Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis

Marcialis, Maria Antonietta; Faà, V.; Fanos, Vassilios; Pintus, Maria Cristina; Cao, Antonio; Rosatelli, C

doi:10.1007/s00467-008-0913-z

Cited by 32 publications

(21 citation statements)

References 15 publications

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“…Urea achieved normalization of SNa and was well tolerated. The same therapeutic protocol was used by Marcialis et al [9] and Cho et al [12] with good effect and tolerance. The latter study involved the treatment of a young patient over 18 months.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2012

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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.

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Section: Discussionmentioning

confidence: 99%

“…Treatment of NSIAD with furosemide has been tried only once in a newborn [9], which is not enough to evaluate its efficacy. Moreover, the efficacy of furosemide would probably be better evidenced in cases of highly concentrated urine, which cannot be observed in a newborn.…”

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

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“…Urea allowed the normalization of SNa and was well tolerated. The same therapeutic protocol was used by Marcialis et al [5] and Cho et al [6] with good effectiveness and tolerance. Cho et al treated their young patient for 18 months.…”

Section: Discussionmentioning

confidence: 99%

“…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%

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

Brachet

Vandergheynst²,

Heinrichs³

2015

Horm Res Paediatr

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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.

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G Protein-Coupled Receptor Mutations and Human Genetic Disease

Thompson

Hendy

Percy

et al. 2014

Methods in Molecular Biology

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Genetic variations in G protein-coupled receptor genes (GPCRs) disrupt GPCR function in a wide variety of human genetic diseases. In vitro strategies and animal models have been used to identify the molecular pathologies underlying naturally occurring GPCR mutations. Inactive, overactive, or constitutively active receptors have been identified that result in pathology. These receptor variants may alter ligand binding, G protein coupling, receptor desensitization and receptor recycling. Receptor systems discussed include rhodopsin, thyrotropin, parathyroid hormone, melanocortin, follicle-stimulating hormone (FSH), luteinizing hormone, gonadotropin-releasing hormone (GNRHR), adrenocorticotropic hormone, vasopressin, endothelin-β, purinergic, and the G protein associated with asthma (GPRA or neuropeptide S receptor 1 (NPSR1)). The role of activating and inactivating calcium-sensing receptor (CaSR) mutations is discussed in detail with respect to familial hypocalciuric hypercalcemia (FHH) and autosomal dominant hypocalemia (ADH). The CASR mutations have been associated with epilepsy. Diseases caused by the genetic disruption of GPCR functions are discussed in the context of their potential to be selectively targeted by drugs that rescue altered receptors. Examples of drugs developed as a result of targeting GPCRs mutated in disease include: calcimimetics and calcilytics, therapeutics targeting melanocortin receptors in obesity, interventions that alter GNRHR loss from the cell surface in idiopathic hypogonadotropic hypogonadism and novel drugs that might rescue the P2RY12 receptor congenital bleeding phenotype. De-orphanization projects have identified novel disease-associated receptors, such as NPSR1 and GPR35. The identification of variants in these receptors provides genetic reagents useful in drug screens. Discussion of the variety of GPCRs that are disrupted in monogenic Mendelian disorders provides the basis for examining the significance of common pharmacogenetic variants.

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Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis

Cited by 32 publications

References 15 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

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

G Protein-Coupled Receptor Mutations and Human Genetic Disease

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