Cystic fibrosis is a genetic disorder of the secretory glands. This condition is characterized by a salty taste of the skin, and poor growth and weight gain, in spite of a healthy appetite. This life-threatening disease was first recognized as a specific disorder during the 1930s.
Cystic fibrosis (CF) is a relatively rare inherited genetic disorder, but one of the most life-threatening genetic diseases. It is associated with distressing symptoms such as excess mucus production, incessant coughing, shortness of breath, and even impotence (congenital bilateral absence of the vas deferens). Babies born with this condition suffer the onslaught of Meconium ileus. The condition is becoming increasingly common in the occident. Statistics reveals that while there is one carrier of the CF gene in every twenty people of Mediterranean descent, in Finland, the ratio is 1:80. Every year, in the United States of America, one in four thousand babies are born with the gene mutation. In contrast, the 1:15,000 African-American and 1:32,000 Asian-American ratios are more relieving.
CF is also referred to as mucovoidosis or mucoviscidosis. The genetic disorder results in the dysfunction of secretory glands, including the mucus and sweat producing glands. The condition was first documented as a specific medical condition during the 1930s. The early entries refer to the condition as ‘cystic fibrosis of the pancreas’. Interestingly, the condition is not a part of the published 1,032 pages on ‘Common Disorders and Diseases of Childhood’, published by Sir Frederick Still, in 1927. However, 18th century German and Swiss literature warned: ‘Wehe dem Kind, das beim Kuß auf die Stirn salzig schmekt, es ist verhext und muss bald sterben’. This translates as: ‘Sad is the state of the child who tastes salty when kissed, for it is a curse that confirms that the child must soon die’. These interpretations clearly indicate the early understanding and recognition of the association between CF and loss of salt from the body.
It was not until the 19th century that the condition was observed by Carl von Rokitansky as ‘a case of fetal death due to meconium peritonitis’. This observation clearly indicated a health complication of meconium ileus, that is now commonly associated with the onslaught of CF. In 1905, Karl Landsteiner described meconium ileus and documented his findings in detail. Three decades later, in 1936, Guido Fanconi established the relationship between celiac disease, bronchiectasis, and cystic fibrosis. In 1938, the ‘Cystic Fibrosis of the Pancreas and Its Relation to Celiac Disease: a Clinical and Pathological Study’ article in the American Journal of Diseases of Children, described the characteristics of the condition in detail. This publication by Dorothy Hansine Andersen described the onslaught of the condition, and correlated it with diseases of the lungs and intestines. She also hypothesized that the condition is recessive in nature, which calls for pancreatic enzyme replacement.
More than a decade later, in 1952, Paul di Sant’ Agnese recorded disorder-related abnormalities in sweat electrolytes via a sweat test. Subsequently, the sweat test was further developed over the next decade, and helped a lot in confirmation of the genetic disorder. In 1988, Francis Collins, John R. Riordan, and Lap-Chee Tsui discovered the first mutation for CF, ΔF508. It was discovered on the seventh chromosome, and the research further confirmed over a thousand different mutations that lead to the disorder. In 1989, Lap-Chee Tsui went on to probe the condition and discovered the gene responsible for CF at the Hospital for Sick Children, Toronto, Canada. Subsequent research on the disorder revealed that the microscopic mutations could only be mapped with the use of protein markers and gene-linkage. Thereafter, chromosome observation techniques such as ‘walking’ and ‘jumping’ were used to sequence the CF-causing gene.