alpha-1 antitrypsin deficiency

RUNNING HEAD : Alpha-1 Anti-trypsin Deficiency

Alpha-1 Antitrypsin Deficiency : The Genetic Dis

Alpha-1 Antitrypsin Deficiency : The Genetic Dis

Introduction

Problem and its Background

Alpha-1 Antitrypsin Deficiency (AAD ) was first described in 1963 , and of the five patients identified , three were found to have severe emphysema at an early age . Subsequent studies that the deficiency was inherited , and in most of the early studies , emphysema and chronic bronchitis were common features . The deficiency was shown to be associated with a marked reduction in the ability of the plasma to inhibit the

serine proteinase trypsin , and later studies showed that this also reflected an inability of the serum to inhibit the enzyme neutrophil elastase (Pauwels , Postma , and Weiss , 2004

.446 . Human neutrophil elastase was shown to produce both emphysema and chronic bronchial disease in animal models . Emphysema can be directly inherited via a single gene defect . The genetic dis , known as alpha-1-antitrypsin deficiency , results from a defective gene transmitted by each parent equally to the affected offspring . This gene codes for the enzyme antitrypsin , which , when deficient , results in the loss of normal lung elasticity and in progressive overinflation and destruction of lung tissue . Antitrypsin deficiency is also the most common genetic cause of childhood liver disease (cirrhosis ) and the most common reason for liver transplantation in children . A family history of early onset emphysema or childhood liver disease points toward this diagnosis , which can be confirmed by DNA analysis . DNA testing can be used to detect carriers of alpha-1-antitrypsin deficiency as well as to facilitate prenatal diagnosis for a couple found to be carriers , who face a 25 percent risk of having an affected child (Millunsky , 2001 br

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Scope and Limitations

AAD is one of the rarest diagnosed conditions in our current time hence , focused study of such condition is essential . The case study involves the subject of pathological conditions linked with the condition of progression of defective genetic manifestations . Utilizing physiological and genetical approach , we shall center into the discussion of the disease causation , processes and manifestations involved . It is indeed essential to employ the principles of wellness and its components . The following shall be utilized in the overall study

To be able to determine and elaborate the actual disease processes involved , as well as the disease conditions manifested

To be able to relate genetic causalities and factors in the aspects of disease progression utilizing the domains , components , and principles of wellness

To be able to provide necessary health interventions , suggest enhancing lifestyle modifications and preventive behaviors related to the condition imposed

Purpose of the Study

The value significance of this study provides awareness to the public especially in terms of what can these contributing factors impregnate to the condition occurrence . Most likely , the degenerative character of AAD is very much rehabilitated if this awareness is enhanced through education . The study mainly expands health awareness on both AAD patients and non-patients who are greatly may or otherwise exposed in factors that contribute to its genetic occurrence . Moreover , the knowledge...