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. Excessive excretion of bronchial glands causes chronic respiratory infection. Diagnosis is by detecting increased concentration of salt in the sweat.

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.

continue reading Diarrhea in Children With Rare Genetic Disorders – Treatment

What is Hereditary Fructose Intolerance (HFI)?

Hereditary fructose intolerance (HFI) is a rare genetic disease in which fructose can’t be properly metabolised in the body. Affected person gets bad abdominal reaction (bloating, diarrhea, generalized malaise) after eating fructose-containing foods. HFI is an autosomal recessive disorder of fructose metabolism, due to a deficiency of fructose-1-phosphate aldolase – an enzyme, which converts fructose into glucose in the liver. Incidence of HFI is estimated at 1 / 22-58,000 (1).

HFI should be differed from fructose malabsorption.

continue reading Rare Genetic Disorders: Hereditary Fructose Intolerance (HFI)

What Is a Birthmark?

A birthmark is a persistent mark anywhere on the skin, visible at birth or shortly thereafter (in weeks) (1). It represents local accumulation of skin pigment, vessels overgrowth, or other local skin abnormality. Some birthmarks fade, partially or completely, in few years, but other persist for life and may even become more pronounced with time.

Most of birthmarks are painless and harmless, but some may cause complications, like pressure on other organs, they may be connected with congenital diseases, or, rarely, may develop into a cancer, so they allways have to be checked by a doctor.

Pigmented skin marks that are not birthmarks may be a result of trauma.

continue reading Birthmark Removal – Hemangioma, Nevus, Mole Removal

Role of non genetic factors

Before commenting on the role of genetics in obesity, one must keep in mind that only a small percentage of children carry genetic defects for obesity and the factors other than genetic play a key role in making a child obese. Unfortunately, most of the people don’t realize the bad influence of these factors and keep emphasizing upon the genetic factors responsible for childhood obesity.

One of the many none-genetic causes of obesity in childhood is the imbalance between the input energy (food) and the output energy (exercise). The children who keep on taking nutrients at irregular intervals without utilizing or consuming the input energy in some physical or mechanical work get bulky in short period of time. This fact is not confined only to younger children but is applicable to all age-groups as well. Whenever your input is greater than your output, you get over weight and vice versa.

continue reading Role of genetic and non-genetic factors in childhood obesity