The following are health and medical definitions of terms that appear in the Cystinuria article. Abnormal: Not normal. Deviating from the usual structure, position, condition, or behavior. In referring to a growth, abnormal may mean that it is cancerous or premalignant (likely to become cancer ).
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Access: 1. In general, a means of approaching something. 2. In health care, the opportunity or right to receive health care. 3. In dialysis, the point on the body where a needle or catheter is inserted to gain entry to the bloodstream.
Albinism: A group of genetic disorders in which there is partial or total lack of the pigment melanin in the eyes, skin, and hair.
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Alkaptonuria: A genetic metabolic disorder due to deficiency of the enzyme homogentisic acid (HGA) dioxygenase. Deficiency of this enzyme leads to the three cardinal features of alkaptonuria --the presence of homogentisic acid in the urine, ochronosis (bluish-black pigmentation in connective tissue ), and arthritis .
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Allelic: Pertaining to an allele, an alternative form of a gene. A single allele is inherited from each parent.
Amino acid: One of the 20 building blocks of protein . The sequence of amino acids in a protein and, hence, the function of that protein are determined by the genetic code in the DNA .
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Amino acids: The building blocks of polypeptides and proteins.
Analysis: A psychology term for processes used to gain understanding of complex emotional or behavioral issues.
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Arginine: An amino acid , one of the 20 amino acids that serve as the building blocks in protein . Arginine is not an "essential" amino acid. It is not essential to the diet, but can be made by the body from other substances. However, it is usually considered essential to the diet for children so they can grow normally. Lack of arginine in the diet impairs growth and in adult males it decreases the sperm count.
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Autosomal: Pertaining to a chromosome that is not a sex chromosome; relating to any one of the chromosomes save the sex chromosomes.
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Autosomal recessive: A genetic condition that appears only in individuals who have received two copies of an autosomal gene , one copy from each parent. The gene is on an autosome , a nonsex chromosome . The parents are carriers who have only one copy of the gene and do not exhibit the trait because the gene is recessive to its normal counterpart gene.
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Bicarbonate: In medicine, bicarbonate usually refers to bicarbonate of soda (sodium bicarbonate, baking soda) white powder that is common ingredient in antacids. Also, the bicarbonate level is an indirect measure of the acidity of the blood that is determined when electrolytes are tested. The normal serum range for bicarbonate is 22-30 mmol/L.
Bladder: Any pouch or other flexible enclosure that can hold liquids or gases but usually refers to the hollow organ in the lower abdomen that stores urine -- the urinary bladder. The kidneys filter waste from the blood and produce urine, which enters the bladder through two tubes called ureters. Urine leaves the bladder through another tube, the urethra . In women, the urethra is a short tube that opens just in front of the vagina . In men, it is longer, passing through the prostate gland and then the penis . Infection of the bladder is called cystitis .
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Blood: The familiar red fluid in the body that contains white and red blood cells, platelets, proteins, and other elements. The blood is transported throughout the body by the circulatory system. Blood functions in two directions: arterial and venous. Arterial blood is the means by which oxygen and nutrients are transported to tissues while venous blood is the means by which carbon dioxide and metabolic by-products are transported to the lungs and kidneys, respectively, for removal from the body.
Blood in the urine: Blood in the urine is termed hematuria.
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Calculi: The plural of calculus. (Calculi is the proper Latin plural. The alternate English plural is calculuses.)
Cell: The basic structural and functional unit in people and all living things. Each cell is a small container of chemicals and water wrapped in a membrane .
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Chromosome: A visible carrier of the genetic information.
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Clinical: 1. Having to do with the examination and treatment of patients. 2. Applicable to patients. A laboratory test may be of clinical value (of use to patients).
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Colic: An attack of crying and apparent abdominal pain in early infancy. This is a common condition, occurring in about 1 in every 10 babies. Colic is characterized by episodes of irritability, loud crying, and what appears to be abdominal pain with the legs drawn up and the abdomen feeling rigid.
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Cystine: An amino acid that is particularly notable because it is the least soluble of all of the naturally occurring amino acids and because it precipitates out of solution in the genetic disease cystinuria to form stones in the urinary tract. Cystine is the chief sulfur-containing compound in protein. Cystine is generated by the union of two cysteine molecules and so is sometimes called dicysteine. It is abbreviated Cys-Cys. See also: Cystinuria.
