This is the first report of a female neonate presenting with hyponatremia due to NSIAD. [ncbi.nlm.nih.gov]

Objective and hypotheses: Illustration of the presentation of a family with this genetic abnormality and approach to management. Method: The clinical, biochemical and genetic findings are presented. [abstracts.eurospe.org]

More data on currently well-documented reports of infants with NSIAD are presented in Table 1 [ 8–11 ]. Some conclusions can be gleaned from these data. [academic.oup.com]

• Camping

  Blocking endocytosis exacerbated the elevated basal cAMP levels promoted by R137C/L-V2R but not the cAMP production elicited by R137H-V2R, demonstrating that substitution of R137 to C/L, but not H, leads to constitutive V2R-stimulated cAMP accumulation [molpharm.aspetjournals.org]

  Blocking endocytosis exacerbated the elevated basal cAMP levels promoted by R137C/L-V2R but not the cAMP production elicited by R137H-V2R, demonstrating that substitution of Arg137 to Cys/Leu, but not His, leads to constitutive V2R-stimulated cAMP accumulation [ncbi.nlm.nih.gov]

  Transfection of the mutated S250I-Gsα in Gnas null cells demonstrated a greater accumulation in cAMP compared to the wild-type Gsa ( P =0.0004). [abstracts.eurospe.org]

  Basal Levels of cAMP Production in Cells Expressing Wild-Type and Mutant V2R. The ability of the mutant V2R from each patient to induce cAMP, as measured by a cAMP-inducible luciferase reporter, was evaluated. [nejm.org]

• Hunting

  Soule S, Florkowski C, Potter H, Pattison D, Swan M, Hunt P, et al: Intermittent severe, symptomatic hyponatraemia due to the nephrogenic syndrome of inappropriate antidiuresis. Ann Clin Biochem 2008;45:520-523. [karger.com]

  Pediatr Nephrol 2008; 23: 22672271. 10 Soule S, Florkowski C, Potter H, Pattison D, Swan M, Hunt P, et al: Intermittent severe, symptomatic hyponatremia due to nephro-genic syndrome of inappropriate antidiure-sis. [myslide.es]

  Khan A, McMurray JS, McCreery JM, Hunt HM. Carbamazepine and SIADH. Am J Psychiatry 1989;146:1639. 49. Björck E, Samuelsson J. [jbn.org.br]

• Advanced Bone Age

  She also had symptoms of androgen secretion (mild clitoral enlargement, pubic hair and advanced bone age, slightly elevated testosterone and sDHA levels). Adrenals were of normal size and shape on the CT-scan. [abstracts.eurospe.org]

• Neonatal Onset

  2008 2008 Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis Maria Antonietta Marcialis, Valeria Faà, +4 authors Maria Cristina Rosatelli Pediatric Nephrology 2008 This paper describes the manifestaton in a child of a new syndrome characterized [semanticscholar.org]

  1 Focus on neonatal and infantile onset of nephrogenic syndrome of inappropriate antidiuresis: 12A years later. ( 29546600 ) 2018 2 Adult female with symptomatic AVPR2-related nephrogenic syndrome of inappropriate antidiuresis (NSIAD). ( 29472987 ) Hague [malacards.org]

  Marcialis MA, Faà V, Fanos V, Puddu M, Pintus MC, Cao A, et al: Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis. Pediatr Nephrol 2008;23:2267-2271. [karger.com]

  Pediatr Nephrol 2007; 22: 463466. 9 Marcialis MA, Faa V, Fanos V, Puddu M, Pintus MC, Cao A: Neonatal onset of neph-rogenic syndrome of inappropriate antidi-uresis. [myslide.es]

• Irritability

  Phenotype Ontology (HPO) Abnormality of metabolism/homeostasis Hypernatriuria Hyponatremia Abnormality of the cardiovascular system Elevated systolic blood pressure Abnormality of the genitourinary system Hypernatriuria Abnormality of the nervous system Irritability [familydiagnosis.com]

  Summary Nephrogenic Syndrome of Inappropriate Antidiuresis, also known as nsiad,is related to diabetes insipidus and mononeuritis,and has symptoms including seizures, irritability and seizures. [selfdecode.com]

  Name Nephrogenic Syndrome Of Inappropriate Antidiuresis Synonyms - Classification genetic, renal Phenotypes Decreased circulating renin level ; Decreased serum creatinine ; Elevated systolic blood pressure ; Hypernatriuria ; Hyponatremia ; Irritability [mousephenotype.org]

  […] reported NSIAD patients Reference Mutation Age at presentation Clinical symptoms Serum sodium mmol/L Serum osmolality mOsm/kg Plasma AVP pg/mL Urine sodium mmol/L Urine osmolality mOsm/kg Feldman et al. [ 8 ] Codon 137 arginine to cysteine 3 months Irritability [academic.oup.com]

Neurologic workup was consistent with acute motor and sensory axonal neuropathy (AMSAN), a variant of Guillain-Barre syndrome. Concomitantly on admission, serum chemistry panel showed a sodium (Na) 115 mmol/L with normal kidney function. [pulmonarychronicles.com]

20-150 IU/L Uric Acid 4.6 mg/dl 2.5-5.5 mg/dl TSH 4.1 ng/dl 3-18 ng/dl T4 1.4 ng/dl 0.8-2.4 ng/dl ACTH 25-100pg/ml Renin 3.26 ng/ml/hr 2.9-24 ng/ml/hr Aldosterone 33.9 ng/dl 1-160 ng/dl Table 1: The pertinent laboratories values Special studies for workup [omicsonline.org]

