Hyponatremia resulting from Arginine Vasopressin Receptor 2 gene mutation

Bes, David; Mendilaharzu, H; Fenwick, Raymond G.; Arrizurieta, Elvira

doi:10.1007/s00467-006-0344-7

Cited by 27 publications

(19 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…By comparison with ‘classical’ SIADH, the excellent efficacy of these treatments in avoiding episodes of hyponatremia is quite unexpected. Indeed, NSIAD is often characterized by marked antidiuresis as evidenced by elevated Uosm, sometimes higher than 1,000 mosm/kg [4,5] with a maximal reported value of 1,467 mosm/kg [8]. In ‘classical’ SIADH, the efficacy of conventional doses of urea (e.g.…”

Section: Discussionmentioning

confidence: 99%

Long-Term Treatment of Hyponatremic Patients with Nephrogenic Syndrome of Inappropriate Antidiuresis: Personal Experience and Review of Published Case Reports

et al. 2012

View full text Add to dashboard Cite

Background: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a disorder of water balance linked to gain-of-function mutation of arginine vasopressin receptor type 2 (AVPR2) resulting in free water reabsorption and episodes of hyponatremia. Aims: To review the long-term treatment of NSIAD. Methods: In the first part of this paper, we report 3 cases of male patients presenting with hyponatremia due to NSIAD. The second part consists of a comprehensive review of all published case reports. Results: In our experience, long-term fluid restriction (FR) and treatment with low doses of urea are efficient and well tolerated. Episodic intake of urea seems sufficient in some patients. Treatment data were available for 13 of the 16 hyponatremic patients reported in the literature. Each of these 13 patients had regulated fluid intake. Six of the patients received urea with no reported failure to correct hyponatremia and 5 received NaCl supplementation with varying efficacy. The AVPR2 antagonists tolvaptan and satavaptan (prescribed before the diagnosis of NSIAD was made) showed no efficacy in 1 patient. Conclusions: NSIAD is quite easy to treat with FR and urea in adults as well as in children, with good compliance and efficacy. Of note, FR is well tolerated, suggesting that NSIAD may differ from other causes of syndrome of inappropriate antidiuretic hormone secretion by reduction of thirst intensity due to lower levels of AVP (which stimulates thirst). In eventual refractory cases, furosemide (associated with NaCl supplementation) would represent a valuable therapeutic option by analogy of its efficacy in syndrome of inappropriate antidiuretic hormone secretion.

show abstract

Section: Discussionmentioning

confidence: 99%

Long-Term Treatment of Hyponatremic Patients with Nephrogenic Syndrome of Inappropriate Antidiuresis: Personal Experience and Review of Published Case Reports

et al. 2012

View full text Add to dashboard Cite

show abstract

“…This syndrome is characterised by clinical and laboratory features typical of inappropriate antidiuretic hormone secretion (SIADH) [2][3][4][5] in the presence of undetectable arginine vasopressin (AVP) levels [6]. Additional cases of the syndrome were subsequently reported in another infant and in three adult male individuals [7,8].…”

Section: Introductionmentioning

confidence: 99%

Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis

Marcialis

Faà²,

Fanos

et al. 2008

Pediatr Nephrol

View full text Add to dashboard Cite

This paper describes the manifestation in a child of a new syndrome characterized by unusual, severe, persistent hyponatremia associated with hyposmolarity, euvolemia, inappropriately concentrated urine and elevated natriuresis. This is the fourth case of this syndrome reported to date, and the first to be reported in a neonate. The clinical features resemble those typically observed in patients with inappropriate antidiuretic hormone secretion, although high arginine vasopressin (AVP) levels are lacking. The findings led the authors to hypothesise a nephrogenic syndrome of inappropriate antidiuresis (NSIAD). The previously described R137C gain-of-function mutation was detected by means of mutation analysis of the V2R gene. Our results indicate that NSIAD is already present during the neonatal period and that molecular analysis of the V2R receptor should therefore be carried out, in all newborns with prolonged euvolemic hyponatremia with hypo-osmolarity, high urinary sodium and normal/low or undetectable AVP levels.

show abstract

“…Since this first description, 12 other pediatric cases have been reported, 11 being males and 1 of them being a 10-month-old female [1,3,5,6,7,8,9]. Most patients carried mutations that led to the substitution of arginine 137 by either a cysteine or leucine (R137C/L), and only 1 recently reported patient carried a mutation leading to phenylalanine 229 to valine (F229V) substitution in V2R [11].…”

Section: Discussionmentioning

confidence: 99%

“…Eleven reports of affected patients, among which 12 children, have been published so far [1,2,3,4,5,6,7,8,9,10,11,12]. …”

Section: Introductionmentioning

confidence: 99%

Nephrogenic Syndrome of Inappropriate Antidiuresis in a Female Neonate: Review of the Clinical Presentation in Females

Brachet

Vandergheynst²,

Heinrichs³

2015

Horm Res Paediatr

View full text Add to dashboard Cite

Background: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare X-linked disease due to gain-of-function mutations in the AVP V2 receptor gene. Hemizygous males present with recurrent episodes of severe hyponatremia in infancy. Heterozygous females are usually asymptomatic. Case Report: We report on a 23-day-old female neonate, born at term with 3,260 g that presented with recurrent hyponatremia (Na between 124 and 134 mmol/l) due to NSIAD. She was a heterozygous carrier of the c.409 C>T mutation in the AVPR2 gene. Conclusions: This is the first report of a female neonate presenting with hyponatremia due to NSIAD. The diagnosis of NSIAD should not be limited to male infants and should also be considered in female infants with the clinical picture of inappropriate antidiuresis.

show abstract

Hyponatremia resulting from Arginine Vasopressin Receptor 2 gene mutation

Cited by 27 publications

References 14 publications

Long-Term Treatment of Hyponatremic Patients with Nephrogenic Syndrome of Inappropriate Antidiuresis: Personal Experience and Review of Published Case Reports

Long-Term Treatment of Hyponatremic Patients with Nephrogenic Syndrome of Inappropriate Antidiuresis: Personal Experience and Review of Published Case Reports

Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis

Nephrogenic Syndrome of Inappropriate Antidiuresis in a Female Neonate: Review of the Clinical Presentation in Females

Contact Info

Product

Resources

About