Pediatric Genetic Diseases

Pediatric genetic diseases devastate the lives of numerous children worldwide each year. While there are tests for some disorders that serve as a pre-screening before a couple conceives a child, many still go undetected until it appears in the youngster at some point early on in life. This article aims to explain pediatric genetic diseases, as well as touching on a few that are most prominent in childhood illnesses today.

Causes of Pediatric Genetic Disease

• Every single disease has some sort of genetic component. Cancer, for example, is caused by the mutation of genes found within a human body. Sometimes the mutations are caused by unhealthy behavior such as smoking or exposing oneself to chemicals, while other mutations are simply random and unpreventable.

  Still others can be inherited, which means that the faulty gene is passed down from parent to child, sometimes causing a child to become very ill with a disorder or disease. This is what is known as a pediatric genetic disorder, which is generally defined as a disease caused at least partially by a variation or mutation of a child's gene.

Single-Gene Disorders

• There are three distinct categories of pediatric genetic diseases. The first is called "single gene disorders." These take place when just one gene is mutated and is caused by chromosomes from both parents. Cystic fibrosis, a fatal illness where the body produces an excess of mucus, requires both parents to be carriers in order for a child to receive the mutated gene. Sickle cell disease is another example of single gene disorders.

Chromosome Disorders

• A secondary genre, "chromosome disorders", happen when there is either an excess or lack of a gene. This affects the structure of chromosomes and results in diseases such as Down syndrome, for example. In Down syndrome, the body contains an extra chromosome, which causes the issue.

Multifactorial Inheritance Disorders

• Multifactorial inheritance disorders take place when there is a variation within the genetics of a person. This happens in conjunction with environmental factors, such as childhood obesity. Fortunately, this category can often be corrected or avoided by proper health and precautions.

Cystic Fibrosis

• Cystic fibrosis is one of the most prominent life-shortening pediatric genetic diseases. A child is often diagnosed with this disease of the glands that produce sweat and mucus, and symptoms include failure to thrive, excessive and persistent coughing and/or wheezing, and an abnormally large amount of mucus production. While still a very fatal disease, the life expectancy of a CF patient has now extended into adulthood in some cases. Many children with cystic fibrosis still die before adulthood, however.

Sickle Cell Disease

• Sickle cell disease is a blood disorder where the red blood cells take on an abnormally sharp and "sickled" shape. This causes a lot of complications including a shortened life span. Again, this illness is often diagnosed during infancy or childhood, and affects mostly African-American children. With proper treatment, most patients can live into their mid-forties and some well beyond, however some children die from the disease.

Pre-Screening

• Many genetic diseases can be pre-screened so parents are aware whether or not they are carriers. If both are carriers, they can make an educated decision as to whether or not to conceive a child.

  Other disorders, such as Down syndrome, can be diagnosed in a fetus through amniocentesis after a standard blood screening during the first trimester in pregnancy. Parents can use this screening to properly educate and prepare themselves before the birth of their special needs child.