Аннотация
Моногенные формы артериальной гипертензии (АГ) представляют собой отдельную категорию патологических состояний, характеризующихся нарушениями в регуляции артериального давления почками и надпочечниками. Вследствие редкости описываемой в данной статье патологии отсутствие своевременной диагностики зачастую приводит к необратимым изменениям, и достижение нормотензии возможно лишь при помощи оперативного вмешательства. Такие изменения возникают вследствие мутаций, приводящих к избыточной абсорбции электролитов и перераспределению внеклеточной жидкости в системный кровоток. Знание данных состояний необходимо с целью расширения диагностического поиска причины АГ как у детей, так и у взрослых, ввиду прямого влияния на дальнейший выбор стратегии лечения и успех проводимой терапии. Достижение нормотензии и предотвращение осложнений возможно при ранней диагностике и своевременном начале лечения, а также соблюдении специальных терапевтических схем и схем хирургического лечения, направленных на конкретное звено в патофизиологической цепи.
Литература
- Bourdeau I., El Ghorayeb N., Gagnon N., Lacroix A. Management of endocrine disease: Differential diagnosis, investigation and therapy of bilateral adrenal incidentalomas. Eur. J. Endocrinol. 2018; 179 (2); R57–67. Retrieved Jul 11, 2021. DOI: 10.1530/EJE-18-0296
- Benjamin E.J., Virani S.S., Callaway C.W., Chamberlain A.M., Chang A.R., Cheng S. et al. Heart disease and stroke statistics-2018 update: a report from the American Heart Association. Circulation. 2018; 137: e67–492. 10.1161/CIR.0000000000000558
- Jackson S.L., Zhang Z., Wiltz J.L., Loustalot F., Ritchey M.D., Goodman A.B. et al. Hypertension among youths – United States, 2001–2016. MMWR. Morb. Mortal Wkly Rep. 2018; 67: 758–62. 10.15585/mmwr. mm6727a2
- Yusuf S., Wood D., Ralston J. The World Heart Federation’s vision for worldwide cardiovascular disease prevention. Lancet. 2015; 386: 399–402. 10.1016/S0140-6736(15)60265-3
- Burrello J., Monticone S., Buffolo F., Tetti M., Veglio F., Williams T.A. et al. Is there a role for genomics in the management of hypertension? Int. J. Mol. Sci. 2017; 18 (6): 1131. DOI: 10.3390/ijms18061131
- Raina R., Krishnappa V., Das A., Amin H., Radhakrishnan Y., Nair N.R., Kusumi K. Overview of monogenic or Mendelian forms of hypertension. Front. Pediatr. 2019; 7: 263. DOI: 10.3389/fped.2019.00263
- Конради А.О. Современные представления о генетике артериальной гипертензии – мозаичная теория, гены-кандидаты, моногенные формы и широкогеномные исследования. Артериальная гипертензия. 2020; 26 (5): 490–500. DOI: 10.18705/1607-419X2020-26-5-490-500
- Simonetti G.D., Mohaupt M.G., Bianchetti M.G. Monogenic forms of hypertension. Eur. J. Pediatr. 2012; 171: 1433–9. DOI: 10.1007/s00431-011-1440-7
- Hamosh A. Online Mendelian inheritance in man. Victor McKusick Magnum Opur. Am. J. Med. Gen. 2021; 185 (11): 3259–65. DOI: 10.1002/ajmg.a.62407
- Cui Y., Tong A., Jiang J., Wang F., Li C. Liddle syndrome: clinical and genetic profiles. J. Clin. Hypertens. 2017; 19: 524–9. DOI: 10.1111/jch.12949
- Балыкова Л.А., Леонтьева И.В., Краснопольская А.В., Садыкова Д.И., Машкина Л.С., Чегодаева И.Ю. и др. Современные подходы к лечению артериальной гипертензии у детей и подростков: обзор клинических рекомендаций. Вопросы современной педиатрии. 2021; 20 (4): 271–81. DOI: 10.15690/vsp.v20i4.2281
