CareLit Fachartikel
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) caused by a gain-of-function mutation in the vasopressin V2 receptor gene
M Hansen, V Frank, M Schröder, K Latta, C Bergmann · Klinische Pädiatrie · 2011 · Heft 03
Dokument
1139710
CareLit-ID
Jahr
2011
Publikation
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Metadaten
DOI
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Zusammenfassung
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, after fluid infusion it declined to 126 mmol/l. High amounts of NaCl (about 9 mmol/kg) had to be continuously substituted. Her low serum osmolarity (273 mosmol/l) was in contrast to high urine osmola…
Schlagworte
AVPR2 gain of function mutation
NSIAD
nephrogenic syndrome of inapproriate antidiuresis
After
Bronchitis
Diagnosis
Allele
Klinische Pädiatrie
