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A novel mutation in the vasopressin V2 receptor gene in a woman with congenital nephrogenic diabetes insipidus. 1999

K Sato, and H Fukuno, and T Taniguchi, and S Sawada, and T Fukui, and M Kinoshita
Anan Central Medical Association Hospital, Tokushima.

A 56-year-old Japanese woman with congenital nephrogenic diabetes insipidus (CNDI) is reported. She was diagnosed with CNDI accompanied by advanced gastric cancer. After total gastrectomy, approximately 500 ml fluid per hour was necessary to prevent dehydration. Urinary volume was decreased by administration of hydrochlorothiazide. We detected a novel mutation in the vasopressin V2 receptor gene of her chromosomal DNA. A substitution from G to A was found at the 631 nucleotide position, altering codon 12 from glycine (GGG) to glutamic acid (GAG) in the first extracellular domain. This missense mutation appeared to be the cause of her resistance to arginine vasopressin.

UI MeSH Term Description Entries
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D012076 Renal Agents Drugs used for their effects on the kidneys' regulation of body fluid composition and volume. The most commonly used are the diuretics. Also included are drugs used for their antidiuretic and uricosuric actions, for their effects on the kidneys' clearance of other drugs, and for diagnosis of renal function. Agents, Renal
D004351 Drug Resistance Diminished or failed response of an organism, disease or tissue to the intended effectiveness of a chemical or drug. It should be differentiated from DRUG TOLERANCE which is the progressive diminution of the susceptibility of a human or animal to the effects of a drug, as a result of continued administration. Resistance, Drug
D005260 Female Females
D005440 Fluid Therapy Therapy whose basic objective is to restore the volume and composition of the body fluids to normal with respect to WATER-ELECTROLYTE BALANCE. Fluids may be administered intravenously, orally, by intermittent gavage, or by HYPODERMOCLYSIS. Oral Rehydration Therapy,Rehydration,Rehydration, Oral,Oral Rehydration,Rehydration Therapy, Oral,Therapy, Fluid,Therapy, Oral Rehydration,Fluid Therapies,Oral Rehydration Therapies,Oral Rehydrations,Rehydration Therapies, Oral,Rehydrations,Rehydrations, Oral,Therapies, Fluid,Therapies, Oral Rehydration
D005770 Gastrointestinal Neoplasms Tumors or cancer of the GASTROINTESTINAL TRACT, from the MOUTH to the ANAL CANAL. Gastrointestinal Cancer,Cancer of Gastrointestinal Tract,Cancer of the Gastrointestinal Tract,Neoplasms, Gastrointestinal,Cancer, Gastrointestinal,Cancers, Gastrointestinal,Gastrointestinal Cancers,Gastrointestinal Neoplasm,Gastrointestinal Tract Cancer,Gastrointestinal Tract Cancers,Neoplasm, Gastrointestinal
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000595 Amino Acid Sequence The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION. Protein Structure, Primary,Amino Acid Sequences,Sequence, Amino Acid,Sequences, Amino Acid,Primary Protein Structure,Primary Protein Structures,Protein Structures, Primary,Structure, Primary Protein,Structures, Primary Protein
D001127 Arginine Vasopressin The predominant form of mammalian antidiuretic hormone. It is a nonapeptide containing an ARGININE at residue 8 and two disulfide-linked cysteines at residues of 1 and 6. Arg-vasopressin is used to treat DIABETES INSIPIDUS or to improve vasomotor tone and BLOOD PRESSURE. Argipressin,Vasopressin, Arginine,Arg-Vasopressin,Argipressin Tannate,Arg Vasopressin

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