.9 |
A congenital anomaly characterised by a closure defect of the hard and/or soft palate behind the foramen incisivum without a cleft lip. This anomaly includes sub-mucous cleft palate, but excludes cleft palate with a cleft lip, a functional short palate and high narrow palate.
|
|
USA Selected
CDC National estimates for selected GIT related major birth defects (2004–2006).
Birth Defects | Cases per Births (1 in ...) | Estimated Annual Number of Cases |
---|---|---|
Cleft palate without cleft lip | 1,574 | 2,651 |
Cleft lip with and without cleft palate | 940 | 4,437 |
Esophageal atresia/tracheoesophageal fistula | 4,608 | 905 |
Rectal and large intestinal atresia/stenosis | 2,138 | 1,952 |
Gastroschisis | 2,229 | 1,871 |
Omphalocele | 5,386 | 775 |
Diaphragmatic hernia | 3,836 | 1,088 |
Trisomy 21 (Down syndrome) | 691 | 6,037 |
Some Recent Findings
|
More recent papers |
---|
This table allows an automated computer search of the external PubMed database using the listed "Search term" text link.
More? References | Discussion Page | Journal Searches | 2019 References | 2020 References Search term: Abnormal Development Gastrointestinal Tract <pubmed limit=5>Abnormal Development Gastrointestinal Tract</pubmed> |
GIT Lumen Abnormalities
There are several types of abnormalities (atresia, stenosis and duplication) that impact upon the continuity of the gastrointestinal tract lumen.
Atresia
An interruption of the lumen (esophageal atresia, duodenal atresia, extrahepatic biliary atresia, anorectal atresia)
- Pyloric atresia (PA) - a very rare condition (incidence 1 in 100,000 newborns) and about 1% of all intestinal atresias.
Oesophageal AtresiaCite error: Closing </ref> missing for <ref> tag
DuplicationAn incomplete recanalization resulting in parallel lumens, this is really a specialized form of stenosis.
Intestinal Malrotation
VolvulusTwisting of the midgut (bowel) which causes obstruction to the flow of material. Can include a variable loss of local blood supply which leads to tissue death.
Diagnosis is generally by upper gastrointestinal radiologic examination or less frequently by barium enema or CT scan. Corrective surgery is generally by the Ladd's procedure, even with surgical treatment there is still significant associated complications and long-term morbidity. What abnormal embryological processes could interfere with normal rotation and fixation of the gut? Search PubMed: intestinal+malrotation OMIM: Volvulus of Midgut Links: Medlineplus - childhood volvulus | AAFP - Bilious Vomiting in the Newborn | Pediatric education - Neonatal Bilious Emesis | Situs Inversus VisceraDisturbance of the lateralisation of the liver may produce transposition of some or all of the foregut and its derivatives.
Search PubMed: Situs Inversus Viscera Meckel's DiverticulumThis GIT abnormality is a very common (incidence of 1–2% in the general population) and results from improper closure and absorption of the omphalomesenteric duct (vitelline duct) in development. This transient developmental duct connects the yolk to the primitive gastrointestinal tract. In addition to Meckel's diverticulum there are a range of other vitelline duct abnormalities, which depend on the degree from a completely patent duct at the umbilicus to lesser remnants (cysts, fibrous cords connecting umbilicus to distal ileum, granulation tissue at umbilicus, or umbilical hernias).
Intestinal Aganglionosis(intestinal aganglionosis, Hirschsprung's disease, aganglionic colon, megacolon, congenital aganglionic megacolon, congenital megacolon) A condition caused by the lack of enteric nervous system (neural ganglia) in the intestinal tract responsible for gastric motility (peristalsis). In general, its severity is dependent upon the amount of the GIT that lacks intrinsic ganglia, due to developmental lack of neural crest migration into those segments. (More? Neural Crest System - Abnormalities) Historically, Hirschsprung's disease takes its name from Dr Harald Hirschsprung (1830-1916) a Danish pediatrician (of German extraction). In 1886, he presented at the German Society of Pediatrics conference in Berlin a case of 2 infants who died of complications of bowel obstruction (H. Hirschsprung, Stuhltragheit Neugeborener in Folge von Dilatation und Hypertrophie des Colons, Jhrb f Kinderh 27 (1888), pp. 1-7). Later autopsies identified a dilatation and hypertrophy of large intestine, and the rectum appeared normally narrow. Hirschsprung suggested that the condition was an inborn disease and named it congenital megacolon. The first indication in newborns is an absence of the first bowel movement, other symptoms include throwing up and intestinal infections. Clinically this is detected by one or more tests (barium enema and x ray, manometry or biopsy) and can currently only be treated by surgery. A temoporary ostomy (Colostomy or Ileostomy) with a stoma is carried out prior to a more permanent pull-through surgery.
GastroschisisBy definition, it is a body wall musculoskeletal defect, not a gastrointestinal tract defect, which in turn impacts upon GIT development.