- Gennari F.J., Hussain-Khan S., Segal A. An unusual case of metabolic alkalosis: a window into the pathophysiology and diagnosis of this common acidbase disturbance. Am. J. Kidney Dis. 2010; 55: 1130–5. DOI: 10.1053/j.ajkd.2009.11.028
- Александров А.А., Кисляк О.А., Леонтьева И.В. Клинические рекомендации. Диагностика, лечение и профилактика артериальной гипертензии у детей и подростков. Системные гипертензии. 2020; 17 (2): 7–35. DOI: 10.26442/2075082X.2020.2.200126
- Маркель А.Л. Гипертоническая болезнь: генетика, клиника, эксперимент. Российский кардиологический журнал. 2017; 10: 133–9. DOI: 10.15829/1560-4071-2017-10-133-139
- Vehaskari V.M. Heritable forms of hypertension. Pediatr. Nephrol. 2009; 24: 1929–37. DOI: 10.1007/s00467-007-0537-8
- Abbas A., D’Souza J., Jhalid S., Asad-Ur-Rahman F., Limback J., Burt J. et al. Liddle syndrome in association with aortic dissection. Cureus. 2017; 9 (5): e1225. DOI: 10.7759/cureus.1225
- Rossier B.C., Schild L. Epithelial sodium channel: mendelian versus essential hypertension. Hypertension. 2008; 52: 595–600. DOI: 10.1161/HYPERTENSIONAHA.107.097147
- Tapolyai M., Uysal A., Dossabhoy N.R., Zsom L., Szarvas T., Lengvarszky Z. et al. High prevalence of Liddle syndrome phenotype among hypertensive US Veterans in Northwest Louisiana. J. Clin. Hypertens. 2010; 12: 856–60. DOI: 10.1111/j.1751- 7176.2010.00359.x
- Wang L.P., Yang K.Q., Jiang X.J., Wu H.Y., Zhang H.M., Zou Y.B. et al. Prevalence of Liddle syndrome among young hypertension patients of undetermined cause in a Chinese population. J. Clin. Hypertens. 2015; 17: 902–7. DOI: 10.1111/jch.12598
- Melcescu E., Ca K. Syndromes of mineralocorticoid excess. In: Koch C.A., Chrousos G.P. (Eds) Endocrine hypertension: underlying mechanisms and therapy. Tolawa, N.J.: Humana Press; 2013: 33–50. DOI: 10.1007/978-1-60761-548-4_2
- Aziz D.A., Memon F., Rahman A., Ali M. Liddle’s syndrome. J. Ayub. Med. Coll. Abbottabad. 2016; 28: 809–11.
- Melcescu E., Phillips J., Moll G., Subauste J.S., Koch C.A. 11Beta-hydroxylase deficiency and other syndromes of mineralocorticoid excess as a rare cause of endocrine hypertension. Horm. Metab. Res. 2012; 44: 867–78. DOI: 10.1055/s-0032-1321851
- Ehret G.B., Caulfield M.J. Genes for blood pressure: an opportunity to understand hypertension. Eur. Heart J. 2013; 34: 951–61. DOI: 10.1093/eurheartj/ehs455
- Teixeira S.R., Elias P.C., Andrade M.T., Melo A.F., Elias Junior J. The role of imaging in congenital adrenal hyperplasia. Arq. Bras. Endocrinol. Metabol. 2014; 58 (7): 701–8. DOI: 10.1590/0004- 2730000003371
- Aggarwal A., Rodriguez-Buritica D. Monogenic hypertension in children: a review with emphasis on genetics. Adv. Chronic. Kidney Dis. 2017; 24: 372–9. DOI: 10.1053/j.ackd.2017.09.006
- White P.C., Curnow K.M., Pascoe L. Disorders of steroid 11 beta-hydroxylase isozymes. Endocr. Rev. 1994; 15: 421–38. DOI: 10.1210/er.15.4.421
- Izzo J., Sica D., Black H. Hypertension primer: the essentials of high blood pressure: basic science, population science, and clinical management. Philadelphia, PA: Lippincott Williams and Wilkins; 2007.
