congenital nephrogenic diabetes insipidus

DEFINITION:

A condition involving the kidneys (see nephrogenic diabetes insipidus) which exists at, and usually before, birth. Congenital refers to conditions that are present at birth, regardless of their causation.

NDI

DEFINITION:

Nephrogenic diabetes insipidus.

inherited disorder

DEFINITION:

A derangement or abnormality of function or a morbid physical or mental state acquired by transmission from parent to offspring.

characterized

DEFINITION:

Marked or distinguished as a characteristic.

kidney

DEFINITION:

One of a pair of vertebrate organs situated in the body cavity near the spinal column that excrete waste products of metabolism, in man are bean-shaped organs about 4-1/2 inches long lying behind the peritoneum in a mass of fatty tissue, and consist chiefly of nephrons by which urine is secreted, collected, and discharged into a main cavity whence it is conveyed by the ureter to the bladder.

concentrate

DEFINITION:

1. To bring to a common center; to gather together at one point.

2. To increase the strength by diminishing the bulk of, as of a liquid; to condense.

3. A drug or other preparation that has been strengthened by the evaporation of its non-active parts.

urine

DEFINITION:

The fluid excreted by the kidneys, passed through the ureters, stored in the bladder, and discharged through the urethra. Urine, in health, has an amber color, a slight acid reaction, a peculiar odor, and a bitter, saline taste.

vasopressin

DEFINITION:

1. One of two octapeptide hormones formed by the neuronal cells of the hypothalamic nuclei and stored in the posterior lobe of the pituitary gland (neurohypophysis), the other being oxytocin. It stimulates the contraction of the muscular tissue of the capillaries and arterioles, raising the blood pressure. It promotes contraction of the intestinal musculature and increases peristalsis, and also exerts some contractile influence on the uterus. It also has a specific effect on the epithelial cells of the distal portion of the uriniferous tubule, augmenting resorption of water independently of solutes, resulting in concentration of urine and dilution of blood serum. Its rate of secretion is regulated chiefly by the osmolarity of the plasma.

2. [USP], A pharmaceutical preparation of the same principle, prepared synthetically or obtained from the posterior pituitary of healthy domestic animals used for food by man; used mainly as an antidiuretic in the treatment of acute or chronic diabetes insipidus, administered intramuscularly as a test of hypothalamo-neurohypophysial-renal function in distinguishing central from nephrogenic diabetes insipidus; it may also be used to stimulate smooth muscle tissue, especially to induce vasoconstriction in the presence of hemorrhage. Called also antidiuretic hormone (ADH).

AVP

DEFINITION:

Arginine vasopressin.

characterization

DEFINITION:

1. Indicating the character or peculiar quality of a person or thing; indicating a typical or distinctive quality.

2. Indicating a distinguishing feature or quality.

cDNA

DEFINITION:

Complementary DNA or copy DNA.

encoding

DEFINITION:

The process of converting (as a body of information) from one system of communication into another; esp.: to convert (a message) into code.

V2 receptor

DEFINITION:

See under receptor .

AVP

DEFINITION:

Arginine vasopressin.

AVPR2

DEFINITION:

Arginine-vasopressin receptor 2 gene.

X-linked NDI

DEFINITION:

A form of diabetes insipidus, inherited as an X-linked trait, caused by failure of the renal tubules to reabsorb water in response to antidiuretic hormone, without disturbance in the renal filtration and solute excretion rates; the condition does not respond to exogenous vasopressin.

mutations

DEFINITION:

1. Changes in form, quality, or some other characteristic.

AVPR2 gene

DEFINITION:

Arginine-vasopressin receptor 2 gene.

chromosome

DEFINITION:

In animal cells, a structure in the nucleus containing a linear thread of DNA, which transmits genetic information and is associated with RNA and histones; during cell division, the material (chromatin) composing the chromosome is compactly coiled, making it visible with appropriate staining and permitting its movement in the cell with minimal entanglement. Each organism of a species normally has a characteristic number of chromosomes in its somatic cells, 46 being the number normally present in man, including the two (XX or XY) which determine the sex of the organism.