Cystinuria : An inherited (genetic) disorder of the transport of an amino acid (a building block of protein) called cystine resulting in an excess of cystine in the urine (cystinuria) and the formation of cystine stones.
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Diagnosis: 1 The nature of a disease ; the identification of an illness. 2 A conclusion or decision reached by diagnosis. The diagnosis is rabies . 3 The identification of any problem. The diagnosis was a plugged IV.
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Dialysis: The process of cleansing the blood by passing it through a special machine. Dialysis is necessary when the kidneys are not able to filter the blood. Dialysis allows patients with kidney failure a chance to live productive lives. There are two types of dialysis: hemodialysis and peritoneal dialysis. Each type of dialysis has advantages and disadvantages. Patients can often choose the type of long term dialysis that best matches their needs.
Dilate: To stretch or enlarge. It comes from the Latin verb "dilatare" meaning "to enlarge or expand."
Disease: Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the rubella (German measles) virus.
Endourologist: An endourologist is a urologist with special expertise in navigating, using endoscopic optical instruments and other tools, inside the kidney, ureter and bladder. Endourologists are specialists in treating diseases of these organs.
Extracorporeal: Outside the body, in the anatomic sense. As in extracorporeal circulation, extracorporeal dialysis, and extracorporeal shock wave lithotripsy. From extra- + corpus, meaning body.
Extracorporeal shock wave lithotripsy: A technique for shattering stones such as kidney stones or gallstones with a shock wave produced outside the body.
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Family: 1. A group of individuals related by blood or marriage or by a feeling of closeness. 2. A biological classification of related plants or animals that is a division below the order and above the genus. 3. A group of genes related in structure and in function that descended from an ancestral gene. 4. A group of gene products similarly related in structure and function and of shared genetic descent. 5. Parents and their children. The most fundamental social group in humans.
Fluoroscopy: An x-ray procedure that makes it possible to see internal organs in motion.
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Gene: The basic biological unit of heredity . A segment of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Genes: The basic biological units of heredity . Segments of deoxyribonucleic acid (DNA) needed to contribute to a function.
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Genetic: Having to do with genes and genetic information.
Genetics: The scientific study of heredity . Genetics pertains to humans and all other organisms. So, for example, there is human genetics, mouse genetics, fruitfly genetics, etc.
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Hematuria: Blood in the urine. Hematuria may or may not be accompanied by pain, but it is always abnormal and should be further investigated. Painful hematuria can be caused by a number of disorders, including infections and stones in the urinary tract. Painless hematuria can also be due to many causes, including cancer.
Incision: A cut. When making an incision, a surgeon is making a cut.
Infection: The growth of a parasitic organism within the body. (A parasitic organism is one that lives on or in another organism and draws its nourishment therefrom.) A person with an infection has another organism (a "germ") growing within him, drawing its nourishment from the person.
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Interventional: Pertaining to the act of intervening, interfering or interceding with the intent of modifying the outcome. As, for example, an interventional radiologist.
Interventional radiologist: A radiologist who uses image guidance methods to gain access to vessels and organs. Interventional radiologists can treat certain conditions through the skin (percutaneously) that might otherwise require surgery . The technology includes the use of balloons, catheters, microcatheters, stents, and therapeutic embolization (deliberately clogging up a blood vessel ). The specialty of interventional radiology overlaps with other fields, including interventional cardiology , vascular surgery, endoscopy , laparoscopy , and other minimally invasive techniques, such as biopsies. Specialists performing interventional radiology procedures today include not only radiologists but also other types of physicians such as general surgeons, vascular surgeons, cardiologists, gastroenterologists, gynecologists, and urologists.
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Kidney: One of a pair of organs located in the right and left side of the abdomen which clear "poisons" from the blood, regulate acid concentration and maintain water balance in the body by excreting urine. The kidneys are part of the urinary tract. The urine then passes through connecting tubes called "ureters" into the bladder. The bladder stores the urine until it is released during urination.
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Kidney transplant: Replacement of a diseased, damaged, or missing kidney with a donor kidney. Also called a renal transplant.
