Diagnostyka genetyczna u chorych z zespołem Liddle’a Artykuł przeglądowy

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Angelika Długosz
Jarosław Góra
Ewelina Zakościelna
Grzegorz Placha

Abstrakt

Zespół Liddle’a to rzadka, monogenowa postać nadciśnienia tętniczego o autosomalnym, dominującym typie dziedziczenia. Wiąże się ona z mutacjami w genach kodujących podjednostki β i γ nabłonkowego kanału sodowego (ENaC, Epithelial Na+ Channel). Mutacje te skutkują głównie utratą wysoko konserwowanego motywu PY będącego miejscem przyczepu ligazy E3 ubikwityny, która w prawidłowych warunkach usuwa kanał sodowy z powierzchni komórki. Nadmiar lub większa aktywność kanałów ENaC w błonie komórkowej powodują zwiększone wchłanianie sodu, będące bezpośrednią przyczyną nadciśnienia, hipokaliemii i zasadowicy metabolicznej. W prezentowanej pracy omówiono diagnostykę genetyczną i kliniczną zespołu Liddle’a.

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Jak cytować
Długosz , A., Góra , J., Zakościelna , E., & Placha , G. (2017). Diagnostyka genetyczna u chorych z zespołem Liddle’a . Kardiologia W Praktyce, 10(4), 27-32. Pobrano z https://www.journalsmededu.pl/index.php/kwp/article/view/1269
Dział
Artykuły

