nephrogenic diabetes insipidus

DEFINITION:

A syndrome of polyuria and hyposthenuria caused by the 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. It may be inherited as a rare X-linked trait or be acquired as a result of drug therapy or systemic disease.

NDI

DEFINITION:

Nephrogenic diabetes insipidus.

characterized

DEFINITION:

Marked or distinguished as a characteristic.

kidneys

DEFINITION:

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.

arginine vasopressin

DEFINITION:

Vasopressin containing arginine, as that from most mammals, including man.

AVP

DEFINITION:

Arginine vasopressin.

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.

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).

V2

DEFINITION:

Vasopressin-2. See vasopressin-2 gene and vasopressin-2 receptor.

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.

missense mutations

DEFINITION:

See under mutations.

V2 receptor

DEFINITION:

See under receptor .

mutant receptors

DEFINITION:

Molecular structures within or on the surface of cells which do not bind with the specific substance for which they are intended, or do not cause the specific physiologic effect that accompanies that binding. See receptor.

ligand binding

DEFINITION:

See "ligand."

novel

DEFINITION:

Of a new kind, or different from anything seen or known before.

V2 receptor

DEFINITION:

See under receptor .

gene

DEFINITION:

A segment of a DNA molecule that contains all the information required for synthesis of a product (polypeptide chain or RNA molecule), including both coding and non-coding sequences. It is the biological unit of heredity, self-reproducing, and transmitted from parent to progeny. Each gene has a specific position (locus) on the chromosome map. From the standpoint of function, genes are conceived of as structural, operator, and regulatory genes.

wild-type gene - The normal allele of a gene, sometimes symbolized by +.

X-linked gene - A gene carried on the X chromosome; the corresponding trait, whether dominant or recessive, is always expressed in males, who have only one X chromosome. X linkage is used sometimes synonymously with sex linkage since no genetic disorders have as yet been associated with genes on the Y chromosome.

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.

cysteine

DEFINITION:

Chemical name: 2-amino-3-mercaptopropanoic acid. A sulfur-containing nonessential amino acid produced by the enzymatic or acid hydrolysis of proteins. It is easily oxidized to cystine, is sometimes found in the urine, and has limited detoxification properties. Symbols Cys and C.

V2 receptor

DEFINITION:

See under receptor .

congenital NDI

DEFINITION:

Congenital nephrogenic diabetes insipidus. A condition of the kidneys existing at birth.

functional analysis

DEFINITION:

Determining the function or characteristic behaviors of component parts of a substance.

binding

DEFINITION:

1. Wrapping with a binder or bandage.

2. Forming a weak, reversible chemical bond, e.g., antigen to antibody or hormone to receptor.

capacity

DEFINITION:

1. Power or ability to hold, retain, or contain, or the ability to absorb.

2. The volume or potential volume of material (solid, liquid, or gas) that can be held or contained.

3. Capacitance.

4. Mental ability to receive, accomplish, endure, or understand.

mutant

DEFINITION:

1. A gene or organism that has undergone genetic mutation.

wild type

DEFINITION:

In genetics, the standard phenotype for any experimental organism; also a gene that determines a standard phenotypic trait. See also under gene .

wild type

DEFINITION:

In genetics, the standard phenotype for any experimental organism; also a gene that determines a standard phenotypic trait. See also under gene .

AVP

DEFINITION:

Arginine vasopressin.

cAMP

DEFINITION:

Cyclic AMP (cyclic adenosine monophosphate).

wild type

DEFINITION:

In genetics, the standard phenotype for any experimental organism; also a gene that determines a standard phenotypic trait. See also under gene .

mutant

DEFINITION:

1. A gene or organism that has undergone genetic mutation.

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.

serine

DEFINITION:

A naturally occurring, nonessential amino acid, 2-amino-3-hydroxypropionic acid; it may be synthesized from glycine, and is used as a dietary supplement and feed additive, in biological studies and tests, and in culture media. Symbol Ser.

model

DEFINITION:

1. Something that represents or simulates something else; a replica.
2. A reasonable facsimile of the body or any of its parts; used for demonstration and teaching purposes.
3. Cast, definition 5.
4. To imitate another's behavior; See modeling .
5. A hypothesis or theory.

modified

DEFINITION:

Descriptive of an object or substance that has been changed in form or characteristics.

mutant

DEFINITION:

1. A gene or organism that has undergone genetic mutation.

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.

binding

DEFINITION:

1. Wrapping with a binder or bandage.

2. Forming a weak, reversible chemical bond, e.g., antigen to antibody or hormone to receptor.

capacity

DEFINITION:

1. Power or ability to hold, retain, or contain, or the ability to absorb.

2. The volume or potential volume of material (solid, liquid, or gas) that can be held or contained.

3. Capacitance.

4. Mental ability to receive, accomplish, endure, or understand.

wild type

DEFINITION:

In genetics, the standard phenotype for any experimental organism; also a gene that determines a standard phenotypic trait. See also under gene .

cAMP

DEFINITION:

Cyclic AMP (cyclic adenosine monophosphate).

wild type

DEFINITION:

In genetics, the standard phenotype for any experimental organism; also a gene that determines a standard phenotypic trait. See also under gene .

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.

V2 receptor

DEFINITION:

See under receptor .

NDI

DEFINITION:

Nephrogenic diabetes insipidus.

AVP

DEFINITION:

Arginine vasopressin.

ligand binding

DEFINITION:

See "ligand."

adenylyl cyclase

DEFINITION:

A membrane-bound enzyme that catalyzes the formation of cyclic AMP from ATP. An important component of some intracellular signaling pathways.

activation

DEFINITION:

1. The act or process of rendering active.

2. The transformation of a proenzyme into an active enzyme by the action of a kinase or another proenzyme.

3. Gain in the purifying of sewage by means of activated sludge.

4. The process by which the central nervous system is stimulated into activity through the mediation of the reticular activating system.

5. The deliberate induction of a pattern of electrical activity in the brain in electroencephalography.

V2 receptor

DEFINITION:

See under receptor .

mutant

DEFINITION:

1. A gene or organism that has undergone genetic mutation.

permission

DEFINITION:

Formal consent; authorization.