Alpha-antitrypsin deficiency Health Dictionary

Alpha-1 Antitrypsin Deficiency: From 2 Different Sources


A rare genetic disorder in which a person is missing the enzyme alpha1-antitrypsin, which protects the body from damage by other enzymes.

The disease mainly affects tissues in the lungs, resulting in emphysema, and the liver, causing cirrhosis.

The effects of alpha1-antitrypsin deficiency may not become apparent until after the age of 30.

There is no cure, but symptoms can be relieved by drug treatment.

In severe cases, a liver transplant may be a possibility.

Health Source: BMA Medical Dictionary
Author: The British Medical Association
a rare inherited disorder associated with lung and liver diseases. It is caused by a deficiency of ?1-antitrypsin, a plasma globulin whose role is to inhibit the action of various protease enzymes (including trypsin), which protect the lungs against the action of the enzyme neutrophil elastase. This results in degradation of the *elastin of alveolar walls as well as structural proteins in other tissues, including the liver. Although many patients present in childhood, the disorder can occur in adults as well.
Health Source: Oxford | Concise Colour Medical Dictionary
Author: Jonathan Law, Elizabeth Martin

Alpha-fetoprotein

A protein that is produced in the liver and gastrointestinal tract of the fetus and by some abnormal tissues in adults.

Alpha-fetoprotein (AFP) can be measured in the maternal blood from the latter part of the 1st trimester of pregnancy, and its concentration rises between the 15th and 20th weeks.

Raised levels of are associated with fetal neural tube defects, such as spina bifida or anencephaly, and certain kidney abnormalities. High levels of also occur in multiple pregnancies (see pregnancy, multiple) and threatened or actual miscarriage. levels may be unusually low if the fetus has Down’s syndrome. For this reason, measurement of blood is included in blood tests, which are used to screen pregnant women for an increased risk of Down’s syndrome.

levels are commonly raised in adults with hepatoma (see liver cancer), cancerous teratoma of the testes or ovaries, or cancer of the pancreas, stomach, or lung.

For this reason, is known as a tumour marker.

(AFP) levels can be used to monitor the results of treatment of certain cancers; increasing levels after surgery or chemotherapy may indicate tumour recurrence.

However, levels are also raised in some noncancerous conditions, including viral and alcoholic hepatitis and cirrhosis.... alpha-fetoprotein

Acquired Immune Deficiency Syndrome (aids)

A severe manifestation of infection with the Human immunodeficiency virus (HIV).... acquired immune deficiency syndrome (aids)

Alpha

(Greek) The firstborn child; the first letter of the Greek alphabet... alpha

Alpha (i) Error

See “Type I error”.... alpha (i) error

Alpha (i) Statistic

A statistic commonly used to reflect the reliability of a measurement scale. See “reliability”.... alpha (i) statistic

Alpha Adrenergic Blockers

Also called adrenoceptor-blocking agents or alpha blockers, these drugs stop the stimulation of alpha-adrenergic receptors at the nerve endings of the SYMPATHETIC NERVOUS SYSTEM by HORMONES with ADRENALINE-like characteristics. The drugs dilate the arteries, causing a fall in blood pressure, so they are used to treat HYPERTENSION and also benign enlargement of the PROSTATE GLAND. Examples of this group of drugs are doxazosin, indoramin, phentolamine and prazosin. The drugs should be used with caution as some may cause a severe drop in blood pressure when ?rst taken.... alpha adrenergic blockers

Alpha-feto Protein

A protein produced in the gut and liver of the FETUS. Abnormality in the fetus, such as neural tube defect, may result in raised levels of alphafeto protein in the maternal blood. In DOWN’S (DOWN) SYNDROME, levels may be abnormally low. In either case, screening of the pregnancy should be carried out, including AMNIOCENTESIS to check the amount of alpha-feto protein in the amniotic ?uid. The protein may also be produced in some abnormal tissues in the adult – in patients with liver cancer, for example.... alpha-feto protein

Deficiency Disease

Any disease resulting from the absence from the diet of any substance essential to good health: for example, one of the vitamins.... deficiency disease

Glucose-6-phosphate-dehydrogenase (g6pd) Deficiency

A deficiency in the enzyme G6PD resulting in a haemolytic anaemia. This haemoglobinopathy contraindicates the use of the 4-aminoquinolines such as primaquine for the radical treatment of benign tertian and ovale tertian malaria.... glucose-6-phosphate-dehydrogenase (g6pd) deficiency

Anaemia: Iron Deficiency

An estimated 15 per cent of the female population suffers from this form of anaemia. A deficiency of nutritional iron is responsible for oxygen starvation of the blood due to insufficient haemoglobin. Number of red cells is reduced.

