(Q43.1) Hirschsprung disease

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374 490 in individuals diagnosis hirschsprung disease confirmed

4 929 deaths with diagnosis hirschsprung disease

1% mortality rate associated with the disease hirschsprung disease

Etiology Pathogenesis Clinical Pattern Diagnostics Treatment Prevention

Diagnosis hirschsprung disease is diagnosed Men are 30.76% more likely than Women

244 834

Men receive the diagnosis hirschsprung disease

3 232 (1.3 %)

Died from this diagnosis.

100

129 656

Women receive the diagnosis hirschsprung disease

1 697 (1.3 %)

Died from this diagnosis.

Risk Group for the Disease hirschsprung disease - Men and Women aged 0-5

In Men diagnosis is most often set at age 0-89

Less common in men the disease occurs at Age 90-95+in in women, the disease manifests at any age

In Women diagnosis is most often set at age 0-95+

Disease Features hirschsprung disease

Non-contagious

Moderate individual risk, low public risk

Hirschsprung disease - what does this mean

Hirschsprung disease is a congenital disorder caused by the absence of nerve cells in the wall of the large intestine. this causes a functional obstruction in the intestine, resulting in difficulty with passing stools and abdominal distension.

What happens during the disease - hirschsprung disease

Развитие болезни Гиршпрунга обусловлено нарушением эмбриогенеза предположительно на 7-12 неделях гестационного срока, когда формируются нервные сплетения Мейснера (в подслизистом слое толстой кишки) и Ауэрбаха (в мышечной оболочке кишечника). Из-за преждевременного прекращения миграции нейробластов или их недостаточной дифференцировки вместо типичных подслизистого и мышечно-кишечного сплетений с ганглиями нейроструктуры кишки представлены отдельными нервными волокнами и глиальными элементами.

Чем раньше завершается миграция нейробластов, тем более протяженным является аганглиозный участок толстокишечной стенки. В слизистом слое накапливается ацетилхолинэстераза, которая вызывает спазм кишки, что является патогномоничным признаком аномалии Гиршпрунга. Из-за тонического спазмирования и отсутствия перистальтики денервированный сегмент становится функциональным препятствием для продвижения каловых масс. Хроническая задержка кишечного содержимого приводит к постоянным запорам и значительному расширению вышележащего отдела кишечника.

Clinical Pattern

More details coming soon

How does a doctor diagnose

Physical examination
Barium enema
Anorectal manometry
Rectal biopsy
Genetic testing

Additions:

Imaging tests (e.g. X-rays, CT scans, MRI)
Blood tests

Treatment and Medical Assistance

Main Goal: Treating Hirschsprung disease

Performing a surgical procedure to remove the affected portion of the intestine
Performing a colostomy to divert the feces away from the affected area
Administering antibiotics to prevent and treat infections
Providing nutrition through a feeding tube
Monitoring the patient's progress and adjusting the treatment plan accordingly
Providing emotional support to the patient and their family

16 Days of Hospitalization Required

Average Time for Outpatient Care Not Established

Hirschsprung disease - Prevention

Hirschsprung disease can be prevented by avoiding exposure to environmental toxins and maintaining a healthy lifestyle. additionally, genetic counseling should be sought if there is a family history of the disease.

Main symptoms of the disease hirschsprung disease

Constipation

(Strained bowel movements, Infrequent bowel movements, Difficulty passing stool, Hardened stool, Blocked bowel, Backed-up bowels, Sluggish intestines, Stiff feces, Clogged bowels, Clogged intestines, Stalled digestion, Backed-up colon, Trouble elimina...)

Constipation is a common digestive disorder characterized by infrequent bowel movements, difficulty passing stools, and hard, dry stools. It may also be accompanied by abdominal pain, bloating, and feelings of incomplete evacuation. Constipation typically develops over time due to dietary changes, l...

Age: any ageAccociated with 59 diseases

Flatulence

(Gas, Bloating, Burping, Passing wind, Passing gas, Fullness, Abdominal distention, Excess gas, Belching)

Flatulence is the passing of gas from the digestive tract out of the anus. It is a normal bodily function that can be caused by certain foods, beverages, or medications. Symptoms can range from mild to severe and can be accompanied by abdominal pain, bloating, and discomfort. Symptoms can develop gr...

Age: any ageAccociated with 49 diseases

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