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Laboratory: A place for doing tests and research procedures and preparing chemicals, etc. Although "laboratory" looks very like the Latin "laboratorium" (a place to labor, a work place), the word "laboratory" came from the Latin "elaborare" (to work out, as a problem, and with great pains), as evidenced by the Old English spelling "elaboratory" designating "a place where learned effort was applied to the solution of scientific problems."
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Lithotripsy: A procedure to break a stone into small particles that can be passed in the urine.
Lysine: An amino acid, one of the 20 building blocks of protein. A dietary essential amino acid, lysine is present in many proteins and is necessary for optimal growth in childhood. Symbol: Lys.
Membrane: A very thin layer of tissue that covers a surface.
Metabolism: The whole range of biochemical processes that occur within us (or any living organism). Metabolism consists both of anabolism and catabolism (the buildup and breakdown of substances, respectively). The term is commonly used to refer specifically to the breakdown of food and its transformation into energy.
Molecule: The smallest unit of a substance that can exist alone and retain the character of that substance.
Morbidity: Illness, disease.
Mortality: A fatal outcome or, in one word, death. The word "mortality" is derived from "mortal" which came from the Latin "mors" (death). The opposite of mortality is, of course, immortality. Mortality is also quite distinct from morbidity (illness).
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Mutation: A permanent change, a structural alteration, in the DNA or RNA . In humans and many other organisms, mutations occur in DNA. However, in retroviruses like HIV , mutations occur in RNA which is the genetic material of retroviruses.
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Nephrolithiasis: The process of forming a kidney stone, a stone in the kidney (or lower down in the urinary tract ).
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Obstruction: Blockage of a passageway. See, for example: Airway obstruction; Intestinal obstruction.
Ornithine: An amino acid that is not found in protein but is important in the formation of urea and the disposal of excess nitrogen. Ornithine is produced when urea is split off from arginine and ornithine is itself converted into citrulline.
Pain: An unpleasant sensation that can range from mild, localized discomfort to agony. Pain has both physical and emotional components. The physical part of pain results from nerve stimulation. Pain may be contained to a discrete area, as in an injury, or it can be more diffuse, as in disorders like fibromyalgia . Pain is mediated by specific nerve fibers that carry the pain impulses to the brain where their conscious appreciation may be modified by many factors.
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Percutaneous: Through the skin, as in a percutaneous biopsy.
Prevalence: The proportion of individuals in a population having a disease. Prevalence is a statistical concept referring to the number of cases of a disease that are present in a particular population at a given time.
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Protein: A large molecule composed of one or more chains of amino acids in a specific order determined by the base sequence of nucleotides in the DNA coding for the protein.
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Proteins: Large molecules composed of one or more chains of amino acids in a specific order determined by the base sequence of nucleotides in the DNA coding for the protein.
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Radiologist: A physician specialized in radiology , the branch of medicine that uses ionizing and nonionizing radiation for the diagnosis and treatment of disease.
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Radiology: The branch of medicine that uses ionizing and nonionizing radiation for the diagnosis and treatment of disease.
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Receptor: 1. In cell biology, a structure on the surface of a cell (or inside a cell) that selectively receives and binds a specific substance. There are many receptors. There is a receptor for ( insulin ; there is a receptor for low-density lipoproteins ( LDL ); etc. To take an example, the receptor for substance P, a molecule that acts as a messenger for the sensation of pain , is a unique harbor on the cell surface where substance P docks. Without this receptor, substance P cannot dock and cannot deliver its message of pain. Variant forms of nuclear hormone receptors mediate processes such as cholesterol metabolism and fatty acid production. Some hormone receptors are implicated in diseases such as diabetes and certain types of cancer. A receptor called PXR appears to jump-start the body's response to unfamiliar chemicals and may be involved in drug-drug interactions.
2. In neurology, a terminal of a sensory nerve that receives and responds to stimuli.
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Recessive: A condition that appears only in individuals who have received two copies of a mutant gene, one copy from each parent. The individuals with a double dose of the mutated gene are called homozygotes. Their parents, each with a single dose of the mutated gene, appear normal and are called heterozygotes, or gene carriers.
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Renal: Having to do with the kidney. From the Latin renes (the kidneys), which gave the French les reins which mean both the kidneys and the lower back.
