Civilización China

Genetic Diseases
Genetic diseases happened all around the world; maybe some people know them or most of them not! All kind of genetic diseases may appear from newborns or they may appear after your whole life. Some people who have any disease mostly of the time are a heritage from their parents. As some other people they got the disease later on in life. Pachyonychia Congenita: disease whichaffects the skin. Cystic Fibrosis: disease which affects the lungs, pancreas, liver and intestine. Galactosemia: disease which affects the ability to metabolize the sugar galactose properly. Hypothyroidism: disease which affects the thyroid gland. Williams Syndrome: neurodevelopmental disease which affects all the facial appearance, language skills, and cardiovascular problems. These five specialdiseases have many different characteristics such as symptoms, causes, pathophysiology, diagnosis, epidemiology, and treatments; all is explained next.
Pachyonychia Congenita
Pachyonychia Congenita is a rare genetic skin disorder that causes blister and calluses on the feet, thickened nails, cysts and other painful conditions. Some common symptoms are excess of keratin in nail beds and thickeningof the nails, hyperkeratosis on hands and feet, oral lesions that look like thick white plaques, pain, and blisters. The main cause of this disease is an autosomal dominant pattern of inheritance, only one parent gene is necessary to inherit the disorder. The pathophysiology is caused by genetic mutations in one of four genes that encode keratin proteins. PC is diagnosed by clinical findings andby molecular genetic testing of four keratin genes (KRT6A, KRT6B, KRT16, and KRT17) in which mutations are known to cause PC is clinically available. PC epidemiology estimated 5,000-10,000 cases have been reported worldwide; is not associated with a reduced lifespan. It affects both sexes equally. There’s no specific treatment or cure for PC, therapy is generally the most specific pain control.Cystic Fibrosis
Cystic fibrosis is an autosomal recessive genetic disorder affecting mostly the lungs and also the pancreas, liver, and intestine. It is characterized by abnormal transport of chloride and sodium across an epithelium, leading to thick, viscous secretions. Some symptoms are salty tasting skin, poor growth, poor weight gain, accumulation of thick, sticky mucus, frequent chestinfections, and males tend to be infertile. CF is caused by a mutation in the gene cystic fibrosis trans-membrane conductance regulator. The common mutation is a deletion of three nucleotides that results in the loss of the amino acid phenylalanine. The pathophysiology is several mutations in the CFTR gene, and different mutations cause different defects in that protein, sometimes causing a milder ormore severe disease. CF may be diagnosed by many different methods including newborn screening, sweat testing, and genetic testing. Epidemiology: CF is the most common life-limiting autosomal recessive disease among people of Caucasian heritage. The only treatment to prevent or cure it would be with gene therapy at an early age.
Galactosemia
Galactosemia is a rare genetic metabolic disorder thataffects an individual’s ability to metabolize the sugar galactose properly. Galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galactose degradation. Symptoms typically present lethargy, vomiting, diarrhea, failure to thrive, and jaundice. Galactosemia is caused by inheritance defective gene from each parent. Diagnosis ismade while the person is still an infant. Epidemiology: most patients appear to reach adulthood following institution of a galactose-restricted diet. The only treatment for classic Galactosemia is eliminating lactose and galactose from the diet.
Hypothyroidism
Hypothyroidism is a state in which the thyroid gland does not make enough thyroid hormone. Some symptoms are: cold intolerance,...