[…] resonance imaging of the head (for detection of cerebral edema occurring as a complication of SIADH, for identification of a CNS disorder responsible for SIADH, or for helping to rule out other potential causes of a change in neurologic status) See Workup [emedicine.medscape.com]

• Staphylococcus Aureus

  Throat suction swab grew Staphylococcus aureus, which was treated with a two-week course of oral flucloxcillin. [ijpeonline.biomedcentral.com]

An effective treatment of NSIAD is available. It consists of fluid restriction and administration of oral urea. Reported experience with furosemide treatment in NSIAD is still lacking. [ncbi.nlm.nih.gov]

In fact, the treatment choice for SIAD depends on Uosm. [myslide.es]

Management and treatment Treatment of NSIAD is lifelong. Fluid restriction is the cornerstone of treatment. It is generally sufficient to avoid episodes of hyponatremia and is well tolerated (good compliance). [orpha.net]

The constitutive signalling of R137C/L-V2R was not inhibited by treatment with the V2R inverse agonist SR121463. [molpharm.aspetjournals.org]

Prognosis The prognosis of NSAID is good, if episodes of severe hyponatremia are avoided. The documents contained in this web site are presented for information purposes only. [orpha.net]

Outlook (Prognosis) If a person drinks enough water, this condition will not have much effect on the fluid or electrolyte balance of the body. Sometimes, passing a lot of urine for a long time can cause other electrolyte problems. [umms.org]

Women appear to be more prone to drug-induced hyponatremia and to exercise-induced hyponatremia (marathon runners), although this may be an association with low body weight rather than sex. [5] Prognosis The prognosis of SIADH correlates with the underlying [emedicine.medscape.com]

We have elaborated two complementary strategies to treat SIADH-induced hyponatremia in an attempt to increase awareness of its importance, simplify its therapy, and improve prognosis. [revistanefrologia.com]

ODS is associated with poor prognosis. Few case reports suggest benefit from early relowering of serum sodium. Supportive treatment to prevent aspiration pneumonia and ventilatory care are needed. Plasmapheresis [44] may also be beneficial. [ijem.in]

"[Etiology, diagnostics and therapy of hyponatremias]". Orv Hetil. 149 (29): 1347–54. doi : 10.1556/OH.2008.28409. PMID 18617466. ↑ Clayton, JA.; Le Jeune, IR.; Hall, IP. (2006). [wikidoc.org]

Etiology NSIAD is due to a gain of function mutation in the type 2 AVP receptor ( AVPR2 ) gene (location Xq28), thus representing the mirror image of nephrogenic diabetes insipidus (see this term). [orpha.net]

Volume depletion caused by diuretic induces ADH secretion. [4] Etiology central nervous system disorders [5] meningitis, encephalitis brain abscess CNS infections subarachnoid hemorrhage, subdural hematoma ischemic stroke neoplasm * Guillain-Barre syndrome [anvita.info]

Etiologies include adh-producing neoplasms, injuries or diseases involving the hypothalamus, the pituitary gland, and the lung. This syndrome can also be drug-induced. [icd10data.com]

Etiology and diagnostic investigation When faced with a hyponatremic patient, the first step should be to rule out pseudohyponatremia. In true hyponatremia, serum osmolality is always low. [jbn.org.br]

Summary Epidemiology NSIAD is a very rare disease with 21 cases of hyponatremia due to NSIAD having been reported to date, the majority of them coming from 5 families. NSIAD affects mainly males. [orpha.net]

A prospective analysis of its epidemiology and the pathogenetic role of vasopressin Ann Int Med, 102 (1985), pp. 164-168 [4.] J.A. Clayton, I.R. LE Jeune, I.P. [elsevier.es]

[…] medical societies: American Academy of Pediatrics, American College of Epidemiology, American Pediatric Society, Endocrine Society, Florida Pediatric Society, Lawson-Wilkins Pediatric Endocrine Society, and Society for Pediatric Research Disclosure: [emedicine.medscape.com]

An elucidation of the pathophysiology of this syndrome will provide more insight into the action of AVP. An effective treatment of NSIAD is available. It consists of fluid restriction and administration of oral urea. [ncbi.nlm.nih.gov]

This Second Edition has been thoroughly updated with the latest information on pathophysiology, treatment, and drug dosing. New chapters cover obesity, vitamin D deficiency, autoimmune polyendocrine syndromes, and endocrine disorders in HIV/AIDS. [books.google.com]

2009 2009 Thirst perception and arginine vasopressin production in a kindred with an activating mutation of the type 2 vasopressin receptor: the pathophysiology of nephrogenic syndrome of inappropriate… Siddharth Gupta, Tim D. [semanticscholar.org]

Centers for Disease Control and Prevention advised. [medworm.com]

Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets [books.google.it]

The ability to find a definitive cause in this case has provided validation to our patient, given a rational for preventative management with fluid restriction, and allows the potential for family screening. [endocrine-abstracts.org]

Prevention Congenital NDI cannot be prevented. Treating the disorders that can lead to the acquired form of the condition may prevent it from developing in some cases. References Bichet DG. Polyuria and diabetes insipidus. [umms.org]

Follow these steps to lower serum sodium, if correction exceeds therapeutic limits: Administer desmopressin to prevent further water losses: 2-4 mg every 8 hours parenterally. [wikidoc.org]