A 44-year-old member asked:
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what can i do if hirschsprung disease runs in the family?

4 doctor answers
Dr. James Ferguson
45 years experience Pediatrics
Be prepaired: Hd has a 4% recurrence risk for sibs of a known cast and about 6% of new cases have some positive family history.That said, 80% are thought to represent new mutations. Being aware of presenting symptoms;not passing stool within 24hrs of birth, abdominal distension, vomiting, etc. Can help you be prepared for the possibility & share the suspicion with treating personnel.
Answered on Mar 2, 2013
Dr. Troy Reyna
43 years experience Pediatric Surgery
Be alert: If children have constipation or fail to pas stool with 24-48 hours after being born, make sure your doctor knows about the family history to facilitate getting prompt care.
Answered on Mar 15, 2013
1
1 comment
Dr. Charles Vinocur
47 years experience Pediatric Surgery
If there is a very strong prevalence in the family, you might consider genetic evaluation because it can be suggestive that there is a high liklihood of having the disease. In most cases, it is still sporadic. The advice is correct that all full term babies should pass a meconium stool within 48 hours. However, the converse is not true, having passed the stool rules it out. A biopsy or manometry is the key to diagnosis.
Mar 15, 2013
Dr. Charles Vinocur
47 years experience Pediatric Surgery
Provide information: There are some forms of hd that occur in familities and that may be the case here. A full term child should pass meconium(first stool) within 48 hours. If not, baby should be evaluated for hd. In preemies, on 80% pass stool at 48hours so it may be less likely. Also, rarely to preemies have hd-unkonwn why. However, you must tell your doc about this history so he/she can consider this if issues a.
Answered on Mar 15, 2014
3
3 thanks
Dr. Gerald Mandell
51 years experience Nuclear Medicine
Aware bowel function: Should make sure pediatrician is aware of familial disease to evaluate infants and young children for possibility of Hirschsprung disease.Be cognizant of constipation and abnormal bowel habits and blood in bowel movements.
Answered on Dec 8, 2014

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Related questions:

A 31-year-old member asked:
Dr. Christopher Abel
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Very: Hirschsprung’s disease is the lack of nerves to the lower portion of bowel. Without these nerves the bowel cannot contract for normal bowel movement ... Read More
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A 33-year-old member asked:
Dr. Janet Meller
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Congenital anomaly: Hirschsprung disease is a congenital anomaly of the large intestine that results in difficulty passing stool. It is treated with an operation.
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A 42-year-old member asked:
Dr. Troy Reyna
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Constipation: Hirschsprung's is being born with lack of certain nerves(nerves that cause relaxation) in the intestine. When these nerves are missing the affected po ... Read More
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A 32-year-old male asked:
Dr. Pierrette Mimi Poinsett
37 years experience Pediatrics
Hirschsprung disease: affects the colon- missing ganglion or nerve cells- colon unable to function properly resulting in severe constipation.

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