CareLit · DOI-Nachweis · Klinische Pädiatrie
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) caused by a gain-of-function mutation in the vasopressin V2 receptor gene
DOI 10.1055/s-0031-1273868
Bibliografische Angaben
Nachweis in CareLit
Autor:innenM Hansen, V Frank, M Schröder, K Latta, C Bergmann
ZeitschriftKlinische Pädiatrie
Ausgabe03/2011
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
NSIAD is an X-linked disorder of water/electrolyte balance caused by an AVPR2 gain-of-function mutation that leads to constitutive activation of the encoded vasopressin V2 receptor. Defective urine dilution results in eu-/hypervolemic hyponatremia, resembling SIADH. We report a turkish family with NSIAD. Index case was a 6 months old girl hospitalised for obstructive bronchitis. Initial serum natrium was 131 mmol/l,…
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Zitierempfehlung
M Hansen, V Frank, M Schröder, K Latta, C Bergmann (2011) Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) caused by a gain-of-function mutation in the vasopressin V2 receptor gene. Klinische Pädiatrie (03). https://doi.org/10.1055/s-0031-1273868
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