The History of Cystic Fibrosis by Dr James Littlewood OBE

Edited and produced by Daniel Peckham


Acetylcholinesterase - breaks down acetylcholine the neurotransmitter at parasympathetic nerve junctions
Achylia - absence of secretion
Acinar tissue - small sac or cavity surrounded by secretory cells of a gland
Adeno-associated virus - a small virus which infects humans and some other primate species. AAV is not currently known to cause disease and consequently the virus causes a very mild immune response.
Adenosine triphosphate - (ATP) a compound containing adenine, ribose and three phosphate groups which stores energy in the cells for when needed
Adenovirus - a virus used in modified form to transport genetic material into living cells
Aerosol - suspension of very small liquid or solid particles
Aetiology/etiology - the cause of a disease
Agenesis - absence of an organ usually due to failure of development

Airirway surface liquid (ASL) - a thin film of liquid that lines the airways

Alelectasis - failure of part of the lung to expand
Alpha 1 antitrypsin - a protein produced in the liver that inhibits trypsin
Alveoli - the smallest air sacs in the lungs
Amiloride - diuretic that causes increased excretion of sodium and chloride
Aminoglycosides - group of antibiotics widely used in CF as active against P. aeruginosa and other bacteria
Amylase - an enzyme in saliva and pancreas that breaks down starch
Anabolic steroids - synthetic male sex hormones that promote weight gain
Antibiotic - a substance derived from microorganisms that destroys or inhibits the growth of other microorganisms
Antigen - substance against which the body produces antibodies

Antioxidant - a chemical that reduces oxidation and damage within tissues
Aspergillosis - infection by the fungus Aspergillus fumigatus
Atheroma - degeneration of the walls of the arteries
Atretic - congenital absence or narrowing of a body opening such as bile duct or pancreatic duct
Aureomycin - (chlortetracycline) one of the first wide spectrum antibiotics
Autonomic nerves - nerves involved in involuntary functions of the body
Autopsy - (also necropsy, post mortem) dissection and examination of the body after death

Autophagy - A normal process in cell develpment involving breakdown of cellular material

Azithromycin - a macrolide antibiotic which benefits patients with chronic P. aeruginosa infection possibly for immunological reasons
Bacteriology - the science of studying bacteria; a branch of microbiology
Bile acids/salts - present in bile for the emulsification of fats in the bowel
Biliary atresia - congential maldevelopment of the bile duct

Biofilm - A community of microorganisms attached to a solid surface
Bronchial lability - tendency for the bronchial tubes to vary their calibre as in asthma
Bronchiectasis - a widening of the bronchi usually due to damage by infection
Bronchiolectasis - a widening of the bronchioles – the small airways that do not contain cartilage
Bronchorrhoea - excess secretion into the airways
Bronchoscopy - examination of the trachea and bronchial tree with either a metal or fibreoptic instrument
Bronchospasm - constriction and narrowing of the airways due to muscular contraction

Burkholderia cepacia complex - bacteria found in soil and other items such as rotten onions. Organisms in the group (e.g. Burkholderia cenocepacia) may cause serious illness in people with CF
Cachexia - abnormal weight loss and weakness associated with serious illness
Candida albicans - a fungus
Capillary - an extremely narrow blood vessel
Carotene - a yellow pigment that can be converted into vitamin A
Casein - a milk protein
Choroid plexus - a plexus of blood vessels within the brain
Chylomicrons - microscopic particles of fat
Chymotrypsin - an gastrointestinal enzyme that digest protein
Cilia - microscopic hairs on the surface of cells ling the airways
Cimetidine - drug used to reduce stomach acid
Cirrhosis - fibrous change in the liver in response to various injuries such as infection, alcohol or obstruction of bile flow
Cochrane Collaboration - International not-for-profit organisation preparing, maintaining and promoting the accessibility of systematic reviews of the effects of health care.
Coeliac disease - malabsorption of food due to damage to the lining of the small intestine caused by foods containing gluten
Colistin - an antibiotic active against P. aeruginosa
Colonisation - when applied to bacteria indicates presence of organism in or on an individual but not yet invading the tissues or causing illness
Compressor - electric pump used to power nebuliser for delivery of aerosolised drugs
Congenital - present from birth
Cor pulmonale - failure of the right side of the heart

Corrector molecules - small molecules that rescue misfolded CFTR (e.g.dF508) and transport it to the cell surface
Cornea - the transparent front of the eyeball
Creatinuria - an excess of the nitrogenous product creatine in the urine