homologous chromosomes - A matching pair of chromosomes, one from each parent, with the same gene loci in the same order.

mutations

DEFINITION:

1. Changes in form, quality, or some other characteristic.

AVPR2

DEFINITION:

Arginine-vasopressin receptor 2 gene.

superfamily

DEFINITION:

1. A taxonomic category sometimes established, subordinate to an order and superior to a family.
2. Any of a group of proteins having similarities such as areas of structural homology and believed to descend from the same ancestral gene; e.g., integrins or immunoglobulins.

7 transmembrane domain

DEFINITION:

The seventh region (domain) of the transmembrane V2R. See schematic drawing of the V2R.

G protein

DEFINITION:

Any of a family of similar heterotrimeric proteins of the intracellular portion of the plasma membrane that bind activated receptor complexes and, through conformational changes and cyclic binding and hydrolysis of GTP, directly or indirectly effect alterations in channel gating and so couple cell surface receptors to intracellular responses. Some G proteins are named for their activities, e.g., G_s stimulates and G_I inhibits enzyme activity.

coupled

DEFINITION:

See coupling.

receptor

DEFINITION:

1. A molecular structure within a cell or on the surface characterized by (1) selective binding of a specific substance and (2) a specific physiologic effect that accompanies the binding, e.g., membrane receptors for peptide hormones, neurotransmitters, antigens, complement fragments, and immunoglobulins and nuclear receptors for steroid hormones.

2. A sensory nerve terminal that responds to stimuli of various kinds; classified in various ways including by the type of stimulus and by the location in the body.

V2 receptor - The structure to which the antidiuretic hormone, arginine vasopressin binds.

linked

DEFINITION:

In genetics, pertaining to linkage (def. 2); See also X-linked under gene .

inheritance

DEFINITION:

1. The acquisition of characters or qualities by transmission from parent to offspring.
2. That which is transmitted from parent to offspring.

NDI

DEFINITION:

Nephrogenic diabetes insipidus.

mutation

DEFINITION:

1. A change in form, quality, or some other characteristic.

2. In genetics, a permanent transmissible change in the genetic material, usually in a single gene.

frameshift mutation - A mutation resulting from an addition or subtraction that is not an exact multiple of 3 base pairs in a coding sequence. From the point of mutation onwards, base triplets (codons) are read out of phase; the reading frame of the gene is changed, and a completely different set of amino acids is made into protein.

loss-of-function mutation - Impairment of the function of a gene caused by mutation.

missense mutation - A mutation that changes a codon so that it codes for a different amino acid.

nonsense mutation - A mutation in which one of the three terminator codons in the mRNA (UAG, amber; UAA, ochre; UGA, umber or opal), used to signal the end of a polypeptide, appears in the middle of a genetic message, causes premature termination of transcription, and releases incomplete, generally nonfunctional polypeptides from the ribosome.

point mutation - A mutation resulting from a change in a single base pair in the DNA molecule, caused by the substitution of one nucleotide for another.

aquaporin-2 gene

DEFINITION:

The segment of a DNA molecule that contains all the information required for synthesis of aquaporin-2.

encoding

DEFINITION:

The process of converting (as a body of information) from one system of communication into another; esp.: to convert (a message) into code.

water channel

DEFINITION:

A channel in the plasma membrane of plant and animal cells that permits passage of water molecules; chemical substances such as vasopressin cause the opening of new channels and increase permeability.

renal collecting duct

DEFINITION:

Also known as the tubulus renalis colligens, or renal collecting tubule: That structure of the kidney consisting of the arcuate renal tubule, straight collecting tubule, and papillary duct considered together.

autosomal recessive

DEFINITION:

In genetics, pertaining to incapability of expression unless the responsible allele is carried by both members of a pair of homologous chromosomes.

NDI

DEFINITION:

Nephrogenic diabetes insipidus.