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Pseudohyperaldosteronism type 2

MedGen UID:
343170
Concept ID:
C1854631
Disease or Syndrome
Synonym: Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy
 
Gene (location): NR3C2 (4q31.23)
 
Monarch Initiative: MONDO:0011517
OMIM®: 605115
Orphanet: ORPHA88660

Definition

Hypertension due to gain-of-function mutations in the mineralocorticoid receptor is a rare genetic hypertension characterized by a familial severe hypertension with an onset before age 20 years, associated with suppressed plasma renin and low aldosterone levels in the presence of low or normal levels of the mineralocorticoid aldosterone, that is highly resistant to antihypertensive medication. During pregnancy, there is a marked exacerbation of hypertension, accompanied by low serum potassium levels and undetectable aldosterone levels, but without signs of preeclampsia, requiring early delivery. [from ORDO]

Clinical features

From HPO
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Decreased circulating aldosterone concentration
MedGen UID:
208996
Concept ID:
C0857899
Finding
Abnormally reduced levels of aldosterone.
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  
  • CROGVPseudohyperaldosteronism type 2
Follow this link to review classifications for Pseudohyperaldosteronism type 2 in Orphanet.

Professional guidelines

PubMed

Assadi F
Iran J Kidney Dis 2008 Jul;2(3):115-22. PMID: 19377223

Recent clinical studies

Etiology

Makino T
J Nat Med 2021 Mar;75(2):275-283. Epub 2021 Jan 22 doi: 10.1007/s11418-021-01484-3. PMID: 33481180Free PMC Article
Levanovich PE, Diaczok A, Rossi NF
Curr Hypertens Rev 2020;16(2):91-107. doi: 10.2174/1573402115666190409115330. PMID: 30963979Free PMC Article
Sabbadin C, Armanini D
High Blood Press Cardiovasc Prev 2016 Sep;23(3):231-5. Epub 2016 Jun 1 doi: 10.1007/s40292-016-0160-5. PMID: 27251484
Hassan-Smith Z, Stewart PM
Curr Opin Endocrinol Diabetes Obes 2011 Jun;18(3):177-85. doi: 10.1097/MED.0b013e3283469444. PMID: 21494136
Vehaskari VM
Pediatr Nephrol 2009 Oct;24(10):1929-37. Epub 2007 Jul 24 doi: 10.1007/s00467-007-0537-8. PMID: 17647025Free PMC Article

Diagnosis

Monticone S, Losano I, Tetti M, Buffolo F, Veglio F, Mulatero P
Clin Endocrinol (Oxf) 2018 Oct;89(4):385-396. Epub 2018 Jun 6 doi: 10.1111/cen.13741. PMID: 29758100
Sabbadin C, Armanini D
High Blood Press Cardiovasc Prev 2016 Sep;23(3):231-5. Epub 2016 Jun 1 doi: 10.1007/s40292-016-0160-5. PMID: 27251484
Martinez-Aguayo A, Fardella C
Horm Res 2009;71(5):253-9. Epub 2009 Apr 1 doi: 10.1159/000208798. PMID: 19339789
Assadi F
Iran J Kidney Dis 2008 Jul;2(3):115-22. PMID: 19377223
Connell JM, Fraser R, Davies E
Best Pract Res Clin Endocrinol Metab 2001 Mar;15(1):43-60. doi: 10.1053/beem.2000.0118. PMID: 11469810

Therapy

Makino T
J Nat Med 2021 Mar;75(2):275-283. Epub 2021 Jan 22 doi: 10.1007/s11418-021-01484-3. PMID: 33481180Free PMC Article
Beck KR, Telisman L, van Koppen CJ, Thompson GR 3rd, Odermatt A
J Steroid Biochem Mol Biol 2020 May;199:105605. Epub 2020 Jan 23 doi: 10.1016/j.jsbmb.2020.105605. PMID: 31982514
Sabbadin C, Armanini D
High Blood Press Cardiovasc Prev 2016 Sep;23(3):231-5. Epub 2016 Jun 1 doi: 10.1007/s40292-016-0160-5. PMID: 27251484
Makino T
Biol Pharm Bull 2014;37(6):898-902. doi: 10.1248/bpb.b13-00997. PMID: 24882402
Assadi F
Iran J Kidney Dis 2008 Jul;2(3):115-22. PMID: 19377223