Cystic fibrosis conductance regulator (CFTR) -A gene that encodes for a protein called CFTR that is a chloride channel found in the membrane of airway cells; also involved in the regulation of water and other ions
Dehydration - deficiency of water in the body tissues
Deoxyribonuclease - enzyme that splits deoxyribonucleic acid
Deoxyribonucleic acid - genetic material of nearly all living organisms
Desquamate - loss of the outer layer of the skin
Diabetes mellitus - disorder where sugars cannot be utilised due lack of the hormone insulin which is produced by the islets of Langerhans in the pancreas
Disaccharidases - enzymes in the intestinal cells that digests sugars
Diuretic - drug that increases the production of urine
Domino transplantation- the heart of the CF recipient of a heart-lung transplant is donated to another patient who requires a heart transplant
Duodenum - the first part of the upper small bowel into which the pancreatic and bile ducts enter
Dyskinesia - interference with normal movement
Eccrine - describing sweat glands distributed all over the body
Elastin - protein forming elastic tissue fibres
ELISA - ‘enzyme linked immunosorbent assay’ – a sensitive method for measuring very small amounts of a substance (ELISA test)
Emphysema - air in the tissues (surgical emphysema). In the lungs the air sacs are enlarged due to obstruction of the airways (pulmonary emphysema)
Enzyme - a protein that in small quantities speeds up biological reactions
Eosinophil - a white blood cell often associated with allergies
Epinephrine - drug which causes relief of bronchial spasm (asthma)
Epithelium - outer layer of body tissues and lining of hollow structures

Exacerbation - an increase in severity of a condition usually used to imply a worsening of the state of the chest in CF.A Reductionin the number of exacerbations is increasingly used as a measure of success of a particular treatment.
Exocrine - gland that discharges to the exterior by means of a duct
Faecal fat - fat which is present in the faeces - normally less than 5 gm per day in adults
Faecal pancreatic elastase 1 - pancreatic elastase-1 is a specific human protease synthesised by the acinar cells of the pancreas; faecal values used to determine pancreatic function
Faeces/feces - waste material that is eliminated via the anus
Fatty acids - fundamental constituents of many important lipids. Fat contains two or more fatty acids
Faecal caloprotectin - a calcium-binding protein that is a sensitive but non-specific marker of intestinal inflammation
Ferritin - a complex of a protein and iron
Fibroblasts - a cell in connective tissue
Fibromatosis - presence of fibrous tissue in an organ
Fludrocortisone - a steroid affecting mineral metabolism

Gene - a piece of DNA that contains all the necessary information for synthesis of a protien
Genome - the total genetic material of the organism
Genotype - genetic constitution up of an individual
Gestation - the period between fertilisation of an egg and birth
Glucagon - hormone produced by the pancreas that causes an increase in blood sugar
Glutathione - a peptide containing the amino acids glutamic acid, cysteine and glycine
Gluten - component of wheat that causes coeliac disease
Glycogen - a carbohydrate consisting of glucose units
Glycosuria - the presence of glucose in the urine
Goitre - enlargement of the thyroid gland
Guanethidine - a drug used to treat high blood pressure
Haemolysis - a break down of the red blood corpuscles causing anaemia
Haemolytic disease - a disease associated with haemolysis
Haemoptysis - the coughing up of blood
Heterozygote - a healthy person carrying one abnormal gene i.e. a “carrier” of an inherited condition such as cystic fibrosis
Heubner-Herter disease - an old description of wasting and intestinal malabsorption in young children
Histology - examination of tissue under the microscope
Homozygote - a person with two copies of an abnormal gene i.e. a person with cystic fibrosis
Hydrolase - an enzyme that hydrolyses or breaks down protein to a hydrolysate
Hyperpyrexia - an excessively high body temperature above 106º C
Hypertrophic pulmonary osteoarthropathy - swelling and new bony tissues in people with chronic chest disorders
Hypoglycaemia - an abnormally low level of glucose in the blood
Hypogonadism - impaired function of the testes or ovaries causing absence or impairment of the secondary sex characteristics
Hypoproteinaemia - a low level of protein in the blood
Hypothyroidism - a condition caused by inadequate thyroid hormone
Ibuprofen - non-steroidal anti-inflammatory drug used in CF to suppress lung inflammation
Idiopathic - without identifiable cause
Ileostomy - a surgically-created hole between the ileum (lower small intestine) and the exterior
Ileum - the lower part of the small intestine
Immunoelectrophoresis - a technique for identifying antigenic fractions in a serum
Immunoglobulins - a group of proteins that act as antibodies
Indomethacin - a non-steroidal anti-inflammatory drug
Infantilism - persistence of childlike characteristics into adult life

