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Nephrogenic Diabetes Insipidus

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421. Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus

Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies (...) before adding more. Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our for details. ClinicalTrials.gov Identifier: NCT00004360 Recruitment Status : Completed First Posted : October 19, 1999 Last Update Posted : June 24, 2005 Sponsor: National Center for Research

1999 Clinical Trials

422. Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus. (PubMed)

Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus. Mutations in the Aquaporin-2 gene, which encodes a renal water channel, have been shown to cause autosomal nephrogenic diabetes insipidus (NDI), a disease in which the kidney is unable to concentrate urine in response to vasopressin. Most AQP2 missense mutants in recessive NDI are retained in the endoplasmic reticulum (ER), but AQP2-T125M and AQP2-G175R were

2002 Journal of the American Society of Nephrology

423. Aminoglycoside pretreatment partially restores the function of truncated V(2) vasopressin receptors found in patients with nephrogenic diabetes insipidus. (PubMed)

Aminoglycoside pretreatment partially restores the function of truncated V(2) vasopressin receptors found in patients with nephrogenic diabetes insipidus. By screening patients with X-linked nephrogenic diabetes insipidus (NDI) for mutations within the V(2) vasopressin receptor (AVPR2) gene, we have identified six novel and two recurrent mutations. Additionally, one patient revealed a genomic deletion of 3.2 kb encompassing most of the AVPR2 gene and the last exon/3'-region of C1 gene, which

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2002 Journal of Clinical Endocrinology and Metabolism

424. Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus. (PubMed)

Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus. Nephrogenic diabetes insipidus (NDI) is most often an X-linked disorder in which urine is not concentrated due to renal resistance to arginine vasopressin. We recently identified four vasopressin type 2 receptor gene mutations in unrelated X-linked NDI families, including R143P, delta V278, R202C, and 804insG. All these mutations reduced

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1995 Journal of Clinical Investigation

425. Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus. (PubMed)

Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus. Mutations in the AVPR2 gene encoding the receptor for arginine vasopressin in the kidney (V2 ADHR) have been reported in patients with congenital nephrogenic diabetes insipidus, a predominantly X-linked disorder of water homeostasis. We have used restriction-enzyme analysis and direct DNA sequencing of genomic PCR product to evaluate the AVPR2 gene in 11 unrelated affected males. Each patient has a different DNA (...) sequence variation, and only one matches a previously reported mutation. Cosegregation of the variations with nephrogenic diabetes insipidus was demonstrated for two families, and a de novo mutation was documented in two additional cases. Carrier detection was accomplished in one family. All the variations predict frameshifts, truncations, or nonconservative amino acid substitutions in evolutionarily conserved positions in the V2 ADHR and related receptors. Of interest, a 28-bp deletion is found in one

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1994 American Journal of Human Genetics

426. Nature and Recurrence of AVPR2 Mutations in X-linked Nephrogenic Diabetes Insipidus (PubMed)

Nature and Recurrence of AVPR2 Mutations in X-linked Nephrogenic Diabetes Insipidus X-linked nephrogenic diabetes insipidus (NDI) is a rare disease with defective renal and extrarenal arginine-vaso-pressin V2 receptor responses due to mutations in the AVPR2 gene in Xq28. We analyzed 31 independent NDI families to determine the nature and recurrence of AVPR2 mutations. Twenty-one new putative disease-causing mutations were identified: 113delCT, 253del35, 255de19, 274insG, V88M, R106C, 402delCT

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1994 American Journal of Human Genetics

427. Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene. (PubMed)

Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene. Mutations in the X-chromosomal V2 receptor gene are known to cause nephrogenic diabetes insipidus (NDI). Besides the X-linked form, an autosomal mode of inheritance has been described. Recently, mutations in the autosomal gene coding for water-channel aquaporin 2 (AQP2) of the renal collecting duct were reported in an NDI patient. In the present study, missense mutations

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1994 American Journal of Human Genetics

428. Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones. (PubMed)

Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones. Five single-point aquaporin-2 (AQP2) mutations that cause non-X-linked nephrogenic diabetes insipidus (NDI) were characterized to establish the cellular defect and to develop therapeutic strategies. In Xenopus oocytes expressing AQP2 cRNAs, single-channel water permeabilities of mutants L22V, T126M, and A147T were similar to that of wild-type AQP2, whereas R187C and C181W were

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1998 Journal of Clinical Investigation

429. Treatment of nephrogenic diabetes insipidus with hydrochlorothiazide and amiloride (PubMed)

Treatment of nephrogenic diabetes insipidus with hydrochlorothiazide and amiloride Nephrogenic diabetes insipidus (NDI) is characterised by the inability of the kidney to concentrate urine in response to arginine vasopressin. The consequences are severe polyuria and polydipsia, often associated with hypertonic dehydration. Intracerebral calcification, seizures, psychosomatic retardation, hydronephrosis, and hydroureters are its sequelae. In this study, four children with NDI were treated with 3

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1999 Archives of Disease in Childhood

430. Effect of DDAVP on nocturnal enuresis in a patient with nephrogenic diabetes insipidus (PubMed)

Effect of DDAVP on nocturnal enuresis in a patient with nephrogenic diabetes insipidus The case of an 8 year old boy with both nocturnal enuresis and nephrogenic diabetes insipidus is presented. Diagnosis of nephrogenic diabetes insipidus was based on a typical medical history, the characteristic result of a fluid restriction test, the lack of an effect of 1-desamino-8-D-arginine (DDAVP) on both urine osmolality and plasma coagulation factors and, finally, the detection of a hemizygous missense

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1999 Archives of Disease in Childhood

431. Unsuspected nephrogenic diabetes insipidus (PubMed)

Unsuspected nephrogenic diabetes insipidus 11451787 2001 08 16 2018 11 13 0959-8138 323 7304 2001 Jul 14 BMJ (Clinical research ed.) BMJ Unsuspected nephrogenic diabetes insipidus. 96-7 Waise A A Endocrine Clinic, Friarage Hospital, Northallerton, North Yorkshire DL6 1JG. awaise@nahs-tr.northy.nhs.uk Fisken R A RA eng Case Reports Journal Article England BMJ 8900488 0959-8138 0 Antimanic Agents 2BMD2GNA4V Lithium Carbonate AIM IM Aged Antimanic Agents adverse effects Diabetes Insipidus (...) , Nephrogenic chemically induced diagnosis Female Hospitalization Humans Lithium Carbonate adverse effects Male Middle Aged Water-Electrolyte Balance 2001 7 14 10 0 2001 8 17 10 1 2001 7 14 10 0 ppublish 11451787 PMC1120756 Scott Med J. 1997 Feb;42(1):16-7 9226773 Am J Med. 1975 Aug;59(2):153-7 168770 Psychol Med. 1989 Nov;19(4):825-31 2687916 Ann Intern Med. 1977 Apr;86(4):446-7 848808 Q J Med. 1984 Summer;53(211):369-79 6484119 Kidney Int. 1976 Jul;10(1):82-95 181631

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2001 BMJ : British Medical Journal

432. Three Families with Autosomal Dominant Nephrogenic Diabetes Insipidus Caused by Aquaporin-2 Mutations in the C-Terminus (PubMed)

Three Families with Autosomal Dominant Nephrogenic Diabetes Insipidus Caused by Aquaporin-2 Mutations in the C-Terminus The vasopressin-regulated water channel aquaporin-2 (AQP2) is known to tetramerize in the apical membrane of the renal tubular cells and contributes to urine concentration. We identified three novel mutations, each in a single allele of exon 4 of the AQP2 gene, in three families showing autosomal dominant nephrogenic diabetes insipidus (NDI). These mutations were found

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2001 American Journal of Human Genetics

