Glossary

Living with Lowe Syndrome

IX. Glossary of Common Medical Terms in Lowe Syndrome

Acidosis. A condition of acid-base imbalance characterized by a body pH level that is lower than normal.

Amino acids. A group of 20 different kinds of small molecules that link together in long chains to form proteins. Often referred to as the "building blocks" of proteins.

Amniocentesis. Prenatal diagnosis method using cells in the amniotic fluid for genetic or biochemical studies.

Animal model. A laboratory animal useful for medical research because it has specific characteristics that resemble a human disease or disorder. Scientists can create animal models, usually laboratory mice, by transferring new genes into them.

Antiepileptic Drugs (AEDs). Medications used to control seizures.

Buphthalmos. Abnormal enlargement of the eye caused by increased pressure (glaucoma).

Carrier. A person whose genetic make-up includes the gene for a specific condition but who does not have the condition.

Cataract. Clouding of the lens of the eye.

Chromosome. Structures in the nucleus of a cell which are sets of linear DNA on which the genes are arranged, carrying all the instructions for a species.

Congenital. Any trait or condition that exists from birth.

Cornea. The transparent part of the eyeball that covers the iris and pupil.

Creatinine. A waste product which can be measured in the blood to determine kidney function.

Cryptorchidism. Undescended testes at birth.

CT scan. (sometimes referred to as CAT scan) Computed tomography, an X-ray technique that uses a computer to construct images of the body.

CVS (Chorionic Villus Sampling). A prenatal test done at 9-10 weeks.

Cysts. Fluid-filled sacs.

Dialysis. A method for removing waste such as urea from the blood when the kidneys can no longer do the job. The two types of dialysis are: hemodialysis and peritoneal dialysis. In hemodialysis, the patient's blood is passed through a tube into a machine that filters out waste products. The cleansed blood is then returned to the body. In peritoneal dialysis, a special solution is run through a tube into the peritoneum, a thin tissue that lines the cavity of the abdomen. The body's waste products are removed through the tube.

DNA (Deoxyribonucleic Acid). The substance of heredity; the primary genetic material of all cells which tells the cells what to do and when to do it. DNA is the blueprint for all of the structures and functions of a living being.

EEG (electroencephalography). A neurological test that measures brain waves to evaluate seizure disorders.

Enzyme. A special type of protein that helps the body's chemistry work better and more quickly by speeding up a chemical reaction or causing a chemical change in another substance.

Fanconi Syndrome. A condition seen in several diseases (including Lowe syndrome) in which substances filtered by the kidney are excreted rather than reabsorbed due to abnormal tubules.

Gene. The fundamental unit of heredity. A gene is the position on a chromosome where a specific DNA sequence, or allele, resides in the cells and mitochondria. A gene contains the code for a specific product such as an enzyme.

Genetic Counselor. A medical professional (not a physician) specializing in working with patients and families with genetically inherited conditions. Genetic counseling may include a discussion and analysis of a person's family tree and testing procedures.

Geneticist. A geneticist is a scientist and/or physician specializing in the study of genes and in the treatment of genetic disorders.

Glaucoma. An eye disease associated with increased pressure within the eye. Glaucoma can damage the optic nerve and cause impaired vision and blindness.

Glomeruli. Part of the kidney in which filtering takes place.

Golgi Apparatus. A specific part of the cell that is active in the modification and transport of proteins.

G-Tube (Gastrostomy Tube). A method to facilitate feeding in which a tube is surgically placed directly into the stomach, through the abdominal wall.

Hernia. The protrusion of part of an organ or tissue through an abnormal opening.

Hypermobile. Greater than normal range of movement of joints.

Hypotonia. Poor or low muscle tone, such as seen in "floppy babies."

Inborn errors of metabolism. Inherited diseases resulting from alterations in genes that code for enzymes.

Keloid. A thick scar resulting from excessive growth of fibrous tissue. [Image 1] [Image 2]

Kidneys. Two organs in the lower back that clean waste and poisons from the blood and pass them out of the body as urine. The kidneys are shaped like two large beans, and they act as the body's filter. They also control the level of some chemicals in the blood such as hydrogen, sodium, potassium, and phosphate.

L-Carnitine. A small molecule protein responsible for the transport of long chain fatty acids into mitochondria.

Magnetic Resonance Imaging (MRI). An imaging technique in which magnetic energy is used to examine tissues in the body, and the information is used by a computer to create an image.

Metabolite. Product of metabolism.

Mutation. A change (in the number, arrangement, or molecular sequence ) in the sequence of DNA coding in a gene.

Nephrocalcinosis. Calcium deposits in kidney tissue.

Nephrolithiasis. Calcium deposits in the urine collecting system of the kidney (kidney stones).

Nephrologist. A medical doctor who sees and treats people with kidney diseases.

Neurologist. A medical doctor who sees and treats people who have problems of the nervous system, the brain, spinal cord and peripheral nerves.

NG (Nasogastric) Tube. A method to facilitate feeding in which a tube is placed through the mouth or nose into the stomach.

NIH (National Institutes of Health). A U.S. government-supported biomedical research center made up of 25 institutes and centers in Bethesda, Maryland. In recent years Lowe syndrome research has taken place in the National Human Genome Research Institute.

Nystagmus. Uncontrollable rhythmical oscillation of the eyes.

OCRL. Oculo-cerebro-renal syndrome of Lowe (Lowe syndrome)

Ophthalmologist. A physician who diagnoses and treats people with eye problems or diseases.

Prenatal. Before birth.

Prenatal diagnosis. Examining fetal cells taken from the amniotic fluid, the primitive placenta (chorion), or the umbilical cord for biochemical, chromosomal, or gene alterations.

Prognosis. Telling a person now what is likely to happen in the future because of having a disease.

Reflux (Gastroesophageal Reflux or GER). A condition in which the sphincter muscle at the top of the stomach does not stay shut, allowing food or liquids to come back up the esophagus.

Renal. A term that means having something to do with the kidneys.

Rickets. Soft bones.

Scoliosis. Curvature of the spine.

Seizures. Disturbances of brain function, manifested as episodic impairment or loss of consciousness, abnormal often jerky movement, or sensory disturbances. Caused by disturbances in the electrical activity of the brain.

SGOT. A liver enzyme; lab values are frequently high in Lowe syndrome even in the absence of liver disease.

Strabismus. Crossed eyes.

Syndrome. A collection of many symptoms and signs associated with a single disease.

Tubule. Part of the kidney in which reabsorption takes place.