Cystic Fibrosis

Cystic Fibrosis

Introduction

The word “Cystic Fibrosis” tends to carry strong and to some degree fearful sentiments regarding the effects this infirmity produces and also the outcome of this disease process. The ever advancing medical research has embarked great miracles and surprises in solving many mysteries and the unknown. Cystic Fibrosis being a disease of mortality and morbidity generate concerns in ever going medical studies and research throughout the globe. The trauma faced by the effected individual specially neonate (a newly born child) or an infant ( a child up to the age of one year) or even later in case of life survival is a challenge specifically for the parenthood and medical practitioners and professionals in general.

Background

Over the past two decades, since the modern conceptions of medical sciences occurred, the diseases and syndromes have been studied and researched upon by the application of many unique, advanced scientific methods and state of the art strategic techniques. The previous survival of children and adults have been quiet low and it was believed to be a myth for medicine and its associated sciences. (BMJ, 2011)

History of Understanding and Research

The historical identification of the disease can be successfully traced back to the Middle Ages and later in 18th century and beyond, when acknowledgement of salt-like taste experienced by a person when he kisses a sick child and later with the advent of more precise techniques the myth or bewitchment of Cystic Fibrosis transformed into a disease of genetic and racial links and tendencies. (Dr Louise Newson, 2013)

Discussion

Incidence

According to a study in Molecular and Genetic Diagnostics conducted in USA in the year 2011, the occurrence of Cystic Fibrosis among various populations living in USA ranges from 1 in 3900 to 1 in 2500 persons this includes the ethnic and racial demography and also depends upon the ancestry of the native Americans and Caucasians. Henceforth, mostly affected people belong to white and young inhabitants of North European countries and America. (Rohlfs, 2013)

What is Cystic Fibrosis?

As the name signifies, the term “Cystic” refers to any form of dilatation or balloon like fluid filled structures and “Fibrosis” means the over production of fibrous or scar tissues in places where they tend to cause obstruction and stasis of body secretions and viscous liquids.

Etiology

Cystic Fibrosis is mostly a life-shortening Autosomal Recessive illness. It is an inherited disease which occurs due to mutations affecting an allele located on the long-arm of chromosome 7, responsible for encoding an amino acid polypeptide CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) protein. The gene, encodes for the Chloride channel which is mandatory for electrolyte balance and regulation of salt and water across the ionic-gates of the cell membrane, becomes defective and to some degree inactive. As a result, an imbalance of sodium-chloride content occurs resulting in over secretion of abnormal quantity of mucus fluids by body glands.

Following is the illustration of Genetic susceptibility governed by the deformed gene to transmit itself from carrier parents to children and so on.

The above diagrammatic representation shows that Cystic Fibrosis is ...