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Liddle syndrome caused by P616R mutation of the epithelial sodium channel β subunit

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References

  1. Luft FC (2004) Present status of genetic mechanisms in hypertension. Med Clin North Am 88:1–18

    Article  CAS  PubMed  Google Scholar 

  2. 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 

  3. Dolezel Z, Kopecna L, Starha J (2000) The rare cause of hypokalaemia. Nephrol Dial Transplant 15:1475–1476

    Article  CAS  PubMed  Google Scholar 

  4. Hansson JH, Schild L, Lu Y, Wilson TA, Gautschi I, Shimkets R, Nelson-Williams C, Rossier BC, Lifton RP (1995) A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity. Proc Natl Acad Sci USA 92:11495–11499

    CAS  PubMed  Google Scholar 

  5. Uehara Y, Sasaguri M, Kinoshita A, Tsuji E, Kiyose H, Taniguchi H, Noda K, Ideishi M, Inoue J, Tomita K, Arakawa K (1998) Genetic analysis of the epithelial sodium channel in Liddle’s syndrome. J Hypertens 16:1131–1135

    Article  CAS  PubMed  Google Scholar 

  6. Yamashita Y, Koga M, Takeda Y, Enomoto N, Uchida S, Hashimoto K, Yamano S, Dohi K, Marumo F, Sasaki S (2001) Two sporadic cases of Liddle’s syndrome caused by de novo ENaC mutations. Am J Kidney Dis 37:499–504

    CAS  PubMed  Google Scholar 

  7. Gao PJ, Zhang KX, Zhu DL, He X, Han ZY, Zhan YM, Yang LW (2001) Diagnosis of Liddle syndrome by genetic analysis of beta and gamma subunits of epithelial sodium channel—a report of five affected family members. J Hypertens 19:885–889

    Article  CAS  PubMed  Google Scholar 

  8. 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

    CAS  PubMed  Google Scholar 

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Acknowledgements

The study was supported by grant from The Polish State Committee for Scientific Research (KBN 6P05B08421).

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Correspondence to Andrzej Ciechanowicz.

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Ciechanowicz, A., Dolezel, Z., Placha, G. et al. Liddle syndrome caused by P616R mutation of the epithelial sodium channel β subunit. Pediatr Nephrol 20, 837–838 (2005). https://doi.org/10.1007/s00467-004-1793-5

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