Bibliografia

1. Liddle G.W., Bledsoe T., Coppage W.S.: A Familial Renal Disorder Simulating Primary Aldosteronism but with Negligible Aldosterone Secretion. Trans. Assoc. Am. Physicians. 1963; 76: 199-213.
2. Botero-Velez M., Curtis J.J., Warnock D.G.: Brief report: Liddle's syndrome revisited – a disorder of sodium reabsorption in the distal tubule. N. Engl. J. Med. 1994; 330(3): 178-181.
3. Warnock D.G.: Liddle syndrome: an autosomal dominant form of human hypertension. Kidney Int. 1998; 53(1): 18-24.
4. Findling J.W., Raff H., Hansson J.H. et al.: Liddle’s syndrome: prospective genetic screening and suppressed aldosterone secretion in an extended kindred. J. Clin. Endocrinol. Metab. 1997; 82(4): 1071-1074.
5. Bogdanovic R., Kuburovic V., Stajic N. et al.: Liddle syndrome in a Serbian family and literature review of underlying mutations. Eur. J. Pediatr. 2012; 171(3): 471-478.
6. Freundlich M., Ludwig M.: A novel epithelial sodium channel beta-subunit mutation associated with hypertensive Liddle syndrome. Pediatr. Nephrol. 2005; 20(4): 512-515.
7. Sawathiparnich P., Sumboonnanonda A., Weerakulwattana P. et al.: A novel mutation in the beta-subunit of the epithelial sodium channel gene (SCNN1B) in a Thai family with Liddle's syndrome. J. Pediatr. Endocrinol. Metab. 2009; 22(1): 85-89.
8. Rossi E., Farnetti E., Nicoli D. et al.: A clinical phenotype mimicking essential hypertension in a newly discovered family with Liddle's syndrome. Am. J. Hypertens. 2011; 24(8): 930-935.
9. Furuhashi M., Kitamura K., Adachi M. et al.: Liddle’s syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta-subunit. J. Clin. Endocrinol. Metab. 2005; 90(1): 340-344.
10. Hiltunen T.P., Hannila-Handelberg T., Petajaniemi N. et al.: Liddle’s syndrome associated with a point mutation in the extracellular domain of the epithelial sodium channel gamma subunit. J. Hypertens. 2002; 20(12): 2383-2390.
11. Jeunemaitre X., Bassilana F., Persu A. et al.: Genotype-phenotype analysis of a newly discovered family with Liddle’s syndrome. J. Hypertens. 1997; 15(10): 1091-1100.
12. Melander O., Orho M., Fagerudd J. et al.: Mutations and variants of the epithelial sodium channel gene in Liddle’s syndrome and primary hypertension. Hypertension. 1998; 31(5): 1118-1124.
13. Rayner B.L., Owen E.P., King J.A. et al.: A new mutation, R563Q, of the beta subunit of the epithelial sodium channel associated with low-renin, low-aldosterone hypertension. J. Hypertens. 2003; 21(5): 921-926.
14. Tamura H., Schild L., Enomoto N. et al.: Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene. J. Clin. Invest. 1996; 97(7): 1780-1784.
15. Assadi F.K., Kimura R.E., Subramanian U. et al.: Liddle syndrome in a newborn infant. Pediatr. Nephrol. 2002; 17(8): 609-611.
16. Hansson J.H., Nelson-Williams C., Suzuki H. et al.: Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. Nat. Genet. 1995; 11(1): 76-82.
17. Vania A., Tucciarone L., Mazzeo D. et al.: Liddle's syndrome: a 14-year follow-up of the youngest diagnosed case. Pediatr. Nephrol. 1997; 11(1): 7-11.
18. Duc C., Farman N., Canessa C.M. et al.: Cell-specific expression of epithelial sodium channel alpha, beta, and gamma subunits in aldosterone-responsive epithelia from the rat: localization by in situ hybridization and immunocytochemistry. J. Cell. Biol. 1994; 127(6 Pt 2): 1907-1921.
19. Kashlan O.B., Kleyman T.R.: ENaC structure and function in the wake of a resolved structure of a family member. Am. J. Physiol. Renal. Physiol. 2011; 301(4): F684-96.
20. Jones E.S., Owen E.P., Davidson J.S. et al.: The R563Q mutation of the epithelial sodium channel beta-subunit is associated with hypertension. Cardiovasc. J. Afr. 2011; 22(5): 241-244.
21. Shimkets R.A., Warnock D.G., Bositis C.M. et al.: Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel. Cell. 1994; 79(3): 407-414.
22. Kyuma M., Ura N., Torii T. et al.: A family with Liddle’s syndrome caused by a mutation in the beta subunit of the epithelial sodium channel. Clin. Exp. Hypertens. 2001; 23(6): 471-478.
23. Shi J.Y., Chen X., Ren Y. et al.: [Liddle's syndrome caused by a novel mutation of the gamma-subunit of epithelial sodium channel gene SCNN1G] (in Chinese). Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2010; 27(2): 132-135.
24. Jackson S.N., Williams B., Houtman P. et al.: The diagnosis of Liddle syndrome by identification of a mutation in the beta subunit of the epithelial sodium channel. J. Med. Genet. 1998; 35(6): 510-512.