Aetiology: heavy menstrual loss, feeble constitution from hereditary weakness, poor diet, hidden or known blood loss from gastric ulcer, pregnancy, bleeding piles or insufficient food minerals: iron, copper, calcium, etc, chronic liver or kidney disease, worms, anorexia nervosa, rheumatoid arthritis, tuberculosis. Symptoms. Tiredness, dizziness, breathlessness, palpitations, pale face and mucous membranes. White of eyes may be blue. Enlarged flabby tongue often bears impression of teeth marks. Hair lifeless, fingernails brittle and ridged. There may be angina, tinnitus and general reduced efficiency.

Treatment. The object is to achieve absorption of iron to raise normal haemoglobin levels and increase red cells. Echinacea has a reputation for regeneration of red cells. Herbs used with success: Echinacea, Gentian, Motherwort, Mugwort, Barberry, Hops, Nettles, Saw Palmetto, Chaparral, Red Clover, Dandelion.

Bitter herbs stimulate absorption of vital nutrients from the stomach, toning liver and pancreas, increasing the appetite; usually given half hour before meals. See: BITTERS.

Gentian. 1 teaspoon fine-cut chips to 2 cups cold water steeped 8 hours (overnight). Dose: Half-1 cup thrice daily before meals.

Tea. Formula. Combine: Agrimony 1; Barberry bark 1; Nettles 2; White Poplar bark half. Place 1oz (30g) in 1 pint (500ml) cold water and bring to boil. Simmer 10 minutes. Drink cold: Half-1 cup thrice daily, before meals.

Powders. Formula. Echinacea 2; Gentian 1; Kelp 1; pinch Red Pepper. Dose: 500mg (two 00 capsules or one-third teaspoon) thrice daily, before meals.

Liquid extracts. Formula: Echinacea 1; Queen’s Delight 1; Ginseng 1; Ginger quarter. Dose: 30-60 drops in water, thrice daily, before meals.

Infusion Gentian Co Conc BP (1949). Dose: 30-60 drops.

Diet. Dandelion coffee, as desired. Molasses. Desiccated liver.

Floradix. A pre-digested iron preparation. Readily assimilable by the body. Compounded by Dr Otto Greither (Salus Haus). Iron is fed onto yeast which breaks down the metal and absorbs its cells. Other tonic ingredients include extracts of nettles, carrots, spinach, fennel, Vitamin C plus supplements;

Angelica root, Mallow, Horsetail, Yarrow, Juniper and Rosehips. Not chemically preserved.

Avoid chocolate, egg yolk, tea, coffee, wheat bran.

Supplements. Daily. Vitamin C (1g morning and evening). Vitamin B12, Folic acid 400mcg. Vitamin C is the most potent enhancer of iron absorption. Multivitamin containing iron.

Note: Iron absorption is decreased by antacids, tetracyclines, phosphates, phytates (phytic acid from excessive intake of wholewheat bread), and excessive calcium supplements. Lack of stomach hydrochloric acid impairs iron absorption, especially in the elderly. ... anaemia: iron deficiency

Alpha-blocker Drugs

A group of drugs used to treat hypertension (high blood pressure) and urinary symptoms due to enlargement of the prostate gland. Alpha-blockers are also used to treat urinary retention caused by an enlarged prostate gland (see prostate, enlarged). Side effects of the drugs may include dizziness and fatigue due to a sudden drop in blood pressure, nausea, dry mouth, and drowsiness.... alpha-blocker drugs

Iron-deficiency Anaemia

See anaemia, iron-deficiency.... iron-deficiency anaemia

Lactase Deficiency

A condition in which there is an absence of lactase, an enzyme that breaks down lactose (milk sugar), in the cells of the small intestine.

Lactase deficiency results in a reduced ability to digest lactose, also known as lactose intolerance.

The condition may be permanent, or may occur temporarily after gastroenteritis, particularly in young children.

Symptoms include abdominal cramps, bloating, flatulence, and diarrhoea, all of which are caused by the laxative effect of the undigested sugar in the intestines.

Treatment is with a lactose-free diet.... lactase deficiency

Bile Secretion Deficiency

Bile is a greenish-yellow alkaline substance secreted by the liver which emulsifies fat and prevents putrefaction in the intestines. An aid to pancreatic juices.

Alternatives. To stimulate flow, Boldo, Horsetail, Dandelion, Blue Flag root, Milk Thistle, Bogbean, Burdock. Teas, capsules, tablets, Liquid extracts, or Tinctures.

A. Vogel recommends: Barberry, Centuary, St John’s Wort, Sarsaparilla.

Combination tea. Equal parts: Peppermint leaves, Milk Thistle, Dandelion root. 1 teaspoon to each cup boiling water; infuse 15 minutes, 1 cup thrice daily for limited period (1 month).

Bile in the urine. (Bilviria)

Arthur Barker: Liquid Extract Black root 1oz (30ml). Liquid Extract Cornsilk 1oz (30ml). Essential Peppermint 30 drops (2ml). Water to 8oz (240ml). 2 teaspoons in water 3 times daily before meals.

Diet. Dandelion coffee. Artichokes.

