Семейная форма гиперальдостеронизма I типа: клиническое наблюдение и обзор литературы
Материалы доступны только для специалистов сферы здравоохранения. Авторизуйтесь или зарегистрируйтесь.
Ключевые слова: артериальная гипертония, семейный гиперальдостеронизм I типа, химерный ген, терапия глюкокортикоидами.
________________________________________________
Family hyperaldosteronism type I (glucocorticoids–remediable hyperaldosteronism) is a rare form of symptomatic arterial hypertension (AH), which often leads to the development of cerebrovascular complications. The disease is caused by the formation of the chimeric gene CYP11B2/CYP11B1. Expression of the chimeric gene is regulated by adrenocorticotropic hormone, and glucocorticoid therapy leads to a decrease in aldosterone secretion and normalization of blood pressure. The article presents the first clinical case of this monogenic disease diagnosed by us in Russia. The features of clinical course and treatment of the patient have been traced in the dynamics for 40 years of observation. Modern approaches to the diagnosis and treatment of this rare family form of hypertension are discussed.
Keywords: arterial hypertension, family hyperaldosteronism type I, chimeric gene, glucocorticoid therapy.
2. Salti IS, Stiefel M, Ruse JL, Laidlaw JC. Non-tumorous "primary" aldosteronism. I. Type relieved by glucocorticoid (glucocorticoid-remediable aldosteronism). Can Med Assoc J. 1969;12;101(1):1-10. PMID: 5793351
3. Fallo F, Sonino N, Armanini D, Luzzi T, Pedini F, Pasini C, Mantero F. A new family with dexamethasone‐suppressible hyperaldosteronism: aldosterone unresponsiveness to angiotensin II. Clinical Endocrin. 1985;22(6):777-85. https://doi.org/10.1111/j.1365-2265.1985.tb00168.x
4. Sutherland DJ, Ruse JL, Laidlaw JC. Hypertension, increased aldosterone secretion and low plasma renin activity relieved by dexamethasone. Can Med Assoc J. 1966;95(22):1109-19. PMID:4288576
5. Miura K, Yoshinaga K, Goto K, Katsushima I, Maebashi M, Demura H, Iino M, Demura R, Torikai T. A case of glucocorticoid-responsive hyperaldosteronism. J Clin Endocrinol Metab. 1968;28:1807-15. https://doi.org/10.1210/jcem-28-12-1807
6. Litchfield WR, New MI, Coolidge C, Lifton RP, Dluhy RG. Evaluation of the dexamethasone suppression test for the diagnosis of glucocorticoid-remediable aldosteronism. J Clin Endocrinol Metab. 1997;82:3570-3. https://doi.org/10,1210 / jcem.82.11.4381
7. Lifton RP, Dluhy RG, Powers M, Rich GM, Cook S, Ulick S, Lalouel JM. A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature. 1992;355:262-5. https://doi.org/10.1038/355262a0
8. White PC, Curnow KM, Pascoe L. Disorders of steroid 11 beta-hydroxylase isozymes. Endocr Rev. 1994;15(4):421-38. https://doi.org/10.1210/ edrv-15-4-421
9. Ferrari P, Bianchetti M, Frey FJ. Juvenile hypertension, the role of genetically altered steroid metabolism. Horm Res. 2001;55(5):213-23. https://doi.org/10.1159/000049999
10. Rich GM, Ulick S, Cook S, Wang JZ, Lifton RP, Dluhy RG. Glucocorticoid-remediable aldosteronism in a large kindred: clinical spectrum and diagnosis using a characteristic biochemical phenotype. Ann Intern Med. 1992;116:813-20. https://doi.org/10.7326/0003-4819-116-10-813
11. Stowasser M, Bachmann AW, Huggard PR, Rossetti TR, Gordon RD. Severity of hypertension in familial hyperaldosteronism type I: relationship to gender and degree of biochemical disturbance. J Clin Endocrinol Metab. 2000;85(6):2160-6. https://doi.org/10.1210/ jcem.85. 6.6651
12. Yokota K, Ogura T, Kishida M, Suzuki J, Otsuka F, Mimura Y, Oishi T, Hirata M, Tobe K, Makino H. Japanese family with glucocorticoid-remediable aldosteronism diagnosed by long-polymerase chain reaction. Hypertens Res. 2001;24:589-94. https://doi.org/10.1291/hypres. 24.589
