Human Genetic Disorder – Cystic Fibrosis

By Wilma Adam

Cells form tissues, and these tissues collectively form organs. And organs no doubt form a Human Being. Every Cell inside its nucleus has DNA (deoxy ribonucleic acid). A Gene is a sequence of DNA.

An organism grows as a result of cell division. And when these cells divide, the genetic information is also copied. Hence we inherit qualities of our parents. However a mutation in a single gene can cause over 4000 human diseases.

Cystic Fibrosis (CF) a known disorder characterized by breathing difficulties, poor growth, sinus infections, affects the entire body and a persons well-being. It is a Human genetic disorder. Mutation in the gene (CFTR) responsible for the normal functioning of sweat, mucus and Digestive juices causes CF. Normally everyone has two such genes, while only one gene is needed to overcome Cystic Fibrosis. Common in Americans, Cystic Fibrosis is known to affect Caucasians and Ashkenazi Jews.

Cystic Fibrosis can be diagnosed before birth by the procedure of Genetic testing. Also can be diagnosed by newborn screening and sweat tasting. Symptoms of this human genetic disorder include poor growth and poor weight gain. An individual who has been affected by CF has salty tasting skin. Frequent chest congestion and infections, mucus accumulation, coughing and breathings problems are characteristic of CF. Symptoms can be seen in early childhood, such as bowel obstruction in newborn babies. Exercise is needed in a growing child, to release the mucus in the lungs.

The mucus build-up in the Lungs overtime can cause structural changes to it. Frequent coughing, increased phlegm production can reduce the capacity to exercise. When the bacteria in the thick mucus multiply, they can cause pneumonia. It can lead to coughing up blood, high blood pressure and heart failure.

The Pancreas is responsible for producing digestive juices, which help break down food in our body. Islets of Langerhans contained in the Pancreas, produce insulin. Insulin is a hormone that regulates glucose in blood. Hence any damage to the Pancreas can cause diabetes. Cystic Fibrosis related diabetes is a main complication in this disease and shares characteristics with Type-1 and Type-2 diabetes.

CF can also lead to infertility. This affects both men and women. Most of the men affected by CF are infertile. It is due to the absence of the vas deferens which connects the testes to the ejaculatory ducts of the penis. Assisted reproductive techniques can help such men in having children, as they are not sterile.

Active and a healthy lifestyle, coupled with good nourishment are proactive ways of managing this human genetic disorder. Treatment of airway infection and making the organ function to the best of its ability help in enhancing the progress of ones life. The organs targeted for therapy are the Lungs, the gastrointestinal tract and the reproductive organs.

Oral antibiotics are used to treat major as well as acute infections. Priority is to limit lung damage due to thick mucus and infection. Leading a normal life and incorporating all the therapies and prescribed treatments is a challenge for a person affected by CF.

Summary: mutation in genes causes human genetic disorders. An example of genetic disorder is cystic fibrosis. It causes mucus accumulation in lungs, sinus infections. Lungs, Pancreas, reproductive organs are affected. Can lead to heart failure and infertility.

There are many Human Genetic disorder on which our blog Disordercentral covers Central disorder of human body and also have body disorder details.

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