25. Inoue T., Okauchi Y., Matsuzaki Y. et al.: Identification of a single cytosine base insertion mutation at Arg-597 of the beta subunit of the human epithelial sodium channel in a family with Liddle’s disease. Eur. J. Endocrinol. 1998; 138(6): 691-697.
26. Nakano Y., Ishida T., Ozono R. et al.: A frameshift mutation of beta subunit of epithelial sodium channel in a case of isolated Liddle syndrome. J. Hypertens. 2002; 20(12): 2379-2382.
27. Gong L., Chen J., Shao L. et al.: Phenotype-genotype analysis in two Chinese families with Liddle syndrome. Mol. Biol. Rep. 2014; 41(3): 1569-1575.
28. Ma X., Tian Y., Gao Y. et al.: [A study of mutation(s) of the epithelial sodium channel gene in a Liddle's syndrome family]. Zhonghua Nei Ke Za Zhi 2001; 40(6): 390-393.
29. Gao L., Wang L., Liu Y. et al.: A family with Liddle syndrome caused by a novel missense mutation in the PY motif of the beta-subunit of the epithelial sodium channel. J. Pediatr. 2013; 162(1): 166-170.
30. Inoue J., Iwaoka T., Tokunaga H. et al.: A family with Liddle’s syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel. J. Clin. Endocrinol. Metab. 1998; 83(6): 2210-2213.
31. Rossi E., Farnetti E., Debonneville A. et al.: Liddle’s syndrome caused by a novel missense mutation (P617L) of the epithelial sodium channel beta subunit. J. Hypertens. 2008; 26(5): 921-927.
32. Uehara Y., Sasaguri M., Kinoshita A. et al.: Genetic analysis of the epithelial sodium channel in Liddle's syndrome. J. Hypertens. 1998; 16(8): 1131-1135.
33. Wang L.P., Gao L.G., Zhou X.L. et al.: Genetic diagnosis of Liddle’s syndrome by mutation analysis of SCNN1B and SCNN1G in a Chinese family. Chin. Med. J. (Engl). 2012; 125(8): 1401-1404.
34. Ciechanowicz A., Dolezel Z., Placha G. et al.: Liddle syndrome caused by P616R mutation of the epithelial sodium channel beta subunit. Pediatr. Nephrol. 2005; 20(6): 837-838.
35. Wang W., Zhou W., Jiang L. et al.: Mutation analysis of SCNN1B in a family with Liddle’s syndrome. Endocrine 2006; 29(3): 385-390.
36. Hansson J.H., Schild L., Lu Y. et al.: 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. U S A 1995; 92(25): 11495-11499.
37. Yamashita Y., Koga M., Takeda Y. et al.: Two sporadic cases of Liddle’s syndrome caused by De novo ENaC mutations. Am. J. Kidney Dis. 2001; 37(3): 499-504.
38. Gao P.J., Zhang K.X., Zhu D.L. et al.: 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. 2001; 19(5): 885-889.
39. Yang K.Q., Lu C.X., Xiao Y. et al.: A novel frameshift mutation of epithelial sodium channel beta-subunit leads to Liddle syndrome in an isolated case. Clin. Endocrinol. (Oxf). 2015; 82(4): 611-614.
40. Wang L.P., Yang K.Q., Jiang X.J. et al.: Prevalence of Liddle Syndrome Among Young Hypertension Patients of Undetermined Cause in a Chinese Population. J. Clin. Hypertens. (Greenwich). 2015; 17(11): 902-907.
41. Yang K.Q., Xiao Y., Tian T. et al.: Molecular genetics of Liddle's syndrome. Clin. Chim. Acta. 2014; 436: 202-206.
42. Wang Y., Zheng Y., Chen J. et al.: A novel epithelial sodium channel gamma-subunit de novo frameshift mutation leads to Liddle syndrome. Clin. Endocrinol. (Oxf). 2007; 67(5): 801-804.
43. Staub O., Dho S., Henry P. et al.: WW domains of Nedd4 bind to the proline-rich PY motifs in the epithelial Na+ channel deleted in Liddle's syndrome. EMBO J. 1996; 15(10): 2371-2380.
44. Abriel H., Loffing J., Rebhun J.F. et al.: Defective regulation of the epithelial Na+ channel by Nedd4 in Liddle’s syndrome. J. Clin. Invest. 1999; 103(5): 667-673.
45. McMahon G.T., Dluhy R.G.: Glucocorticoid-remediable aldosteronism. Cardiol. Rev. 2004; 12(1): 44-48.
46. New M.I., Wilson R.C.: Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess. Proc. Natl. Acad. Sci. U S A 1999; 96(22): 12790-12797.
47. Yanase T., Simpson E.R., Waterman M.R.: 17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition. Endocr. Rev. 1991; 12(1): 91-108.
48. Zachmann M., Tassinari D., Prader A.: Clinical and biochemical variability of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. A study of 25 patients. J. Clin. Endocrinol. Metab. 1983; 56(2): 222-229.
49. Wang C., Chan T.K., Yeung R.T. et al.: The effect of triamterene and sodium intake on renin, aldosterone, and erythrocyte sodium transport in Liddle’s syndrome. J. Clin. Endocrinol. Metab. 1981; 52(5): 1027-1032.