13. Mulatero P, di Cella SM, Williams TA, Milan A, Mengozzi G, Chiandussi L, Gomez-Sanchez CE, Veglio F. Glucocorticoid remediable aldosteronism: low morbidity and mortality in a four-generation Italian pedigree. J Clin Endocrinol Metab. 2002;87:3187-91. doi: 10,1210 / jcem.87.7.8647
14. Ding W, Liu L, Hu R, Xu M, Chen J. Clinical and gene mutation studies on a Chinese pedigree with glucocorticoidremediable aldosteronism. Chin Med J (Engl). 2002;115(7):979-82. PMID: 12150724
15. Vonend O, Altenhenne C, Büchner NJ, Dekomien G, Maser-Gluth C, Weiner SM, Sellin L, Hofebauer S, Epplen JT, Rump LC. A German family with glucocorticoid-remediable aldosteronism. Nephrol Dial Transplant. 2007;22(4):1123-30. https://doi.org/10.1093/ndt/gfl706
16. Lee IS, Kim SY, Jang HW, Kim MK, Lee JH, Lee YH, Jo YS. Genetic analyses of the chimeric CYP11B1/CYP11B2 gene in a Korean family with glucocorticoid-remediable aldosteronism. J Korean Med Sci. 2010;25(9):1379-83. https://doi.org/10.3346/jkms.2010.25.9.1379
17. Aglony M, Martínez-Aguayo A, Carvajal CA, Campino C, García H, Bancalari R, Bolte L, Avalos C, Loureiro C, Trejo P, Brinkmann K, Giadrosich V, Mericq V, Rocha A, Avila A, Perez V, Inostroza A, Fardella CE. Frequency of familial hyperaldosteronism type 1 in a hypertensive pediatric population: clinical and biochemical presentation. Hypertension. 2011;57:1117-21. https://doi.org/10.1161/HYPERTENSIONAHA.110.168740
18. Dluhy RG, Anderson B, Harlin B, Ingelfinger J, Lifton R. Glucocorticoid-remediable aldosteronism is associated with severe hypertension in early childhood. J Pediatr. 2001;138:715-20. https://doi.org/10,1067 / mpd.2001.112648
19. Litchfield WR, Anderson BF, Weiss RJ, Lifton RP, Dluhy RG. Intracranial aneurysm and hemorrhagic stroke in glucocorticoid-remediable aldosteronism. Hypertension. 1998;31:445-50. https://doi.org/10.1161/01. HYP.31.1.445
20. Чихладзе Н.М., Арабидзе Г.Г., Stowasser М., Gordon R.D., Алексеенков А.Д., Судомоина М.А., Фаворова О.О. Выявление химерного гена 11β-гидроксилазы/альдостеронсинтазы у больных с глюкокортикоид-зависимой семейной формой гиперальдостеронизма I. Артериальная гипертензия. 1998;4:57-8 [Chikhladze NM, Arabidze GG, Stowasser M, Gordon RD, Alekseenkov AD, Sudomoina MA, Favorova OO. Vyyavlenie khimernogo gena 11β-gidroksilazy/al'dosteronsintazy u bol'nykh s glyukokortikoid-zavisimoi semeinoi formoi giperal'dosteronizma I. Arterial'naya gipertenziya. 1998;4:57-8 (In Russ.)].
21. Jonsson JR, Klemm SA, Tunny TJ, Stowasser M, Gordon RD. A new genetic test for familial hyperaldosteronism type I aids in the detection of curable hypertension. Biochem Biophys Res Commun. 1995;207:565-71. https://doi.org/10,1006 / bbrc.1995.1225
22. Mulatero P, Tizzani D, Viola A, Bertello C, Monticone S, Mengozzi G, Schiavone D, Williams TA, Einaudi S, La Grotta A, Rabbia F, Veglio F. Prevalence and characteristics of familial hyperaldosteronism: the PATOGEN study (Primary Aldosteronism in TOrino-GENetic forms). Hypertension. 2011;58(5):797-803. https://doi.org/10.1161/HYPERTENSIONAHA.111.175083
23. Ganguly A, GangulyAJ, Dowdy JA. Luetscher GA. MELADA; Anomalous Postural Response of Plasma Aldosterone Concentration In Patients With Aldosterone-Producing Adrenal Adenoma. J Clin Endocrinol Metab. 1973;36(2):401-4. https://doi.org/10.1210/jcem-36-2-401
24. Шхвацабая И.К., Чихладзе Н.М. Гиперальдостеронизм и артериальная гипертония. М.: Медицина, 1984; 136 с. [Shkhvatsabaya IK, Chikhladze NM. Giperal'dosteronizm i arterial'naya gipertoniya. M.: Meditsina, 1984; 136 p. (In Russ.)].
