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The Basics: CF not just a Lung Disease
CF was first defined in 1937 as a cystic disease of the mucous membranes of the lungs, intestines and pancreas. Before that there was recognised a ‘Salty Baby Syndrome’ in which babies with salty sweat failed to thrive. Over the years understanding has improved and in 1989 the genetic cause was shown to be a faulty CFTR gene. This provided further understanding of the lung and bowel disease due to poor hydration of mucous. The CFTR gene is enormous with by now over 2000 variants or mutations known of which some cause severe disease but others mild or even no illness.
Concentration has been on the organs most severely affected the lungs and intestines and on how the absence or dysfuncfion of the CFTR on the passage of Chloride accross the epithelial cell wall leaves mucous dehydrated and thickened. Thickened mucous blocks small airways, pancreatic ducts, and even the ducts transporting sperm. It affects the function and absorption of and in the intestines.
But is that all?
CF affected persons present with a multitude of issues on top of lung disease. Endocrinopathies and heart disease are well reported. It is apparent that epithelial cells secreting mucous are not the only cells affected. Vasculitis is commonly reported in CF affected persons as are cardiomyopathies and hypokalaemia (Low blood Potassium).
It is reasonable to postulate that the faulty CFTR affects Chloride transport not just in the epithelial cells of lungs and skin but such failure may be expected to leave high Chloride (an anion) within the cells that is balanced by increased levels of cations (Potassium and Calcium being the most important). These cations are important in cardiac and other muscle function, Adrenal function, the parathyroids (affect calcium metabolism and the bones (Ostepaenia/perosis)).
While not neglecting the need for further progress in treating and preventing lung disease there needs to be much research in these ‘other’ problems that Cf affected persons face. -
1 Reply
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I fully agree with you. We should always have a holistic approach in stead of only focus on the most obvious. The body is one whole unit, with inseparable features, not separate organs. In a way it is unfortunate that most cf patients end up with a lung physician as they grow up, while as a child they had the advantage of a broad viewing pediatrician. I still look at this transition as a loss. This is even more unfortunate given the poor cooperation between medical specialists in most hospitals, even in so called cf centres.
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