Definition of Complete Diagnosis

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DEFINITION OF COMPLETE DIAGNOSIS

Hirschsprungs disease

Hirschsprung's disease is a blockage of the large intestine due to improper muscle

movement in the bowel. It is a congenital condition, which means it is present from birth. Muscle

contractions in the gut help digested materials move through the intestine. This is called

peristalsis. Nerves in between the muscle layers trigger the contractions. In Hirschsprung's

disease, the nerves are missing from a part of the bowel. Areas without such nerves cannot

push material through. This causes a blockage. Intestinal contents build up behind the

blockage, causing the bowel and abdomen to become swollen. Hirschsprung's disease causes

about 25% of all newborn intestinal blockages. It occurs five times more often in males than in

females. Hirschsprung's disease is sometimes associated with other inherited or congenital

conditions, such as Down syndrome.

Source: http://www.nlm.nih.gov/medlineplus/ency/article/001140.htm

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Also known as Congenital Aganglionic Megacolon.It is the congenital absence of or

arrested development of parasympathetic ganglion cells in the intestinal wall, usually in the

distal colon. Symptoms are related to chronic intestinal obstruction and usually appear shortly

after birth but may not be recognized until later in childhood or (rarely) in adulthood. The lack of

colorectal innervation inhibits peristalsis, and the affected portion of intestine becomes spastic

and contracted. The internal rectal sphincter fails to relax, which prevents evacuation of fecal

material and gas and causes severe abdominal distention and constipation. The most common

site affected is the rectosigmoid colon (short segment disease), and the less common is the


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upper descending colon and possibly the transverse colon are affected (long segment disease).

Source: http://nursingcrib.com/nursing-notes-reviewer/hirschsprungs-disease/

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Definition of Hirschsprung's Disease

This disease is the congenital absence of autonomic ganglia in the smooth muscle wall

of the colon, resulting in poor or absent peristalsis in the involved segment of colon,

accumulation of feces, and dilatation of the bowel (megacolon).

Description of Hirschsprung's Disease

Hirschsprung's disease is named after the 19th century doctor, Harold Hirschsprung,

who first identified it in 1886. Hirschsprung's disease, or congenital intestinal aganglionosis

(CIA), is a lack of nerve (ganglion) cells in a segment of the bowel. This interferes with the

squeezing action (peristalsis) which normally moves stool through the intestines. In the majority

of children, the disease is limited to the rectum or rectosigmoid areas.

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(heersh-spruungz)n. a congenital condition in which the rectum and sometimes part of

the lower colon have failed to develop a normal nerve network. The affected portion does not

expand or conduct the contents of the bowel, which accumulate in and distend the upper


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section of the colon.

Source: Oxford Minidictionary for Nurses, page 302

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Hirschsprung's Disease (congenital aganglionic megacolon) is a congenital absence of

the parasympathetic ganglionic nerve cells from within the muscle wall of the intestinal tract,

usually at the distal end of the colon. Occurs in 1 in 5,000 live births with no racial predilection. it

is three times more common in males. Approximately 10% of children with Hirschsprung's

disease have Down syndrome.

Source: The Lippincott Manual of Nursing Practice, Seventh Edition (Philippine Edition), page

1468

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ETIOLOGY

Predisposing Factors

Etiologic

Factors

Rationale Present/Absent Justification

Age Eighty percent of cases are identified in the

first 6 weeks of life. Symptoms begin to show

as early as 6 weeks because Hirschsprung

disease results from a failure of the

craniocaudal migration of ganglion cell

precursors along the gastrointestinal tract

during the 5th

to 12th

weeks of gestation.

Coulson,Walter

Surgical Pathology Vol.1 1978

Present The client at

birth fails to

pass

meconium

within 24 to 48

hours. The

client is 11years old now.

Gender Its up to four times more common in males

than in females thats because there is a sex

difference in the penetrance and expression of

mutations. RET mutation is more likely to be

transmitted to male offspring and the mutation

is more likely to be penetrant in males. This is

only applicable to the short segment disease

type of Hirschsprungs Disease.

Professional Guide to Pathophysiology 2007

Present Since the

patient is male,

this makes him

prone to the

disease.

Genetics Some cases of Hirschsprung disease can be

related to a genetic cause, meaning it is

passed from parent to child through genes.

Mutations in the Retproto-oncogene have

been associated with familial Hirschsprung

disease. Hirschsprungs disease is an

autosomal dominant because the gene RET is

Absent The patient

has no family

history of this

kind of

disease.


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dominant.

http://emedicine.medscape.com/article/929733

-overview

Ethnicity More prevalent in whites.

Lippincott Williams and Wilkins


Absent The patient is

a Filipino.

Other

inheritedor

congenital

conditions

This disease usually coexists with other

congenital anomalies, particularly trisomy 21and anomalies of the urinary tract such as

megaloureter. Down syndrome (trisomy 21) is

the most common chromosomal abnormality

associated with the disease, accounting for

approximately 10 percent of patients.

Lippincott Williams and Wilkins


Absent The child

doesnt haveany inherited

or congenital

conditions

aside from

Hirschsprung

Disease.

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Definition of Complete Diagnosis