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A rare cause of systemic hypertension in an African child: Answers

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References

  1. Liddle GW, Bledsoe T, Coppage WS (1963) A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion. Trans Assoc Am Physicians 76:199–213

    CAS  Google Scholar 

  2. Liddle GW, Bledsoe T, Coppage WS (1974) Hypertension reviews. J Tenn Med Assoc 67:669

    PubMed  CAS  Google Scholar 

  3. Firsov D, Schild L, Gautschi I, Merillat AM, Schneeberger E, Rossier BC (1996) Cell surface expression of the epithelial Na channel and a mutant causing Liddle syndrome: a quantitative approach. Proc Natl Acad Sci USA 93:15370–15375

    Article  PubMed  CAS  Google Scholar 

  4. Tong Q, Menon AG, Stockand JD (2006) Functional polymorphisms in the alpha-subunit of the human epithelial Na channel increase activity. Am J Physiol Renal Physiol 290:F821–F827

    Article  PubMed  CAS  Google Scholar 

  5. Baker EH, Dong YB, Sagnella GA, Rothwell M, Onipinla AK, Markandu ND, Cappuccio FP, Cook DG, Persu A, Corvol P, Jeunemaitre X, Carter ND, Macgregor GA (1998) Association of hypertension with T594M mutation in beta subunit of epithelial sodium channels in black people resident in London. Lancet 351:1388–1392

    Article  PubMed  CAS  Google Scholar 

  6. Schild L, Lu Y, Gautschi I, Schneeberger E, Lifton RP, Rossier BC (1996) Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome. EMBO J 15:2381–2387

    PubMed  CAS  Google Scholar 

  7. Kellenberger S, Hoffman-Pochon N, Gautschi I, Schneeberger E, Schild L (1999) On the molecular basis of ion permeation in the epithelial Na+ channel. J Gen Physiol 114:13–30

    Article  PubMed  CAS  Google Scholar 

  8. Dong YB, Plange-Rhule J, Owusu I, Micah F, Eastwood JB, Carter ND, Saggar-Malik AK, Cappuccio FP, Jeffery S (2002) T594M mutation of the beta-subunit of the epithelial sodium channel in Ghanaian populations from Kumasi and London and a possible association with hypertension. Genet Test 6:63–65

    Article  PubMed  CAS  Google Scholar 

  9. Nkeh B, Samani NJ, Badenhorst D, Libhaber E, Sareli P, Norton GR, Woodiwiss AJ (2003) T594M variant of the epithelial sodium channel beta-subunit gene and hypertension in individuals of African ancestry in South Africa. Am J Hypertens 16:847–852

    Article  PubMed  CAS  Google Scholar 

  10. Warnock DG (1999) T594M mutation in the ENaC beta subunit and low-renin hypertension in blacks. Am J Kidney Dis 34:579–587

    Article  PubMed  CAS  Google Scholar 

  11. Hollier JM, Martin DF, Bell DM, Li JL, Chirachanchai MG, Menon DV, Leonard D, Wu X, Cooper RS, McKenzie C, Victor RG, Auchus RJ (2006) Epithelial sodium channel allele T594M is not associated with blood pressure or blood pressure response to amiloride. Hypertension 47:428–433

    Article  PubMed  CAS  Google Scholar 

  12. Vehaskari VM (2009) Heritable forms of hypertension. Pediatr Nephrol 24:1929–1937

    Article  PubMed  Google Scholar 

  13. Simonetti GD, Mohaupt MG, Bianchetti MG (2012) Monogenic forms of hypertension. Eur J Pediatr 171:1433–1439

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Pediatrics, 1 Military Hospital, Thaba Tshwane, University of Pretoria, Private Bag x323, Pretoria, Arcadia, 0007, South Africa

    Patience Sigwadi

  2. Department of Pediatrics, Steve Biko Academic Hospital, University of Pretoria, Private Bag x323, Pretoria, Arcadia, 0007, South Africa

    Patience Sigwadi & Gertruida van Biljon

Authors
  1. Patience Sigwadi
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  2. Gertruida van Biljon
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Correspondence to Patience Sigwadi.

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This refers to the article that can be found at http://dx.doi.org/10.1007/s00467-013-2445-4.

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Sigwadi, P., van Biljon, G. A rare cause of systemic hypertension in an African child: Answers. Pediatr Nephrol 29, 63–65 (2014). https://doi.org/10.1007/s00467-013-2446-3

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