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Cystic fibrosis (also known as CF or mucoviscidosis) is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine.
Dorothy Hansine Andersen (May 15, 1901 – March 3, 1963) was the American physician and researcher who first identified and named cystic fibrosis.During her almost thirty year tenure at Babies Hospital of Columbia-Presbyterian Medical Center (now Morgan Stanley Children's Hospital), Andersen not only identified CF and its inheritance through a recessive gene, she was also at the forefront of ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Not all heterozygotes for recessive lethal alleles will show a mutant phenotype, as is the case for cystic fibrosis carriers. If two cystic fibrosis carriers have children, they have a 25 percent chance of producing offspring having two copies of the allele, eventually resulting in the death of the child without intensive treatment. [9]
The term childhood disease refers to disease that is contracted or becomes symptomatic before the age of 18 or 21 years old. Many of these diseases can also be contracted by adults. Some childhood diseases include:
Due to the wide range of genetic disorders that are known, diagnosis is widely varied and dependent of the disorder. Most genetic disorders are diagnosed pre-birth, at birth, or during early childhood however some, such as Huntington's disease, can escape detection until the patient begins exhibiting symptoms well into adulthood. [35]
Childhood chronic illnesses are common among school-aged children in the United States, and these illnesses often require management within school settings for a child to safely attend. [30] At any stage, children with chronic illness can have reduced quality of life , especially if the children or their families are of low socioeconomic status .
Early diagnosis makes possible the readiness of therapeutic dietary information, enzyme replacement therapy and organ transplants. [101] Different countries support the screening for a number of metabolic disorders (inborn errors of metabolism (IEM)), and genetic disorders including cystic fibrosis and Duchenne muscular dystrophy.