Diarrhea in Children With Rare Genetic Disorders – Treatment

Cystic Fibrosis (Mucoviscidosis)

Cystic fibrosis (mucoviscidosis) is a recessive genetic disorder in which viscous mucus is excreted from bronchial glands, pancreas, sweat and salivary glands. Cysts and fibrosis in the pancreas affect its enzyme excretion resulting in fat malabsorption and leading to mucous, fatty diarrhea or, sometimes, constipation. Excessive excretion of bronchial glands causes chronic respiratory infection. Diagnosis is by detecting increased concentration of salt in the sweat.

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For affected infants, breastfeeding is recommended; a dietitian should advise about diet for other children. Supportive treatment is through antibiotics, mucus thinning drugs, enzyme and nutrient supplements. Affected persons can expect to live until their 30-40th year of age; a common cause of death is respiratory failure. If both parents carry the defective gene, 25% of children stand a chance of developing the disease, 50% of them will likely be carriers with one defective gene and no symptoms and 25%  of them will likely have no defective gene.



Hirschsprung’s Disease or Megacolon

Hirschsprung’s disease or megacolon is an inborn defect of the nerves within the colonic wall resulting in impaired colonic motility. In newborns, the disease is present as constipation; in older children diarrhea may predominate. Sometimes the disease appears only later in adulthood.

Diagnosis is by X-ray of the colon with barium enema, and rectal biopsy. In most cases, surgical removal of affected part of the colon is needed.

Hereditary Fructose Intolerance (HFI)

Hereditary fructose intolerance (HFI) is a recessive autosomal genetic disorder in which fructose can not be properly used by the body. Affected person experience bloating, diarrhea, generalized malaise after eating fructose-containing foods, like fruits and other food products containing fructose or sorbitol.

There is no known treatment for HFI. With total (long-life) fructose/sorbitol free diet, symptoms disappear completely.

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