Inflammation - A protective response after injury or destruction of tissue
Inspissated - dried and hardened
Intracranial hypertension - increase in pressure within the skull
Intubation - insertion of a tube into the airways
Intussusception - the telescoping of one part of the bowel into another lower part

Ion - An atom or radical a charge of positive or negative elctricity resulting from loss or gain of one or more electrons
Iontophoresis - technique of introducing through the skin by means of a small electric current charged particles of a drug e.g. pilocarpine to stimulate sweating for the sweat test.
Isles of Langerhans - small islands of tissue in the pancreas that secrete insulin
Isoelectric focussing - a technique of separating different molecules by their electric charge difference
Isotope - different forms of an element. Radioactive isotopes are other forms of the element emitting radioactivity which can be measured
Jejunal biopsy - obtaining tiny pieces of the lining of the upper bowel, to examine by microscope, using either a small biopsy capsule or the fibreoptic endoscope
Kasai operation - joining of the small bowel to the cut underside of the liver to treat congenital atresia of the bile ducts
Keratinisation - cells become hard due to the deposition of keratin
Keratomalacia - progressive nutritional disease of the cornea of the eye due to lack of vitamin A
Kwashiorkor - a form of malnutrition due to a diet deficient in protein and energy producing foods
Kyphosis - a forward curvature of the spine
Laparotomy - a surgical incision into the abdominal cavity
Lectin - sugar-binding proteins which are highly specific for their sugar moieties.
Leukocyte - white blood cell
Linoleic acid - an essential fatty acid
Lipase - enzyme that digests fat
Liposomes - a microscopic vesicle made in the laboratory by addition of an aqueous solution to a phospholipid gel. Used to transport genetic material into cells
Macrolides - a family of antibiotics including erythromycin and azithromycin

macrophage - a large immune cell that protects the tissues
Macula - sensitive area at the back of the eye
Malabsorption - failure to absorb – usually in reference to the contents of the bowel - “intestinal malabsorption”
Marasmus - severe wasting in infancy

Mast cells - Immune cells that release histamine as part of an immune response
Meconium - first content of the bowel passed by a newborn infant

Meconium ileus - intestinal obstruction in a newborn with CF due to inspissated meconium
Medline - an electronic source of most medical and scientific references - contains over 30,000 references to CF
Melioidosis - a disease of wild rodents transmissible to man and causing often fatal septicaemia, pneumonia and abscesses
Mendel - Gregor Mendel, a Moravian monk, who showed that many body characteristics were inherited by genes
Metaplasia - abnormal change in the nature of a tissue
Microbiologist - person who studies microorganisms
Monotherapy - using only one drug when two is an option
Mucolytic - a substance or technique that makes mucus less viscous
Mucopolysaccharides - complex carbohydrates found in connective tissue
Mucoviscidosis - term for CF used by a pathologist, Sydney Farber, to indicate that CF involved abnormal secretions in many organs

Mucus - a slimy substance secreted by mucous membranes. Mucous - relating to mucus

Mutation - an inhertiable change in DNA sequence
Mycobacterium - bacterium of the same group as that causing tuberculosis. Atypical mycobacteria are frequently cultured from the airways of people with CF
N-acetylcysteine - a drug used to breakdown thick mucus; also a source of glutathione
Nasal potential difference - electrical potential across the lining of the nose or airways; is abnormal in people with CF
Nebuliser - an instrument used for supplying a liquid in the form of a fine mist usually for inhalation
Necropsy - autopsy or post mortem
Necrosis - loss of function and death of cells
Nephrolithiasis - stones in the kidney

Neutrophils - the most abundant form of white blood cell
Nonsense mutation - a point mutation in a sequence of DNA that results in a premature stop codon, or a nonsense codon, in the transcribed mRNA, and so in a truncated, incomplete, and usually nonfunctional protein product
Nursling - a baby that is being breast fed
Occidental - relating to the countries of the west
Oedema/edema - excessive accumulation of fluid in the tissues
Oesophageal pH tracings - recording of the acidity at the lower end of the food pipe using a fine probe to determine the presence of acid reflux
Optic neuritis - inflammation of the optic nerve causing impaired vision
Organelles - structures within a cell which have special function e.g. the nucleus
Osmolality - concentration of a solution expressed as the total number of solute particles per kilogram
Osmolarity - concentration of a solution expressed as the number of solute particles per litre
Osteoporosis - loss of bony tissue resulting in brittle bones
Ototoxic - damaging to the hearing
Paediatrician/Pediatrician - doctor who specialises in diseases of children
Pancreas - a gland that lies behind the stomach that secretes bicarbonate and digestive enzymes into the upper bowel and insulin into the blood
Pancrease - the first acid-resistant microsphere preparation of digestive enzymes for enzyme replacement therapy
Pancreatic sufficient - person with sufficient remaining pancreatic function to achieve normal fat absorption
Pancreozymin - enzyme that stimulates pancreas to secrete
Parenchyma - tissue of an organ

