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Low-to-normal blood pressure

MedGen UID:
356549
Concept ID:
C1866500
Finding
Synonym: Low-to-normal BP
 
HPO: HP:0002632

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLow-to-normal blood pressure

Conditions with this feature

Bartter disease type 2
MedGen UID:
343428
Concept ID:
C1855849
Disease or Syndrome
Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997). Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, 607364) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). For a discussion of genetic heterogeneity of Bartter syndrome, see 607364.
Bartter disease type 1
MedGen UID:
355727
Concept ID:
C1866495
Disease or Syndrome
Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997). Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, 607364) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). For a discussion of genetic heterogeneity of Bartter syndrome, see 607364.

Professional guidelines

PubMed

Konrad M, Nijenhuis T, Ariceta G, Bertholet-Thomas A, Calo LA, Capasso G, Emma F, Schlingmann KP, Singh M, Trepiccione F, Walsh SB, Whitton K, Vargas-Poussou R, Bockenhauer D
Kidney Int 2021 Feb;99(2):324-335. doi: 10.1016/j.kint.2020.10.035. PMID: 33509356

Recent clinical studies

Etiology

Konrad M, Nijenhuis T, Ariceta G, Bertholet-Thomas A, Calo LA, Capasso G, Emma F, Schlingmann KP, Singh M, Trepiccione F, Walsh SB, Whitton K, Vargas-Poussou R, Bockenhauer D
Kidney Int 2021 Feb;99(2):324-335. doi: 10.1016/j.kint.2020.10.035. PMID: 33509356
McGrath ER, Beiser AS, DeCarli C, Plourde KL, Vasan RS, Greenberg SM, Seshadri S
Neurology 2017 Dec 12;89(24):2447-2454. Epub 2017 Nov 8 doi: 10.1212/WNL.0000000000004741. PMID: 29117954Free PMC Article
Cesari M, Letizia C, Angeli P, Sciomer S, Rosi S, Rossi GP
Circ Cardiovasc Imaging 2016 Jun;9(6) doi: 10.1161/CIRCIMAGING.116.004815. PMID: 27307552
Dufek S, Feldkoetter M, Vidal E, Litwin M, Munk M, Reitner A, Mueller-Sacherer T, Aufricht C, Arbeiter K, Boehm M
Pediatr Nephrol 2014 Jul;29(7):1249-57. Epub 2014 Feb 2 doi: 10.1007/s00467-013-2747-6. PMID: 24488506

Diagnosis

Olinger E, Phakdeekitcharoen P, Caliskan Y, Orr S, Mabillard H, Pickles C, Tse Y, Wood K; Genomics England Research Consortium, Sayer JA
Am J Med Genet C Semin Med Genet 2022 Mar;190(1):109-120. Epub 2022 Mar 15 doi: 10.1002/ajmg.c.31964. PMID: 35289079Free PMC Article
Konrad M, Nijenhuis T, Ariceta G, Bertholet-Thomas A, Calo LA, Capasso G, Emma F, Schlingmann KP, Singh M, Trepiccione F, Walsh SB, Whitton K, Vargas-Poussou R, Bockenhauer D
Kidney Int 2021 Feb;99(2):324-335. doi: 10.1016/j.kint.2020.10.035. PMID: 33509356
Cesari M, Letizia C, Angeli P, Sciomer S, Rosi S, Rossi GP
Circ Cardiovasc Imaging 2016 Jun;9(6) doi: 10.1161/CIRCIMAGING.116.004815. PMID: 27307552
Dimitrijevic Z, Salinger-Martinovic S, Mitic B, Nikolic V
Clin Ter 2015;166(3):e173-6. doi: 10.7417/CT.2015.1850. PMID: 26152628
Skalova S, Neuman D, Lnenicka P, Stekrova J
Arab J Nephrol Transplant 2013 Jan;6(1):37-9. PMID: 23282232

Therapy

Dufek S, Feldkoetter M, Vidal E, Litwin M, Munk M, Reitner A, Mueller-Sacherer T, Aufricht C, Arbeiter K, Boehm M
Pediatr Nephrol 2014 Jul;29(7):1249-57. Epub 2014 Feb 2 doi: 10.1007/s00467-013-2747-6. PMID: 24488506
Skalova S, Neuman D, Lnenicka P, Stekrova J
Arab J Nephrol Transplant 2013 Jan;6(1):37-9. PMID: 23282232

Prognosis

McGrath ER, Beiser AS, DeCarli C, Plourde KL, Vasan RS, Greenberg SM, Seshadri S
Neurology 2017 Dec 12;89(24):2447-2454. Epub 2017 Nov 8 doi: 10.1212/WNL.0000000000004741. PMID: 29117954Free PMC Article
Cesari M, Letizia C, Angeli P, Sciomer S, Rosi S, Rossi GP
Circ Cardiovasc Imaging 2016 Jun;9(6) doi: 10.1161/CIRCIMAGING.116.004815. PMID: 27307552
Dimitrijevic Z, Salinger-Martinovic S, Mitic B, Nikolic V
Clin Ter 2015;166(3):e173-6. doi: 10.7417/CT.2015.1850. PMID: 26152628
Dufek S, Feldkoetter M, Vidal E, Litwin M, Munk M, Reitner A, Mueller-Sacherer T, Aufricht C, Arbeiter K, Boehm M
Pediatr Nephrol 2014 Jul;29(7):1249-57. Epub 2014 Feb 2 doi: 10.1007/s00467-013-2747-6. PMID: 24488506
Skalova S, Neuman D, Lnenicka P, Stekrova J
Arab J Nephrol Transplant 2013 Jan;6(1):37-9. PMID: 23282232

Clinical prediction guides

Cesari M, Letizia C, Angeli P, Sciomer S, Rosi S, Rossi GP
Circ Cardiovasc Imaging 2016 Jun;9(6) doi: 10.1161/CIRCIMAGING.116.004815. PMID: 27307552

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