Shock: In medicine, shock is a critical condition brought on by a sudden drop in blood flow through the body. There is failure of the circulatory system to maintain adequate blood flow. This sharply curtails the delivery of oxygen and nutrients to vital organs. It also compromises the kidney and so curtails the removal of wastes from the body. Shock can be due to a number of different mechanisms including not enough blood volume (hypovolemic shock) and not enough output of blood by the heart (cardiogenic shock). The signs and symptoms of shock include low blood pressure (hypotension), overbreathing (hyperventilation), a weak rapid pulse, cold clammy grayish-bluish (cyanotic) skin, decreased urine flow (oliguria), and mental changes (a sense of great anxiety and foreboding, confusion and, sometimes, combativeness).
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Side effects: Problems that occur when treatment goes beyond the desired effect. Or problems that occur in addition to the desired therapeutic effect.
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Skin: The skin is the body's outer covering. It protects us against heat and light, injury, and infection. It regulates body temperature and stores water, fat, and vitamin D. Weighing about 6 pounds, the skin is the body's largest organ. It is made up of two main layers; the outer epidermis and the inner dermis.
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Sodium: The major positive ion (cation) in fluid outside of cells. The chemical notation for sodium is Na+. When combined with chloride, the resulting substance is table salt.
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Specificity: 1. The quality of being specific as, for example, she showed the use of specificity in her diagnosis. 2. The proportion of persons without a disease who are correctly identified by a test. The specificity is the number of true negative results divided by the sum of the numbers of true negative plus false positive results.
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Substance: 1. Material with particular features, as a pressor substance.
2. The material that makes up an organ or structure. Also known in medicine as the substantia.
3. A psychoactive drug as, for example, in substance abuse.
Trait: In genetics, a trait refers to any genetically determined characteristic. In technical terms, a genetic trait is amenable to segregation analysis rather than quantitative analysis.
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Transplant: The grafting of a tissue from one place to another, just as in botany a bud from one plant might be grafted onto the stem of another. The transplanting of tissue can be from one part of the patient to another (autologous transplantation), as in the case of a skin graft using the patient's own skin; or from one patient to another (allogenic transplantation), as in the case of transplanting a donor kidney into a recipient.
Transport defect: Within the body, many molecules are able to pass across the membranes that surround cells. These molecules can accomplish this feat due to specific transport systems. These systems include special receptors on the membrane of the cell and special carrier proteins. The receptor recognizes the molecule and receives it on the cell membrane. Then the molecule hitches a ride through the cell membrane on the back of a carrier protein.
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Transporter gene: See: Gene, transporter.
Ureter: A tube that carries urine down from the kidney to the bladder.
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Urinary: Having to do with the kidneys, ureters, and bladder. The urinary system represents the functional and anatomic aspects of the kidneys, ureters, and bladder.
Urinary tract: The organs of the body that produce and discharge urine. These include the kidneys, ureters, bladder, and urethra.
Urine: Liquid waste. The urine is a clear, transparent fluid. It normally has an amber color. The average amount of urine excreted in 24 hours is from 40 to 60 ounces (about 1,200 cubic centimeters). Chemically, the urine is mainly an aqueous (watery) solution of salt (sodium chloride) and substances called urea and uric acid. Normally, it contains about 960 parts of water to 40 parts of solid matter. Abnormally, it may contain sugar (in diabetes), albumen (a protein) (as in some forms of kidney disease), bile pigments (as in jaundice), or abnormal quantities of one or another of its normal components.
X-ray: 1. High-energy radiation with waves shorter than those of visible light. X-rays possess the properties of penetrating most substances (to varying extents), of acting on a photographic film or plate (permitting radiography), and of causing a fluorescent screen to give off light (permitting fluoroscopy). In low doses X-rays are used for making images that help to diagnose disease, and in high doses to treat cancer . Formerly called a Roentgen ray. 2. An image obtained by means of X-rays.
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- penicillamine, Cuprimine, Depen - Information on penicillamine (Cuprimine, Depen) a drug prescribed for the treatment of rheumatoid arthritis, Wilson's disease, lead poisoning, and the prevention of kidney stones in individual's with cystinuria.
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