Pathogen - a microbe that causes disease
Pathogenesis - cause of a condition
Peptide - a molecule containing two or more amino acids
Pericardium - membrane covering the heart
Peristalsis - rhythmical movement of the bowel or hollow organ to propel the contents forward
Peritonitis - inflammation of the coverings of the abdominal contents
Pertussis - whooping cough
Pharmokinetics - the handling of a drug within the body
Phenotype - observable characteristics of an individual resulting from the interaction of its genotype with the environment
Phimosis - excessive tightness of the penile foreskin
Physiologist - scientist who studies the function of the body
Plasmid - a genetic structure in the cell that can replicate independently of the chromosomes – typically a small circular strand of DNA – used in the manipulation of genes
Pneumonectomy - surgical removal of a lung
Pneumothorax - abnormal presence of air in the chest cavity between the chest wall and the lung surface
Polymorphic - a condition in which a chromosome or a genetic character occurs in more than one form
Polyp - a growth usually benign protruding from a mucous membrane - such as the lining of the nose or bowel
Portal hypertension - increased back pressure in the veins leading to the liver due to liver damage

Potentiator - small molecules that improve the activity of CFTR in the cell memberane
Precipitin - any antibody that combines with an antigen
Preimplantation genetic diagnosis - a single cell, removed from the developing embryo at the 6-10 cell stage, is examined for genetic abnormalities
Prostaglandins - hormone-like substance present in many tissues and body fluids
Proteolytic - digests protein
Pseudomonas aeruginosa - a major cause of chronic chest infection in CF
PubMed - a major database of medical and scientific publications
Pulsed field gel electrophoresis - used to separate fragments of DNA using timed current from two angles to minimise diffusion of molecules
Purpura - a rash due to bleeding into the skin
Recombinant - rearranged referring to genetic material
Restriction enzyme - obtained from bacteria that cuts DNA into specific short segments
Rheology - study of the deformation and flow of matter – in CF particularly relating to sputum
Rickets - a disease of bones due to shortage of vitamin D
Right iliac fossa - lower right part of the abdomen
Roentgen - X-rays
Sclerosis - hardening
Scoliosis - a lateral curvature of the spine
Seborrhoea - greasy skin due to excessive secretion of the sebaceous glands
Secretin - a hormone that stimulates pancreatic secretion
Shwachman-Diamond syndrome- a condition with pancreatic malabsorption and blood abnormalities
Situs invertus - major organs on the wrong side of the body
Spermatogenesis - the production of sperms
Spirometer - an instrument for measuring the amount of air inhaled and exhaled
Squamous - relating to the skin
Staphylococcus aureus - common germ that infects airways of people with CF
Steatorrhoea - presence of excessive fat in the stools
Steatosis - infiltration of the liver cells with fat
Stem cells - a cell which is able to produce many other different types of cell
Stoma - an opening into a hollow organ
Stool - a portion of waste passed from the anus
Subdural bleed - bleeding below the dura mater – the outermost covering of the brain
Substrate - substance that an enzyme digests
Sudan - a dye used to stain tissues for examination
Sulphonamides - anti-bacterial drugs
Terramycin - antibiotic
Tertiary referral service - a specialist service to which other hospital consultants refer patients
Thrombus/thrombi - clot/s of blood in blood vessels
Tolbutamide - an oral drug that lowers the blood glucose level
Trachea - main wind pipe
Trypsin - pancreatic enzyme that digests protein
Unique strain - when applied to Pseudomonas indicates a strain only found in that patient – presumably not acquired from another patient
Ursodeoxycholic acid - drug used to dissolve cholesterol gall stones and improve liver function in CF
Vas deferens - tube that carries sperm from the testis to the penis
Villus/villi - short finger-like processes which project from some membranous surfaces such as the small intestine. Villous - adjective used to describe a condition affecting the villi e.g. villous atrophy
Virilisation - developing male characteristic
Viscous - thick and sticky
Viscus - an organ
Vitalograph - a simple respiratory function machine initially a bellows design and later a more compact electronic model; measures the main features of the respiratory function – the FVC (forced vital capacity), the FEV1 (amount of air expelled in one second), the FEF 25-75 (the air expelled in the middle of the “blow”)
Wirsung’s duct - the main duct from the pancreas to the upper intestine
Xerosis - abnormal dryness of the cornea of the eye