Prognosis

Khandelwal P, Deinum J
Pediatr Nephrol 2022 Jul;37(7):1495-1509. Epub 2021 Aug 20 doi: 10.1007/s00467-021-05246-x. PMID: 34414500
Kemp SA, Collier DA, Datir RP, Ferreira IATM, Gayed S, Jahun A, Hosmillo M, Rees-Spear C, Mlcochova P, Lumb IU, Roberts DJ, Chandra A, Temperton N; CITIID-NIHR BioResource COVID-19 Collaboration; COVID-19 Genomics UK (COG-UK) Consortium, Sharrocks K, Blane E, Modis Y, Leigh KE, Briggs JAG, van Gils MJ, Smith KGC, Bradley JR, Smith C, Doffinger R, Ceron-Gutierrez L, Barcenas-Morales G, Pollock DD, Goldstein RA, Smielewska A, Skittrall JP, Gouliouris T, Goodfellow IG, Gkrania-Klotsas E, Illingworth CJR, McCoy LE, Gupta RK
Nature 2021 Apr;592(7853):277-282. Epub 2021 Feb 5 doi: 10.1038/s41586-021-03291-y. PMID: 33545711Free PMC Article
Beck KR, Telisman L, van Koppen CJ, Thompson GR 3rd, Odermatt A
J Steroid Biochem Mol Biol 2020 May;199:105605. Epub 2020 Jan 23 doi: 10.1016/j.jsbmb.2020.105605. PMID: 31982514
Levanovich PE, Diaczok A, Rossi NF
Curr Hypertens Rev 2020;16(2):91-107. doi: 10.2174/1573402115666190409115330. PMID: 30963979Free PMC Article
Ariceta G, Rodríguez-Soriano J
Semin Nephrol 2006 Nov;26(6):422-33. doi: 10.1016/j.semnephrol.2006.10.002. PMID: 17275579

Clinical prediction guides

Kemp SA, Collier DA, Datir RP, Ferreira IATM, Gayed S, Jahun A, Hosmillo M, Rees-Spear C, Mlcochova P, Lumb IU, Roberts DJ, Chandra A, Temperton N; CITIID-NIHR BioResource COVID-19 Collaboration; COVID-19 Genomics UK (COG-UK) Consortium, Sharrocks K, Blane E, Modis Y, Leigh KE, Briggs JAG, van Gils MJ, Smith KGC, Bradley JR, Smith C, Doffinger R, Ceron-Gutierrez L, Barcenas-Morales G, Pollock DD, Goldstein RA, Smielewska A, Skittrall JP, Gouliouris T, Goodfellow IG, Gkrania-Klotsas E, Illingworth CJR, McCoy LE, Gupta RK
Nature 2021 Apr;592(7853):277-282. Epub 2021 Feb 5 doi: 10.1038/s41586-021-03291-y. PMID: 33545711Free PMC Article
Inderbinen SG, Zogg M, Kley M, Smieško M, Odermatt A
Toxicol Appl Pharmacol 2021 Feb 1;412:115387. Epub 2020 Dec 31 doi: 10.1016/j.taap.2020.115387. PMID: 33387577
Beck KR, Telisman L, van Koppen CJ, Thompson GR 3rd, Odermatt A
J Steroid Biochem Mol Biol 2020 May;199:105605. Epub 2020 Jan 23 doi: 10.1016/j.jsbmb.2020.105605. PMID: 31982514
Morinaga O, Ishiuchi K, Ohkita T, Tian C, Hirasawa A, Mitamura M, Maki Y, Yasujima T, Yuasa H, Makino T
Sci Rep 2018 Oct 22;8(1):15568. doi: 10.1038/s41598-018-33834-9. PMID: 30348944Free PMC Article
Sundaresan S, Shahid R, Riehl TE, Chandra R, Nassir F, Stenson WF, Liddle RA, Abumrad NA
FASEB J 2013 Mar;27(3):1191-202. Epub 2012 Dec 11 doi: 10.1096/fj.12-217703. PMID: 23233532Free PMC Article

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