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Nephrogenic syndrome of inappropriate antidiuresis(NSIAD)

MedGen UID:
336877
Concept ID:
C1845202
Disease or Syndrome
Synonym: NSIAD
SNOMED CT: Nephrogenic syndrome of inappropriate antidiuresis (723440000); NSIAD - nephrogenic syndrome of inappropriate antidiuresis (723440000)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Gene (location): AVPR2 (Xq28)
 
Monarch Initiative: MONDO:0010356
OMIM®: 300539
Orphanet: ORPHA93606

Definition

The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a common cause of hyponatremia. The syndrome manifests as an inability to excrete a free water load, with inappropriately concentrated urine and resultant hyponatremia, hypoosmolality, and natriuresis. SIADH occurs in a setting of normal blood volume, without evidence of renal disease or deficiency of thyroxine or cortisol. Although usually transient, SIADH may be chronic; it is often associated with drug use or a lesion in the central nervous system or lung. When the cardinal features of SIADH were defined by Bartter and Schwartz (1967), levels of AVP could not be measured. Subsequently, radioimmunoassays revealed that SIADH is usually associated with measurably elevated serum levels of AVP. Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is characterized by a clinical picture similar to SIADH, but is associated with undetectable levels of AVP (Feldman et al., 2005). [from OMIM]

Clinical features

From HPO
Hyposthenuria
MedGen UID:
68565
Concept ID:
C0232831
Finding
An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine.
Hypernatriuria
MedGen UID:
854169
Concept ID:
C3671887
Finding
An increased concentration of sodium(1+) in the urine.
Elevated systolic blood pressure
MedGen UID:
333547
Concept ID:
C1840374
Finding
Abnormal increase in systolic blood pressure.
Generalized-onset seizure
MedGen UID:
115963
Concept ID:
C0234533
Disease or Syndrome
A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.
Irritability
MedGen UID:
397841
Concept ID:
C2700617
Mental Process
A proneness to anger, i.e., a tendency to become easily bothered or annoyed.
Hyponatremia
MedGen UID:
6984
Concept ID:
C0020625
Finding
An abnormally decreased sodium concentration in the blood.
Decreased serum creatinine
MedGen UID:
488901
Concept ID:
C0428282
Finding
An abnormally reduced amount of creatinine in the blood.
Reduced blood urea nitrogen
MedGen UID:
1670959
Concept ID:
C4732780
Finding
An abnormally low concentration of urea nitrogen in the blood.
Abnormal circulating aldosterone concentration
MedGen UID:
808216
Concept ID:
C0857898
Finding
Decreased circulating renin concentration
MedGen UID:
337182
Concept ID:
C1845206
Finding
An decreased level of renin in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNephrogenic syndrome of inappropriate antidiuresis
Follow this link to review classifications for Nephrogenic syndrome of inappropriate antidiuresis in Orphanet.

Professional guidelines

PubMed

Bardanzellu F, Marcialis MA, Frassetto R, Melis A, Fanos V
Pediatr Nephrol 2022 Jul;37(7):1469-1478. Epub 2021 Sep 1 doi: 10.1007/s00467-021-05250-1. PMID: 34468821Free PMC Article

Recent clinical studies

Etiology

Vezzi V, Ambrosio C, Grò MC, Molinari P, Süral G, Costa T, Onaran HO, Cotecchia S
Sci Rep 2020 Jun 4;10(1):9111. doi: 10.1038/s41598-020-65996-w. PMID: 32499611Free PMC Article
Miyado M, Fukami M, Takada S, Terao M, Nakabayashi K, Hata K, Matsubara Y, Tanaka Y, Sasaki G, Nagasaki K, Shiina M, Ogata K, Masunaga Y, Saitsu H, Ogata T
J Am Soc Nephrol 2019 May;30(5):877-889. Epub 2019 Apr 8 doi: 10.1681/ASN.2018121268. PMID: 30962325Free PMC Article
Ranieri M, Di Mise A, Tamma G, Valenti G
F1000Res 2019;8 Epub 2019 Feb 4 doi: 10.12688/f1000research.16654.1. PMID: 30800291Free PMC Article
Mannesse CK, Jansen PA, Van Marum RJ, Sival RC, Kok RM, Haffmans PM, Egberts TC
Maturitas 2013 Dec;76(4):357-63. Epub 2013 Sep 7 doi: 10.1016/j.maturitas.2013.08.010. PMID: 24094459

