Symptoms Of Genetic DisordersSymptoms Of Genetic Disorders
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Symptoms Of Genetic Disorders

Mucoviscidosis or what we call cystic fibrosis is a hereditary disease which affects the sweat glands, lungs and the digestive system. 

Genetically speaking, it is the output of an in-frame obliteration of three base duo in the DNA.  As a result, cystic fibrosis trans-membrane conductance regulator or CFTR is produced.

CTFR is an abnormal form of protein.  Its function is the transportation of the chloride ions to the epithelial cells situated in the intestinal tract and in the lungs.  CFTR is not functioning properly among cystic fibrosis patient which causes the accumulation of ions in the epithelial cells. 

Contemporary studies conducted by medical researchers have shown that the imbalance of essential fatty acid does play a vital role in cystic fibrosis.  

Cystic fibrosis symptoms typically start as early as childhood.  Abnormal viscous mucus is produced by lungs and pancreas.  This mucus then starts to develop and block the opening of the lungs and pancreas.  This mucus which is now in the lungs can be lead to the growth of bacteria which may result in chronic respiratory infection and eventually will damage the lung tissue.  Since lung is malfunctioning, pulmonary hypertension and Cor Pulmonale will eventually develop in patients having cystic fibrosis.  Heart failure or severe infection may cause death.

Common symptom of cystic fibrosis among babies is the high salt concentration on the sweat which could be diagnosed as well by genetic testing.  People having this may also have digestion problems specifically fat digestion which may lead to malabsorption, difficulty in gaining and maintaining weight which could affect the overall health condition. 

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Symptoms Of Genetic Disorders

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Types-Of-Genetic-Disorders      Genetic disorder is a result of the wrong information sent by our chromosomes and genes.  This disorder is classified into four categories.  These are single-gene genetic disorders, multifactorial genetic disorders, chromosomal genetic disorders and mitochondrial genetic disorders. More..

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