25. Ganguly A, Grim CE, Weinberger MH. Anomalous postural aldosterone response in glucocorticoid-suppressible hyperaldosteronism.
N Engl J Med. 1981;305:991-3. https://doi.org/ 10,1056 / NEJM 198110223051706
26. Mulatero P, di Cella SM, Monticone S, Schiavone D, Manzo M, Mengozzi G, Rabbia F, Terzolo M, Gomez-Sanchez EP, Gomez-Sanchez CE, Veglio F. 18-Hydroxycorticosterone, 18-hydroxycortisol, and 18-oxocortisol in the diagnosis of primary aldosteronism and its subtypes. J Clin Endocrinol Metab. 2012;97:881-9. https://doi.org/10,1210 / jc.2011-2384
27. Fardella CE, Mosso L, Gómez-Sánchez C, Cortés P, Soto J, Gómez L, Pinto M, Huete A, Oestreicher E, Foradori A, Montero J. Primary hyperaldosteronism in essential hypertensives: prevalence, biochemical profile, and molecular biology. J Clin Endocrinol Metab. 2000;85:1863-7. https://doi.org/10,1210 / jcem.85.5.6596
28. Lifton RP, Dluhy RG, Powers M, Rich GM, Cook S, Ulick S, Lalouel JM. A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature. 1992;355:262-5. https://doi.org/10,1038 / 355262a0
29. Funder JW, Carey RM, Mantero F, Murad MH, Reincke M, Shibata H, Stowasser M, Young WF Jr. The Management of Primary Aldosteronism: Case Detection, Diagnosis, and Treatment: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2016;101(5):1889-916. https://doi.org/10.1210/jc.2015-4061
30. Mulatero P, Bertello C, Verhovez A, Rossato D, Giraudo G, Mengozzi G, Limerutti G, Avenatti E, Tizzani D, Veglio F. Differential diagnosis of primary aldosteronism subtypes. Curr Hypertens Rep. 2009;11(3):21723. PMID: 19442332
31. Stowasser M, Bachmann AW, Huggard PR, Rossetti TR, Gordon RD. Treatment of familial hyperaldosteronism type I: only partial suppression of adrenocorticotropin required to correct hypertension. J Clin Endocrinol Metab. 2000;85:3313-8. https://doi.org/10,1210 / jcem. 85.9.6834
________________________________________________
1. Zennaro MC, Jeunemaitre X. SFE/SFHTA/AFCE consensus on primary aldosteronism, part 5: Genetic diagnosis of primary aldosteronism. Ann Endocrinol (Paris). 2016;77(3):214-9. https://doi.org/ 10.1016/ j.ando.2016.02.00
2. Salti IS, Stiefel M, Ruse JL, Laidlaw JC. Non-tumorous "primary" aldosteronism. I. Type relieved by glucocorticoid (glucocorticoid-remediable aldosteronism). Can Med Assoc J. 1969;12;101(1):1-10. PMID: 5793351
3. Fallo F, Sonino N, Armanini D, Luzzi T, Pedini F, Pasini C, Mantero F. A new family with dexamethasone‐suppressible hyperaldosteronism: aldosterone unresponsiveness to angiotensin II. Clinical Endocrin. 1985;22(6):777-85. https://doi.org/10.1111/j.1365-2265.1985.tb00168.x
4. Sutherland DJ, Ruse JL, Laidlaw JC. Hypertension, increased aldosterone secretion and low plasma renin activity relieved by dexamethasone. Can Med Assoc J. 1966;95(22):1109-19. PMID:4288576
5. Miura K, Yoshinaga K, Goto K, Katsushima I, Maebashi M, Demura H, Iino M, Demura R, Torikai T. A case of glucocorticoid-responsive hyperaldosteronism. J Clin Endocrinol Metab. 1968;28:1807-15. https://doi.org/10.1210/jcem-28-12-1807
6. Litchfield WR, New MI, Coolidge C, Lifton RP, Dluhy RG. Evaluation of the dexamethasone suppression test for the diagnosis of glucocorticoid-remediable aldosteronism. J Clin Endocrinol Metab. 1997;82:3570-3. https://doi.org/10,1210 / jcem.82.11.4381
7. Lifton RP, Dluhy RG, Powers M, Rich GM, Cook S, Ulick S, Lalouel JM. A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature. 1992;355:262-5. https://doi.org/10.1038/355262a0