See: CHOLAGOGUES. CHOLERETICS. ... bile secretion deficiency

Anaemia, Iron-deficiency

The most common form of anaemia caused by a deficiency of iron, an essential constituent of haemoglobin. The main cause of iron-deficiency anaemia is iron loss due to heavy or persistent bleeding; the most common cause in women of childbearing age is menstruation. Other causes include blood loss from the digestive tract due to disorders such as erosive gastritis, peptic ulcer, stomach cancer, inflammatory bowel disease, haemorrhoids, and bowel tumours (see colon, cancer of). Prolonged use of aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) can cause gastrointestinal bleeding. In some countries, hookworm infestation of the digestive tract is an important cause of anaemia. Rarely, bleeding may also occur as a result of disorders of the urinary tract (such as kidney tumours or bladder tumours).

Iron deficiency may also be caused or worsened by lack of iron in, or its poor absorption from, the diet.

The symptoms are those of the underlying cause, along with a sore mouth or tongue, and those common to all forms of anaemia, such as fatigue and breathlessness. The diagnosis is made from blood tests and tests to look for an underlying cause. Treatment is given for the cause, along with a course of iron tablets or, very rarely, injections.... anaemia, iron-deficiency

Colour Vision Deficiency

Any abnormality in colour vision that causes difficulty distinguishing between certain colours. Total absence of colour vision (monochromatism) is rare. The most common types of colour vision deficiency are reduced discrimination of red and green. Most cases of red and green colour vision deficiency are caused by defects in the light-sensitive cells in the retina. These defects are usually inherited, although occasionally defects are caused by retinal or optic nerve diseases or injury. The inherited defects tend to be sex-linked (see genetic disorders), which means that the majority of sufferers are male. A person with a severe green deficiency has difficulty distinguishing oranges, greens, browns, and pale reds. In severe red deficiency, all reds appear dull. A much rarer deficiency in which blue cannot be distinguished may be inherited or may be due to degeneration of the retina or optic nerve.... colour vision deficiency

Acquired Immune Deficiency Syndrome

see AIDS.... acquired immune deficiency syndrome

Ada Deficiency

see adenosine deaminase deficiency.... ada deficiency

Adenosine Deaminase Deficiency

(ADA deficiency) a genetic disorder affecting about one baby in 25,000 and characterized by a defect in adenosine deaminase (ADA), an enzyme that is involved in purine metabolism. Deficiency of this enzyme results in selective damage to the antibody-producing lymphocytes; this in turn leads to a condition known as *severe combined immune deficiency (SCID), in which the affected baby has no resistance to infection and must be entirely isolated from birth. Such children have only about a 50% chance of surviving for six months. See also gene therapy.... adenosine deaminase deficiency

Alpha Agonist

see sympathomimetic.... alpha agonist

Alpha Blocker

(alpha-adrenergic blocker) a drug that prevents the stimulation of alpha *adrenoceptors at the nerve endings of the sympathetic nervous system by noradrenaline and adrenaline: it therefore causes relaxation of smooth muscle, including widening of arteries (vasodilatation) and a drop in blood pressure. Alpha blockers include *doxazosin, *phentolamine, *phenoxybenzamine, *indoramin, *prazosin, *alfuzosin, and *tamsulosin.... alpha blocker

Alpha-glucosidase Inhibitor

any member of a group of *oral hypoglycaemic drugs, including acarbose (Glucobay), used for treating type 2 *diabetes mellitus. They reduce the breakdown and absorption of carbohydrates in the intestine by blocking the action of an important enzyme (?-glucosidase) in this process. Side-effects include flatulence and diarrhoea.... alpha-glucosidase inhibitor

Deficiency

n. (in genetics) see deletion.... deficiency

Deficiency Disease

any disease caused by the lack of an essential nutrient in the diet. Such nutrients include *vitamins, minerals, *essential amino acids, and *essential fatty acids.... deficiency disease

Glucose-6-phosphate Dehydrogenase Deficiency

a hereditary disorder – an X-linked condition (see sex-linked) – in which the absence of the enzyme glucose-6-phosphate dehydrogenase (G6PD), which functions in carbohydrate metabolism, results in the breakdown of the red blood cells (*haemolysis), usually after exposure to *oxidants, such as drugs, or infections. The breakdown causes acute attacks that are characterized by pallor, loin pain, and rigors. There are several varieties of G6PD deficiency, which is most common in people of African, Middle Eastern, and Mediterranean descent. Treatment involves identifying and avoiding agents that trigger the haemolysis and treating acute attacks symptomatically. See also favism.... glucose-6-phosphate dehydrogenase deficiency

Severe Combined Immune Deficiency

(SCID) a rare disorder that usually manifests itself within the first three months of life by severe bacterial, fungal, and viral infection and *failure to thrive. It is due to reduced numbers of T and B *lymphocytes – white blood cells necessary for fighting infection. Some cases are caused by *adenosine deaminase deficiency. The only treatment currently available is a bone-marrow transplant, but *gene therapy offers hope for the future.... severe combined immune deficiency



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