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.

antidiuretic

DEFINITION:

1. Suppressing the rate of urine formation.

2. An agent that suppresses urine formation.

arginine vasopressin

DEFINITION:

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

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.

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.

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.

vasopressin V2 receptor

DEFINITION:

The molecular structure within a cell or on the surface to which the antidiuretic hormone, arginine vasopressin binds.

localized

DEFINITION:

Not general; restricted to a limited region or to one or more spots.

NDI

DEFINITION:

Nephrogenic diabetes insipidus.

missense mutations

DEFINITION:

See under mutations.

mutations

DEFINITION:

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

characterized

DEFINITION:

Marked or distinguished as a characteristic.

mutations

DEFINITION:

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

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.

de novo mutation

DEFINITION:

Definition has yet to be entered. Check back later.

mutations

DEFINITION:

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

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.

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.