Diarrhea in Children (genetic disorders) and Treatment

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Hirschsprung’s Disease or Megacolon: Hirschsprung’s disease occurs to newborn baby boys where the intestines don’t work properly due to obstruction and it can be a life threatening one. While going through various resources i came across that Hirschsprung’s Disease occurs in children who suffer from Down Syndrome.

Symptoms of Hirschsprung’s disease:

Newborn babies are unable to pass on stool 24-48 hours after birth.
They are unable to eat and vomiting occurs.
In infants diarrhea, vomiting and constipation can also be there.
Infants are unable to put on weight and hence, mostly underwent.
Older kids can be anemic and can lack proper nourishment.
Can be constipated.

Diagnosis and Treatment:

To diagnose Hirschsprung’s Disease biopsy is done and treatment is done by doing a surgery where the affected part of the colon is removed.

Cystic Fibrosis:

Cystic Fibrosis is a hereditary disease which affects the mucus membrane. Cystic Fibrosis leads to symptoms such as respiratory and digestive problems such as diarrhea. According to the studies Cystic Fibrosis is hereditary disease which occurs to the White population in US. People who have Cystic Fibrosis have blocked pancreatic duct due to mucus and hence the digestive enzymes don’t reach intestines and the digestive problems can lead to diarrhea, even weightloss.Cystic Fibrosis is considered as a life threatening disease for infants.

: Cystic Fibrosis is a hereditary disease which affects the mucus membrane. Cystic Fibrosis leads to symptoms such as respiratory and digestive problems such as diarrhea. According to the studies Cystic Fibrosis is hereditary disease which occurs to the White population in US. People who have Cystic Fibrosis have blocked pancreatic duct due to mucus and hence the digestive enzymes don’t reach intestines and the digestive problems can lead to diarrhea, even weightloss.Cystic Fibrosis is considered as a life threatening disease for infants.

Diagnosis of Cystic Fibrosis is done by performing sweat testing or new born testing and chest X-ray.

Treatment of Cystic Fibrosis depends upon the condition of the infant. A high calorie diet is advisable for the infants and they can also be given pancreatic enzymes oral doses to help them to digest food in a better way. According to a new research kids are given to inhale spray which contains Cystic Fibrosis gene. A new treatment was developed in the year 1993 in which patients were treated with gene therapy of Cystic Fibrosis.

Hereditary Fructose Intolerance:

Hereditary Fructose Intolerance as the name suggests is a hereditary disease where the protein which breaks down Fructose is not present in the body. It is a quite common disease in few European countries. According to the research if both the parents are not tolerant to Fructose then there is 25% of chance that the children will be affected with the same.

Symptoms that can be seen in babies are vomiting, jaundice; the baby may show some reactions after consuming food items containing Fructose.

Diagnosis is done by doing genetic testing and enzymes tests.
There is no cure for Hereditary Fructose Intolerance however such patients should avoid taking fructose from their diet.

Related tags

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