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  • 1
    Electronic Resource
    Electronic Resource
    Evidence for intact V1-vasopressin receptors in congenital nephrogenic diabetes insipidus (1992)
    Springer
    European journal of pediatrics 151 (1992), S. 381-383 
    Details
    ISSN: 1432-1076
    Keywords: Nephrogenic diabetes insipidus ; Platelets ; Vasopressin receptor-Kd-Bmax
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The binding of tritium-labelled arginine vasopressin to human platelet vasopressin receptors was investigated in patients with congenital nephrogenic diabetes insipidus. Binding characteristics, that is receptor affinity and the maximum number of binding sites, were not significantly different from those found in normal control individuals. The findings confirm the concept of intact V1 receptors in congenital nephrogenic diabetes insipidus. The defect in nephrogenic diabetes insipidus apparently only affects the cyclic adenosine monophosphate dependent V2 receptors.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02113263
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    A variant of nephrogenic diabetes insipidus: V2 receptor abnormality restricted to the kidney (1991)
    Springer
    European journal of pediatrics 150 (1991), S. 370-373 
    Details
    ISSN: 1432-1076
    Keywords: Nephrogenic diabetes insipidus ; Heterogeneity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In congenital nephrogenic diabetes insipidus (NDI) blunted responses of plasma factor VIII, von Willebrand factor, and plasminogen activator to the synthetic V2 analogue 1-desamino-8-d-arginine vasopressin (DDAVP) have been reported. In addition, vasodilatory responses to DDAVP appear to be absent in NDI. We describe a boy, who presented shortly after birth with the typical features of NDI, but who showed normal coagulation, fibrinolytic and vasodilatory responses to DDAVP. We conclude that in this patient the defect is confined to the kidney, while in other NDI patients there may be a general V2 receptor abnormality. These findings point to heterogeneity in NDI.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01955943
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Three-point linkage analysis using multiple DNA polymorphic markers in families with X-linked nephrogenic diabetes insipidus
    Amsterdam : Elsevier
    Genomics 4 (1989), S. 434-437 
    Details
    ISSN: 0888-7543
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1016/0888-7543(89)90352-2
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Nephrogenic diabetes insipidus: close linkage with markers from the distal long arm of the human X chromosome (1988)
    Springer
    Human genetics 〈Berlin〉 80 (1988), S. 31-38 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Ten families with nephrogenic diabetes insipidus (NDI) have been analysed for restriction fragment length polymorphisms (RFLPs). A search for linkage was performed using various chromosome-specific single-copy DNA probes of known regional assignment to the human X chromosome. Close linkage was found between the disease locus and the markers DXS52, DXS15, DXS134 and the F8 gene. This result assigns the NDI gene to the subtelomeric region of the long arm of the X chromosome. The regional localization of the gene by the identification of closely linked markers should have repercussions for genetic counselling and prevention in NDI families.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00451451
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  • 5
    Electronic Resource
    Electronic Resource
    Nephrogenic diabetes insipidus: clinical symptoms, pathogenesis, genetics and treatment (1992)
    Springer
    Pediatric nephrology 6 (1992), S. 476-482 
    Details
    ISSN: 1432-198X
    Keywords: Nephrogenic diabetes inspidus ; V2 receptor ; X chromosomal localization ; Amiloride
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This review summarizes various aspects of the inherited kidney disorder nephrogenic diabetes insipidus (NDI). The clinical manifestations of the disease are presented. The important role of the genetic localization of the NDI gene to the X-chromosome long arm, in region Xq28, for carrier detection and early (prenatal) diagnosis of the disorder is emphasized. Following an overview of the cellular physiology involved in the antidiuretic action of vasopressin, possible mechanisms in the pathogenesis of NDI are discussed. We hypothesize that NDI is most probably due to the absence or abnormality of the renal V2 receptor. This assumption is strengthened by recent findings in receptor studies, which indicate a general V2 receptor defect in NDI, and in experiments with somatic cell hybrid cell lines, which are consistent with a co-localization of the genes for NDI and for the V2 receptor in the Xq28 region. Finally, the efficacy of the combination amiloride-hydrochlorothiazide, compared with the indomethacin-hydrochlorothiazide regimen, in the treatment of NDI is presented and the advantages of the former combination are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00874020
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  • 6
    Electronic Resource
    Electronic Resource
    Nephrogenic diabetes insipidus: identification of the genetic defect (1993)
    Springer
    Pediatric nephrology 7 (1993), S. 685-688 
    Details
    ISSN: 1432-198X
    Keywords: Nephrogenic diabetes insipidus ; V2 receptor gene ; Point mutations
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Congenital nephrogenic diabetes insipidus (NDI) is an X-linked inherited disorder characterized by renal resistance to the antidiuretic hormonal action of arginine vasopressin. The disease gene has been assigned to the subtelomeric region of the X chromosome long arm by demonstrating close linkage between NDI and several X-chromosomal DNA markers. The finding of closely linked genetic markers is useful in the diagnosis of NDI. Receptor studies in patients have indicated that NDI might be due to the absence or an abnormality of the adenylate cyclase-bound vasopressin type 2 receptor. This assumption was supported by the discovery of functional vasopressin V2 receptor activity in somatic cell hybrid cell lines that carried at least the distal part of the human X chromosome long arm. Definite evidence for a V2 receptor defect being the cause of NDI was found in a recent study demonstrating point mutations in the V2 receptor gene from affected individuals. Direct mutation analysis is now applicable for accurate carrier detection and early (prenatal) diagnosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00852579
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    Paper (German National Licenses)
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