Diagnostyka genetyczna u chorych z zespołem Liddle’a Artykuł przeglądowy
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sty 17, 2017
Słowa kluczowe:
zespół Liddle’a, mutacja, ENaC, diagnostyka genetyczna
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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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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
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Copyright: © Medical Education sp. z o.o. This is an Open Access article distributed under the terms of the Attribution-NonCommercial 4.0 International (CC BY-NC 4.0). License (https://creativecommons.org/licenses/by-nc/4.0/), allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.
Address reprint requests to: Medical Education, Marcin Kuźma (marcin.kuzma@mededu.pl)
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.
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.