Nephrogenic Systemic Fibrosis: From 1 Different Sources
(NSF, nephrogenic fibrosing dermopathy) a rare condition, first reported in 1997, that occurs exclusively in patients with chronic kidney disease (CKD), who develop large areas of hardened skin with fibrotic nodules and plaques. Flexion contractures with an accompanying limitation of range of motion can also occur. Exposure to gadolinium, used as a contrast agent in magnetic resonance imaging, has been identified as a causative factor, but many patients with severe CKD have been exposed to gadolinium without consequence. Linear gadolinium preparations (Omniscan, OptiMARK) appear to carry the highest risk of NSF. There is no cure for the condition.
This is the most common serious genetic disease in Caucasian children, with an incidence of about one per 2,500 births, and more than 6,000 patients in the UK (30,000 in the USA). It is an autosomal recessive disorder of the mucus-secreting glands of the lungs, the pancreas, the mouth, and the gastrointestinal tract, as well as the sweat glands of the skin. The defective gene is sited on chromosome 7 which encodes for a protein, cystic ?brosis transmembrane conductance regulator (CFTR). Individuals who inherit the gene only on one set of chromosomes can, however, carry the defect into successive generations. Where parents have a child with cystic ?brosis, they have a one-infour chance of subsequent children having the disease. They should seek GENETIC COUNSELLING.
The disorder is characterised by failure to gain weight in spite of a good appetite, by repeated attacks of bronchitis (with BRONCHIECTASIS developing at a young age), and by the passage of loose, foul-smelling and slimy stools (faeces). AMNIOCENTESIS, which yields amniotic ?uid along with cells shed from the fetus’s skin, can be used to diagnose cystic ?brosis prenatally. The levels of various enzymes can be measured in the ?uid and are abnormal when the fetus is affected by cystic ?brosis. Neonatal screening is possible using a test on blood spots – immunoreactive trypsin (IRT).
In children with symptoms or a positive family history, the disease can be tested for by measuring sweat chloride and sodium. This detects the abnormal amount of salt that is excreted via the sweat glands when cystic ?brosis is present. Con?rmation is by genetic testing.
Treatment This consists basically of regular physiotherapy and postural drainage, antibiotics and the taking of pancreatic enzyme tablets and vitamins. Some children need STEROID treatment and all require nutritional support. The earlier treatment is started, the better the results. Whereas two decades ago, only 12 per cent of affected children survived beyond adolescence, today 75 per cent survive into adult life, and an increasing number are surviving into their 40s. Patients with end-stage disease can be treated by heart-lung transplantation (with their own heart going to another recipient). Research is underway on the possible use of GENE THERAPY to control the disorder. Parents of children with cystic ?brosis, seeking help and advice, can obtain this from the Cystic Fibrosis Trust.... cystic fibrosis
Involving the whole body or organism, and not just individual parts.... systemic
The formation of ?brous or scar tissue, which is usually due to infection, injury or surgical operation.... fibrosis
A condition which may develop in both LUNGS (interstitial pulmonary ?brosis) or part of one lung. Scarring and thickening of lung tissues occur as a consequence of previous lung in?ammation, which may have been caused by PNEUMONIA or TUBERCULOSIS. Symptoms include cough and breathlessness and diagnosis is con?rmed with a chest X-ray. The patient’s underlying condition should be treated, but the damage already done to lung tissue is usually irreversible. (See also ALVEOLITIS.)... pulmonary fibrosis
See separate dictionary entry.... systemic lupus erythematosus (sle)
Scarring of lung tissue mainly involving the alveoli. There are a number of causes, including occupational exposure to dusts and fibrosing alveolitis, which is an autoimmune disorder.... interstitial pulmonary fibrosis
See lupus erythematosus.... systemic lupus erythematosus
either of the paired ridges of tissue that run along the dorsal surface of the abdominal cavity of the embryo. Parts of it develop into the kidney, ovary, or testis and their associated ducts. Intermediate stages of these developments are the *pronephros, *mesonephros, and *metanephros.... nephrogenic cord
(RPF) a condition in which a dense plaque of fibrous tissue develops behind the peritoneum adjacent to the abdominal aorta. It may be secondary to malignancy, medication (methysergide, beta blockers), aortic aneurysm, or certain infections. The ureters become encased and hence obstructed, causing acute *anuria and renal failure. The obstruction can be relieved by *nephrostomy or the insertion of double J *stents. In the acute phase steroid administration may help, but in established RPF *ureterolysis is required.... retroperitoneal fibrosis
the system of blood vessels that supplies all parts of the body except the lungs. It consists of the aorta and all its branches, carrying oxygenated blood to the tissues, and all the veins draining deoxygenated blood into the vena cava. Compare pulmonary circulation.... systemic circulation
see shock.... systemic inflammatory response
(IPF) a serious interstitial lung disease, formerly called cryptogenic fibrosing alveolitis (see alveolitis). It is characterized by progressive fibrous scarring of the lung and increased numbers of inflammatory cells in the alveoli and surrounding tissues. The disease is usually diagnosed on clinical grounds on a basis of worsening breathlessness, inspiratory crackles at the lung bases on auscultation, clubbing of the fingers or toes, bilateral radiographic shadowing predominantly in the lower zones of the chest X-ray, subpleural *honeycomb change on CT scanning of the chest, and restrictive lung function on spirometry. It is also called usual interstitial pneumonia (UIP; see interstitial pneumonia), a term used by lung pathologists for the most common cellular pattern seen on biopsy. Treatment includes *pirfenidone, corticosteroids, and immunosuppressants.... idiopathic pulmonary fibrosis
(NDI) a condition characterized by *polyuria and *polydipsia and due to failure of the renal tubules to respond, or to respond fully, to *vasopressin. One form of congenital NDI is caused by an X-linked (see sex-linked) dominant mutation of the gene encoding the vasopressin V2 receptor. A rarer form of congenital NDI is an autosomal recessive condition associated with genetic mutations in the gene encoding AQP-2 water channels (see aquaporin). Acquired NDI is much commoner than the congenital form and usually less severe. It is present in most patients with advancing chronic renal failure, is a feature of certain electrolyte disorders (hypokalaemia, hypercalcaemia), and can complicate chronic lithium treatment.... nephrogenic diabetes insipidus
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