8. White PC, Curnow KM, Pascoe L. Disorders of steroid 11 beta-hydroxylase isozymes. Endocr Rev. 1994;15(4):421-38. https://doi.org/10.1210/ edrv-15-4-421
9. Ferrari P, Bianchetti M, Frey FJ. Juvenile hypertension, the role of genetically altered steroid metabolism. Horm Res. 2001;55(5):213-23. https://doi.org/10.1159/000049999
10. Rich GM, Ulick S, Cook S, Wang JZ, Lifton RP, Dluhy RG. Glucocorticoid-remediable aldosteronism in a large kindred: clinical spectrum and diagnosis using a characteristic biochemical phenotype. Ann Intern Med. 1992;116:813-20. https://doi.org/10.7326/0003-4819-116-10-813
11. Stowasser M, Bachmann AW, Huggard PR, Rossetti TR, Gordon RD. Severity of hypertension in familial hyperaldosteronism type I: relationship to gender and degree of biochemical disturbance. J Clin Endocrinol Metab. 2000;85(6):2160-6. https://doi.org/10.1210/ jcem.85. 6.6651
12. Yokota K, Ogura T, Kishida M, Suzuki J, Otsuka F, Mimura Y, Oishi T, Hirata M, Tobe K, Makino H. Japanese family with glucocorticoid-remediable aldosteronism diagnosed by long-polymerase chain reaction. Hypertens Res. 2001;24:589-94. https://doi.org/10.1291/hypres. 24.589
13. Mulatero P, di Cella SM, Williams TA, Milan A, Mengozzi G, Chiandussi L, Gomez-Sanchez CE, Veglio F. Glucocorticoid remediable aldosteronism: low morbidity and mortality in a four-generation Italian pedigree. J Clin Endocrinol Metab. 2002;87:3187-91. doi: 10,1210 / jcem.87.7.8647
14. Ding W, Liu L, Hu R, Xu M, Chen J. Clinical and gene mutation studies on a Chinese pedigree with glucocorticoidremediable aldosteronism. Chin Med J (Engl). 2002;115(7):979-82. PMID: 12150724
15. Vonend O, Altenhenne C, Büchner NJ, Dekomien G, Maser-Gluth C, Weiner SM, Sellin L, Hofebauer S, Epplen JT, Rump LC. A German family with glucocorticoid-remediable aldosteronism. Nephrol Dial Transplant. 2007;22(4):1123-30. https://doi.org/10.1093/ndt/gfl706
16. Lee IS, Kim SY, Jang HW, Kim MK, Lee JH, Lee YH, Jo YS. Genetic analyses of the chimeric CYP11B1/CYP11B2 gene in a Korean family with glucocorticoid-remediable aldosteronism. J Korean Med Sci. 2010;25(9):1379-83. https://doi.org/10.3346/jkms.2010.25.9.1379
17. Aglony M, Martínez-Aguayo A, Carvajal CA, Campino C, García H, Bancalari R, Bolte L, Avalos C, Loureiro C, Trejo P, Brinkmann K, Giadrosich V, Mericq V, Rocha A, Avila A, Perez V, Inostroza A, Fardella CE. Frequency of familial hyperaldosteronism type 1 in a hypertensive pediatric population: clinical and biochemical presentation. Hypertension. 2011;57:1117-21. https://doi.org/10.1161/HYPERTENSIONAHA.110.168740
18. Dluhy RG, Anderson B, Harlin B, Ingelfinger J, Lifton R. Glucocorticoid-remediable aldosteronism is associated with severe hypertension in early childhood. J Pediatr. 2001;138:715-20. https://doi.org/10,1067 / mpd.2001.112648
19. Litchfield WR, Anderson BF, Weiss RJ, Lifton RP, Dluhy RG. Intracranial aneurysm and hemorrhagic stroke in glucocorticoid-remediable aldosteronism. Hypertension. 1998;31:445-50. https://doi.org/10.1161/01. HYP.31.1.445
20. [Chikhladze NM, Arabidze GG, Stowasser M, Gordon RD, Alekseenkov AD, Sudomoina MA, Favorova OO. Vyyavlenie khimernogo gena 11β-gidroksilazy/al'dosteronsintazy u bol'nykh s glyukokortikoid-zavisimoi semeinoi formoi giperal'dosteronizma I. Arterial'naya gipertenziya. 1998;4:57-8 (In Russ.)].
