Pancreatic Insufficiency and the Celiac Syndrome

Farber, Sidney

doi:10.1056/nejm194310282291804

Cited by 9 publications

(2 citation statements)

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“…When we track the changing definitions and explanations of what ultimately came to be called cystic fibrosis (although the term muscovidosis is still used in France) there is no straightforward path towards enlightenment. However, there are certain key steps in understanding, such as the move towards conceptualising CF as a multi‐systemic disorder (Farber, 1943), the development of the sweat test as a means of diagnosis (Gibson and Cooke 1959) and the identification of the gene (Rommens et al 1989). Professional and wider political and social contexts have shaped these processes of historical movement, from the growth of the discipline of clinical biochemistry in the 1950s and the 1960s to the huge financial and political investments in the new genetics of the 1980s.…”

Section: Introductionmentioning

confidence: 99%

Understanding genetic disease in a socio‐historical context: a case study of cystic fibrosis

Kerr

2005

Sociology Health & Illness

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In this article I present a socio-historical analysis of the definition and diagnosis of one particular genetic disease -cystic fibrosis (CF) -in an effort the better to understand its social context both before and after the advent of molecular genetics. I begin my analysis with some background on the history of CF, before moving on to consider the emergence of the notion of classic CF, the development of the sweat test, early approaches to mild or variant forms of CF, the concept of CF as a genetic disease, the concept of CF as a collection of related disorders, and developments in the understanding and diagnosis of CF which came about in the wake of molecular genetics. I highlight a range of technological, professional and patient developments and how these stimulated new research, typologies and clinical tools. I also consider how different notions of CF were mobilised, either to support or undermine a particular approach to diagnosis or treatment, and consider how the dynamic and contextual characteristics of CF were accounted for by scientists and clinicians with an interest in CF. I end by discussing the implications of my analysis for the contemporary sociology of genetics, and related studies in the sociology of medicine more generally.

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Section: Introductionmentioning

confidence: 99%

Understanding genetic disease in a socio‐historical context: a case study of cystic fibrosis

Kerr

2005

Sociology Health & Illness

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“…SidneyFarber (1903, Buffalo -1973, a professor of pathology at Harvard Medical School in Boston coined the term "mucoviscidosis" on his fi ndings observed in the autopsies of deceased patients who had what was beginning to be called cystic fi brosis. He defi ned it as a systematic illness did not affect just one organ[39].From that point on, it seemed evident that the bronchial "mucoviscidosis" had a lot to do with the pathogens in CF.A fortunate medical coincidence led to the development of new antibiotics at the end of the 1940s with the discovery of penicillin by Sir Alexander Fleming in 1929 [40]. At the time, he was working in St. Mary's Hospital in London.…”

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confidence: 99%

The History of Cystic Fibrosis

López¹

2019

Open J Pediatr Child Health

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Humans have died from CF for thousands of years, while, the fi rst clear references to the disease extend back only a few centuries. It was recorded in popular ancient folklore from Northern Europe which ensured that if you kissed a child with a salty taste, it was said to be "hexed" and would die an early death. In 1936 Professor Guido Fanconi established a relationship between celiac disease and cystic fi brosis of the pancreas and bronchiectasis and wrote about it in his work entitled "Familiar Pancreatic Cystic Fibromatosis with bronchiectasis". Studying 47 families with patients suffering from this disease, Andersen and Hodges in 1946 concluded that for families, the situation was concordant with autosomal auto recessive inheritance. Discovery of the sweat electrolyte defect in 1953 and standardization of the sweat test in 1959 allowed identifi cation of milder cases. The pillars of care established then (attention to nutrition, airway clearance, treatment of lung infection) remain today. In 1985, the gene for chromosome 7 was identifi ed and at the end of the decade it was patent that CF was caused by poor functioning of the chloride channel dependent on cAMP. This was confi rmed with the identifi cation of the gene and its protein product (CFTR) in 1989 through the positional cloning of Lap-Chee Tsui and John Riordan (Toronto) on the same number of Science together with Francis S Collins (Michigan). In 1991, it was demonstrated that the protein CFTR forms a chloride canal and that it needs ATP hydrolysis to open. This afforded new diagnostic tests, opportunities for research, and prospects for using the gene as therapy.

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