Gastroschisis ClassificationThere has been a recent attempt to classify gastroschisis in order to measure clinical outcomes.[8]
OmphaloceleAn abnormality appearing similar to gastroschisis, involves "covered by membranes" and a lack of normal return of the bowel to the abdominal cavity and has a different position relative to the umbilical cord. The origin differs, as this is a failure of midgut loops to return to the body cavity after initial herniation into the umbilical cord during week 6 - 10.
Short-Bowel SyndromeNot generally a developmental abnormality, but related to therapeutic intervention in GIT abnormalities or disease. Short bowel syndrome is a group of problems affecting people who have had half or more of their small intestine removed. The most common reason for removing part of the small intestine is to treat Crohn's disease. Short bowel syndrome is treated through changes in diet, intravenous feeding, vitamin and mineral supplements, and medicine to relieve symptoms. (NDDIC)
Obstetric CholestasisA recent paper in the British Medical Journal discusses this pregnancy associated disease. "Obstetric cholestasis (or intrahepatic cholestasis of pregnancy) remains widely disregarded as an important clinical problem, with many obstetricians still considering its main symptom, pruritus, a natural association of pregnancy. Obstetric cholestasis is associated with cholesterol gallstones. It may be extremely stressful for the mother but also carries risks for the baby." Piotr Milkiewicz, Elwyn Elias, Catherine Williamson, and Judith Weaver BMJ 2002; 324: 123-124 Small Bowel ObstructionThe are two major forms of small bowel obstruction are from either external (extrinsic) or internal (intrinsic) causes. Listed below are a few examples of both causes.
Necrotizing EnterocolitisNecrotizing enterocolitis (NE) is the death of intestinal tissue that occurs postnatally in mainly in premature and low birth weight infants (1 in 2,000 - 4,000 births). The underdeveloped gastointestinal tract appears to be susceptible to bacteria, normally found within the tract,to spread widely to other regions where they damage the tract wall and may enter the bloodstream. Those with a higher risk for this condition include:
Meconium Plug Syndrome(functional immaturity of the colon) Term used to describe a transient disorder of the newborn colon, which is characterized by delayed passage of meconium (more than 24 to 48 h), intestinal dilatation and yellow/green vomiting. More common in premature infants and can be determined by radiological dye study. A recent study[11] by looked at thecorrelation of meconium plug as identified radiologically covering 1994 to 2007, of 77 patients (mean gestational age 37.4 weeks, birth weight, 2977 g) Hirschsprung's disease was found in 10 patients (13%). "Although all patients with plugs and persistent abnormal stooling patterns should prompt a rectal biopsy and genetic probe, the incidence of Hirschsprung's and cystic fibrosis may not be as high as previously reported."
Appendix DuplicationAppendix duplication is an extremely rare congenital anomaly (0.004% to 0.009% of appendectomy specimens) first classified according to their anatomic location by Cave in 1936[12] and a later modified by Wallbridge in 1963[13], subsequently two more types of appendix abnormalities have been identified.[14][15] Modified Cave-Wallbridge Classification (table from[16])
Anorectal Malformations(ARMs) A group of many different abnormalities that can involve the distal anus and rectum as well as the urinary and genital tracts, for review see[17]. Occurring with an incidence of approximately 1 in 5000 live births.
Anal AtresiaAnal atresia or imperforate anus is an abnormality of incomplete anorectal region development occurring in about 1 in 5,000 infants. Resulting in accumulation of stool within the colon.
Congenital CloacaAnal muscles and vagina wall do not form leading to a variable opening composing all or some of the rectum, vagina and bladder. Surgically requires a colostomy and other procedures to transfers a muscle from another part of the body to create a functioning sphincter at the anus. References
Reviews<pubmed>20549505</pubmed>| PMC2908440 <pubmed>15378215</pubmed> <pubmed>15026601</pubmed> <pubmed>12738470</pubmed> <pubmed>11826631</pubmed> <pubmed>11353110</pubmed> Articles<pubmed>19419414</pubmed> <pubmed>17230493</pubmed> <pubmed>16465538</pubmed> <pubmed>16390394</pubmed> <pubmed>16205928</pubmed> <pubmed>16563666</pubmed> <pubmed>15793730</pubmed> <pubmed>15488122</pubmed> <pubmed>12557047</pubmed> Search PubMedSearch Pubmed: gastrointestinal tract abnormalities | intestinal malrotation | Situs Inversus Viscera | Gastroschisis |
Intestinal Aganglionosis
External LinksExternal Links Notice - The dynamic nature of the internet may mean that some of these listed links may no longer function. If the link no longer works search the web with the link text or name. Links to any external commercial sites are provided for information purposes only and should never be considered an endorsement. UNSW Embryology is provided as an educational resource with no clinical information or commercial affiliation.
Glossary Links
Cite this page: Hill, M.A. (2024, June 2) Embryology Gastrointestinal Tract - Abnormalities. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Gastrointestinal_Tract_-_Abnormalities
|
---|