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  • Nephrogenic diabetes insipidus  (3)
  • 1
    Digitale Medien
    Digitale Medien
    Nephrogenic diabetes insipidus: identification of the genetic defect (1993)
    Springer
    Pediatric nephrology 7 (1993), S. 685-688 
    Details
    ISSN: 1432-198X
    Schlagwort(e): Nephrogenic diabetes insipidus ; V2 receptor gene ; Point mutations
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: 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.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00852579
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    Digitale Medien
    Digitale Medien
    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
    Schlagwort(e): Nephrogenic diabetes insipidus ; Platelets ; Vasopressin receptor-Kd-Bmax
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: 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.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF02113263
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  • 3
    Digitale Medien
    Digitale Medien
    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
    Schlagwort(e): Nephrogenic diabetes insipidus ; Heterogeneity
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: 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.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF01955943
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