- Sahay M., Sahay R.K. Low renin hypertension. Indian J. Endocrinol. Metab. 2012; 16: 728–39. DOI: 10.4103/2230-8210.100665
- Luft F.C. Monogenic hypertension: lessons from the genome. Kidney Int. 2001; 60: 381–90. DOI: 10.1046/j.1523-1755.2001.00810.x
- Williams S.S. Advances in genetic hypertension. Curr. Opin. Pediatr. 2007; 19: 192–8. DOI: 10.1097/MOP.0b013e32801e217c
- Palermo M., Quinkler M., Stewart P.M. Apparent mineralocorticoid excess syndrome: an overview. Arq. Bras. Endocrinol. Metabol. 2004; 48: 687–96. DOI: 10.1590/S0004-27302004000500015
- Palermo M., Cossu M., Shackleton C.H. Cure of apparent mineralocorticoid excess by kidney transplantation. N. Engl. J. Med. 1998; 339: 1787–8. DOI: 10.1056/NEJM199812103392414 18Reviews The Bulletin of Bakoulev Center. Cardiovascular Diseases. 2023; 24 (1) DOI: 10.24022/1810-0694-2023-24-1-5-18
- Riepe F.G. Clinical and molecular features of type 1 pseudohypoaldosteronism. Horm. Res. 2009; 72: 1–9. DOI: 10.1159/000224334
- Padmanabhan S., Caulfield M., Dominiczak A.F. Genetic and molecular aspects of hypertension. Circ. Res. 2015; 116: 937–59. DOI: 10.1161/CIRCRESAHA.116.303647
- Ellison D.H. Pseudohypoaldosteronism Type II. In: Adam M.P., Ardinger H.H., Pagon R.A., Wallace S.E., Bean L.J.H., Stephens K., Amemiya A. (Eds) Gene Reviews ((R)). Seattle, W.A.: University of Washington; 1993.
- Pathare G., Hoenderop J.G., Bindels R.J., San-Cristobal P. A molecular update on pseudohypoaldosteronism type II. Am. J. Physiol. Renal. Physiol. 2013; 305: F1513–20. DOI: 10.1152/ajprenal.00440.2013
- Boyden L.M., Choi M., Choate K.A., NelsonWilliams C.J., Farhi A., Toka H.R. et al. Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature. 2012; 482: 98–102. DOI: 10.1038/nature10814
- ’shaughnessy K.M. Gordon syndrome: a continuing story. Pediatr. Nephrol. 2015; 30: 1903–8. DOI: 10.1007/s00467-014-2956-7
- Pascoe L., Curnow K.M., Slutsker L., Connell J.M., Speiser P.W., New M.I. et al. Glucocorticoidsuppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2. Proc. Natl. Acad. Sci. USA. 1992; 89: 8327–31. DOI: 10.1073/pnas.89.17.8327
- Stowasser M., Bachmann A.W., Huggard P.R., Rossetti T.R., Gordon R.D. Treatment of familial hyperaldosteronism type I: only partial suppression of adrenocorticotropin required to correct hypertension. J. Clin. Endocrinol. Metab. 2000; 85: 3313–8. DOI: 10.1210/jcem.85.9.6834
- Sutherland D.J., Ruse J.L., Laidlaw J.C. Hypertension, increased aldosterone secretion and low plasma renin activity relieved by dexamethasone. Can. Med. Assoc. J. 1966; 95: 1109–19.