433. Cellular Action of Vasopressin in Medullary Tubules of Mice with Hereditary Nephrogenic Diabetes Insipidus (PubMed)

Cellular Action of Vasopressin in Medullary Tubules of Mice with Hereditary Nephrogenic Diabetes Insipidus Our previous studies (1974. J. Clin. Invest.54: 753-762.) suggested that impaired metabolism of cyclic AMP (cAMP) may be involved in the renal unresponsiveness to vasopressin (VP) in mice with hereditary nephrogenic diabetes insipidus (NDI). To localize such a defect to specific segments of the nephron, we studied the activities of VP-sensitive adenylate cyclase, cAMP phosphodiesterase

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1980 Journal of Clinical Investigation

434. Autosomal dominant hypoparathyroidism: a proband with concurrent nephrogenic diabetes insipidus. (PubMed)

Autosomal dominant hypoparathyroidism: a proband with concurrent nephrogenic diabetes insipidus. In this paper we report an extended family with well documented autosomal dominant hypoparathyroidism which was ascertained through a proband with coincident nephrogenic diabetes insipidus. Clinical findings were limited to a slight decrease in overall stature and to clinical signs of hypocalcaemia. Intelligence was normal and two patients were asymptomatic. Published reports have established

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1981 Journal of Medical Genetics

435. Nephrogenic diabetes insipidus and intracerebral calcification. (PubMed)

Nephrogenic diabetes insipidus and intracerebral calcification. Three children who presented with two rare conditions, nephrogenic diabetes insipidus and intracerebral calcification, were studied. The lack of evidence for the presence of a metabolic defect other than nephrogenic diabetes insipidus suggests that it can lead to the development of intracerebral calcification. Perhaps the main risk factor is inadequate fluid intake during early infancy.

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1990 Archives of Disease in Childhood

436. Pathogenesis of nephrogenic diabetes insipidus due to chronic administration of lithium in rats. (PubMed)

Pathogenesis of nephrogenic diabetes insipidus due to chronic administration of lithium in rats. A polyuric syndrome with nephrogenic diabetes insipidus (NDI) is a frequent consequence of prolonged administration of lithium (Li) salts. Studies in the past, mainly the acute and in vitro experiments, indicated that Li ions can inhibit hydroosmotic effect of [8-arginine]vasopressin (AVP) at the step of cAMP generation in vitro. However, the pathogenesis of the NDI due to chronic oral (...) accumulation in MCT and PCD after incubation with forskolin was markedly lower in Li-treated rats. Addition of 0.5 mM 1-methyl,3-isobutyl-xanthine did not restore the cAMP accumulation in response to AVP and forskolin in MCT from Li-treated animals. In collecting tubule segments from polyuric rats with hypothalamic diabetes insipidus (Brattleboro homozygotes) the AVP-dependent cAMP accumulation was not diminished. The activity of adenylate cyclase (AdC) in MCT of Li-treated rats, both the basal

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1985 Journal of Clinical Investigation

437. X-linked nephrogenic diabetes insipidus: From the ship hopewell to RFLP studies (PubMed)

X-linked nephrogenic diabetes insipidus: From the ship hopewell to RFLP studies Nephrogenic diabetes insipidus (NDI; designated 304800 in Mendelian Inheritance in Man) is an X-linked disorder with abnormal renal and extrarenal V2 vasopressin receptor responses. The mutant gene has been mapped to Xq28 by analysis of RFLPs, and tight linkage between DXS52 and NDI has been reported. In 1969, Bode and Crawford proposed, under the term "the Hopewell hypothesis," that most cases in North America

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1992 American Journal of Human Genetics

438. X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis. (PubMed)

X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis. In X-linked nephrogenic diabetes insipidus (NDI) the urine of male patients is not concentrated after the administration of the antidiuretic hormone arginine-vasopressin. This disease is due to mutations in the V2 receptor gene that maps to chromosome region Xq28. In 1969, Bode and Crawford suggested that most NDI patients in North America shared common ancestors of Ulster Scot immigrants who arrived

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1993 Journal of Clinical Investigation

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