21. Jonsson JR, Klemm SA, Tunny TJ, Stowasser M, Gordon RD. A new genetic test for familial hyperaldosteronism type I aids in the detection of curable hypertension. Biochem Biophys Res Commun. 1995;207:565-71. https://doi.org/10,1006 / bbrc.1995.1225
22. Mulatero P, Tizzani D, Viola A, Bertello C, Monticone S, Mengozzi G, Schiavone D, Williams TA, Einaudi S, La Grotta A, Rabbia F, Veglio F. Prevalence and characteristics of familial hyperaldosteronism: the PATOGEN study (Primary Aldosteronism in TOrino-GENetic forms). Hypertension. 2011;58(5):797-803. https://doi.org/10.1161/HYPERTENSIONAHA.111.175083
23. Ganguly A, GangulyAJ, Dowdy JA. Luetscher GA. MELADA; Anomalous Postural Response of Plasma Aldosterone Concentration In Patients With Aldosterone-Producing Adrenal Adenoma. J Clin Endocrinol Metab. 1973;36(2):401-4. https://doi.org/10.1210/jcem-36-2-401
24. [Shkhvatsabaya IK, Chikhladze NM. Giperal'dosteronizm i arterial'naya gipertoniya. M.: Meditsina, 1984; 136 p. (In Russ.)].
25. Ganguly A, Grim CE, Weinberger MH. Anomalous postural aldosterone response in glucocorticoid-suppressible hyperaldosteronism.
N Engl J Med. 1981;305:991-3. https://doi.org/ 10,1056 / NEJM 198110223051706
26. Mulatero P, di Cella SM, Monticone S, Schiavone D, Manzo M, Mengozzi G, Rabbia F, Terzolo M, Gomez-Sanchez EP, Gomez-Sanchez CE, Veglio F. 18-Hydroxycorticosterone, 18-hydroxycortisol, and 18-oxocortisol in the diagnosis of primary aldosteronism and its subtypes. J Clin Endocrinol Metab. 2012;97:881-9. https://doi.org/10,1210 / jc.2011-2384
27. Fardella CE, Mosso L, Gómez-Sánchez C, Cortés P, Soto J, Gómez L, Pinto M, Huete A, Oestreicher E, Foradori A, Montero J. Primary hyperaldosteronism in essential hypertensives: prevalence, biochemical profile, and molecular biology. J Clin Endocrinol Metab. 2000;85:1863-7. https://doi.org/10,1210 / jcem.85.5.6596
28. Lifton RP, Dluhy RG, Powers M, Rich GM, Cook S, Ulick S, Lalouel JM. A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature. 1992;355:262-5. https://doi.org/10,1038 / 355262a0
29. Funder JW, Carey RM, Mantero F, Murad MH, Reincke M, Shibata H, Stowasser M, Young WF Jr. The Management of Primary Aldosteronism: Case Detection, Diagnosis, and Treatment: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2016;101(5):1889-916. https://doi.org/10.1210/jc.2015-4061
30. Mulatero P, Bertello C, Verhovez A, Rossato D, Giraudo G, Mengozzi G, Limerutti G, Avenatti E, Tizzani D, Veglio F. Differential diagnosis of primary aldosteronism subtypes. Curr Hypertens Rep. 2009;11(3):21723. PMID: 19442332
31. Stowasser M, Bachmann AW, Huggard PR, Rossetti TR, Gordon RD. Treatment of familial hyperaldosteronism type I: only partial suppression of adrenocorticotropin required to correct hypertension. J Clin Endocrinol Metab. 2000;85:3313-8. https://doi.org/10,1210 / jcem. 85.9.6834
1 ФГБУ «Национальный медицинский исследовательский центр кардиологии» Минздрава России, Москва, Россия;
2 ФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России, Москва, Россия
________________________________________________
Н.М. ЧИХЛАДЗЕ 1, О.О. ФАВОРОВА 1,2, И.Е. ЧАЗОВА 1
1 ФГБУ «Национальный медицинский исследовательский центр кардиологии» Минздрава России, Москва, Россия;
2 ФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России, Москва, Россия