Diagnosis

Gavryutina I, Bargman R, Shaoba A, Alharash H, Mongia A
Pediatr Nephrol 2023 Apr;38(4):1035-1038. Epub 2022 Jun 24 doi: 10.1007/s00467-022-05648-5. PMID: 35748946
Bardanzellu F, Marcialis MA, Frassetto R, Melis A, Fanos V
Pediatr Nephrol 2022 Jul;37(7):1469-1478. Epub 2021 Sep 1 doi: 10.1007/s00467-021-05250-1. PMID: 34468821Free PMC Article
Bardanzellu F, Pintus MC, Masile V, Fanos V, Marcialis MA
Pediatr Nephrol 2019 May;34(5):763-775. Epub 2018 Mar 15 doi: 10.1007/s00467-018-3922-6. PMID: 29546600
Filippatos TD, Liamis G, Christopoulou F, Elisaf MS
Eur J Intern Med 2016 Apr;29:22-5. Epub 2015 Dec 17 doi: 10.1016/j.ejim.2015.11.022. PMID: 26706473
Verbalis JG, Goldsmith SR, Greenberg A, Korzelius C, Schrier RW, Sterns RH, Thompson CJ
Am J Med 2013 Oct;126(10 Suppl 1):S1-42. doi: 10.1016/j.amjmed.2013.07.006. PMID: 24074529

Therapy

Bardanzellu F, Pintus MC, Masile V, Fanos V, Marcialis MA
Pediatr Nephrol 2019 May;34(5):763-775. Epub 2018 Mar 15 doi: 10.1007/s00467-018-3922-6. PMID: 29546600
Verbalis JG, Goldsmith SR, Greenberg A, Korzelius C, Schrier RW, Sterns RH, Thompson CJ
Am J Med 2013 Oct;126(10 Suppl 1):S1-42. doi: 10.1016/j.amjmed.2013.07.006. PMID: 24074529
Vandergheynst F, Brachet C, Heinrichs C, Decaux G
Nephron Clin Pract 2012;120(3):c168-72. Epub 2012 Jun 19 doi: 10.1159/000338539. PMID: 22722264
Marcialis MA, Dessì A, Contu S, Fanos V
J Matern Fetal Neonatal Med 2009;22 Suppl 3:67-71. doi: 10.1080/14767050903196037. PMID: 19925363
Decaux G, Vandergheynst F, Bouko Y, Parma J, Vassart G, Vilain C
J Am Soc Nephrol 2007 Feb;18(2):606-12. Epub 2007 Jan 17 doi: 10.1681/ASN.2006090987. PMID: 17229917

Prognosis

Cavarzere P, Gastaldi A, Elli FM, Gaudino R, Peverelli E, Brugnara M, Thiele S, Granata F, Mantovani G, Antoniazzi F
Orphanet J Rare Dis 2022 Feb 23;17(1):83. doi: 10.1186/s13023-022-02252-6. PMID: 35197096Free PMC Article
Miyado M, Fukami M, Takada S, Terao M, Nakabayashi K, Hata K, Matsubara Y, Tanaka Y, Sasaki G, Nagasaki K, Shiina M, Ogata K, Masunaga Y, Saitsu H, Ogata T
J Am Soc Nephrol 2019 May;30(5):877-889. Epub 2019 Apr 8 doi: 10.1681/ASN.2018121268. PMID: 30962325Free PMC Article
Vandergheynst F, Decaux G
Nephrol Dial Transplant 2008 Jul;23(7):2399-401. Epub 2008 Apr 9 doi: 10.1093/ndt/gfn124. PMID: 18400823

Clinical prediction guides

Cavarzere P, Gastaldi A, Elli FM, Gaudino R, Peverelli E, Brugnara M, Thiele S, Granata F, Mantovani G, Antoniazzi F
Orphanet J Rare Dis 2022 Feb 23;17(1):83. doi: 10.1186/s13023-022-02252-6. PMID: 35197096Free PMC Article
Ranieri M, Tamma G, Pellegrino T, Vezzi V, Ambrosio C, Grò C, Di Mise A, Costa T, Valenti G, Cotecchia S
Pflugers Arch 2019 Oct;471(10):1291-1304. Epub 2019 Sep 5 doi: 10.1007/s00424-019-02307-x. PMID: 31486901
Armstrong SP, Seeber RM, Ayoub MA, Feldman BJ, Pfleger KD
PLoS One 2013;8(6):e65885. Epub 2013 Jun 6 doi: 10.1371/journal.pone.0065885. PMID: 23762448Free PMC Article
Kocan M, See HB, Sampaio NG, Eidne KA, Feldman BJ, Pfleger KD
Mol Endocrinol 2009 Apr;23(4):559-71. Epub 2009 Jan 29 doi: 10.1210/me.2008-0321. PMID: 19179480Free PMC Article
Marcialis MA, Faà V, Fanos V, Puddu M, Pintus MC, Cao A, Rosatelli MC
Pediatr Nephrol 2008 Dec;23(12):2267-71. Epub 2008 Jul 12 doi: 10.1007/s00467-008-0913-z. PMID: 18622631

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