Hirschsprung disease type 3
Hirschsprung Disease Type 3 Hirschsprung disease type 3 is a rare genetic disorder characterized by the absence of ganglion cells in the intestines, leading to severe bowel obstruction. This condition is a subtype of Hirschsprung disease, which is a congenital disorder affecting the colon.
Overview[edit | edit source]
Hirschsprung disease type 3 is part of a group of disorders known as congenital aganglionic megacolon. It is caused by mutations in specific genes that are crucial for the development of the enteric nervous system. The absence of ganglion cells results in a lack of peristalsis in the affected segment of the bowel, causing a functional obstruction.
Genetics[edit | edit source]
Hirschsprung disease type 3 is associated with mutations in the RET proto-oncogene, which plays a significant role in the development of the enteric nervous system. Other genes that may be involved include EDNRB and EDN3. The inheritance pattern can be autosomal dominant or autosomal recessive, depending on the specific genetic mutation.
Symptoms[edit | edit source]
The primary symptom of Hirschsprung disease type 3 is severe constipation, which is present from birth. Other symptoms may include:
- Abdominal distension
- Vomiting
- Failure to pass meconium within the first 48 hours of life
- Poor feeding and weight gain
Diagnosis[edit | edit source]
Diagnosis of Hirschsprung disease type 3 typically involves:
- A physical examination
- Imaging studies such as an abdominal X-ray or contrast enema
- A rectal biopsy to confirm the absence of ganglion cells
Treatment[edit | edit source]
The main treatment for Hirschsprung disease type 3 is surgical intervention. The most common procedure is a pull-through surgery, where the aganglionic segment of the bowel is removed, and the healthy part is connected to the anus. Postoperative care is crucial to manage complications and ensure proper bowel function.
Prognosis[edit | edit source]
With early diagnosis and appropriate surgical treatment, the prognosis for individuals with Hirschsprung disease type 3 is generally good. However, some patients may experience long-term complications such as enterocolitis, bowel obstruction, or incontinence.
Research[edit | edit source]
Ongoing research is focused on understanding the genetic basis of Hirschsprung disease type 3 and developing new treatment strategies. Studies are also exploring the role of stem cell therapy in regenerating enteric neurons.
See Also[edit | edit source]
External Links[edit | edit source]
- National Organization for Rare Disorders
- [(https://ghr.nlm.nih.gov Genetics Home Reference]
NIH genetic and rare disease info[edit source]
Hirschsprung disease type 3 is a rare disease.
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