- Gates L.J., Benjamin N., Haites N.E., Macconnachie A.A., Mclay J.S. Is random screening of value in detecting glucocorticoid-remediable aldosteronism within a hypertensive population? J. Hum. Hypertens. 2001; 15: 173–6. DOI: 10.1038/sj.jhh.1001152
- Lee I.S., Kim S.Y., Jang H.W., Kim M.K., Lee J.H., Lee Y.H. et al. Genetic analyses of the chimeric CYP11B1/CYP11B2 gene in a Korean family with glucocorticoid-remediable aldosteronism. J. Korean Med. Sci. 2010; 25: 1379–83. DOI: 10.3346/jkms.2010.25.9.1379
- Peng J., Liu Z., Luo C., Chen L., Hou X., Xiao L. et al. Treatment of cervical artery dissection: antithrombotics, thrombolysis, and endovascular therapy. Biomed. Res. Int. 2017; 2017: 3072098. DOI: 10.1155/2017/3072098
- Hyland K., Perkins J. Persistent hyperkalemia status postadrenalectomy for primary aldosteronism. AACE Clin. Case Rep. 2016; 2 (3): e264–e267. DOI: 10.4158/EP15812.CR
- Litchfield W.R., Anderson B.F., Weiss R.J., Lifton R.P., Dluhy R.G. Intracranial aneurysm and hemorrhagic stroke in glucocorticoid-remediable aldosteronism. Hypertension. 1998; 31: 445–50. DOI: 10.1161/01. HYP.31.1.445
- Torpy D.J., Gordon R.D., Lin J.P., Huggard P.R., Taymans S.E., Stowasser M. et al. Familial hyperaldosteronism type II: description of a large kindred and exclusion of the aldosterone synthase (CYP11B2) gene. J. Clin. Endocrinol. Metab. 1998. 83: 3214–8. DOI: 10.1210/jc.83.9.3214
- Fardella C.E., Rodriguez H., Montero J., Zhang G., Vignolo P., Rojas A. et al. Genetic variation in P450c11AS in Chilean patients with low renin hypertension. J. Clin. Endocrinol. Metab. 1996; 81: 4347–51. DOI: 10.1210/jcem.81.12.8954040
- Stowasser M., Wolley M., Wu A., Gordon R.D., Schewe J., Stӧting G. et al. Pathogenesis of familial hyperadolsteronism type II: new concepts involving anion channels. Curr. Hypertens. Rep. 2019; 21: 1–10. DOI: 10.1007/s11906-019-0934-y
- Scholl U.E., Stӧlting G., Schewe J., Thiel A., Tan H., NelsonWilliams C. et al. CLCN2 chloride channel mutations in familial hyperaldosteronism type II. Nat. Genet. 2018; 50: 349–54. DOI: 10.1038/s41588-018-0048-5
- Young W.F. Primary aldosteronism: renaissance of a syndrome. Clin. Endocrinol. 2007; 66: 607–18. DOI: 10.1111/j.1365-2265.2007.02775.x
- Scholl U.E., Stӧlting G., Nelson-Williams C., Vichot A.A., Choi M., Loring E. et al. Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism. eLife. 2015; 4: e063115. DOI: 10.7554/eLife.06315
- Mikhail M.I., Singh A.K. Von Hippel Lindau syndrome. [Updated 2022 Feb 2]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan. Available from: https://www.ncbi.nlm.nih.gov/books/NBK459242
- Neumann H.P., Bausch B., Mcwhinney S.R., Bender B.U., Gimm O. et al. Germ-line mutations in nonsyndromic pheochromocytoma. N. Engl. J. Med. 2002; 346: 1459–66. DOI: 10.1056/NEJMoa020152
- Jhiang S.M., Chiu I.M., Mazzaferri E.L. An STS in the human PTC oncogene located at 10q11.2. Nucl. Acids Res. 1991; 19 (15): 4303. DOI: 10.1093/nar/19.15.4303
- Ledbetter D.H., Rich D.C., O’connell P., Leppert M., Carey J.C. Precise localization of NF1 to 17q11.2 by balanced translocation. Am. J. Hum. Genet. 1989; 44: 20–4.
- Welander J., Larsson C., Backdahl M., Hareni N., Sivler T., Brauckhoff M. et al. Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas. Hum. Mol. Genet. 2012; 21: 5406–16. DOI: 10.1093/hmg/dds402
- Lenders J.W., Duh Q.Y., Eisenhofer G., GimenezRoqueplo A.P., Grebe S.K., Murad M.H. et al. Pheochromocytoma and paraganglioma: an Endocrine Society clinical practice guideline. J. Clin. Endocrinol. Metab. 2014; 99: 1915–42. DOI: 10.1210/jc.2014-1498.
- Germain-Lee E.L. Management of pseudohypoparathyroidism. Curr. Opin. Pediatr. 2019; 31 (4): 537–49. DOI: 10.1097/MOP. 0000000000000783
- Luft F.C. Mendelian forms of human hypertension and mechanisms of disease. In: Encyclopedic Reference of Genomics and Proteomics in Molecular Medicine, 2006. DOI: 10.1007/3-540-29623-9_0730
Об авторах
- Бокерия Лео Антонович, академик РАН, Президент Центра; ORCID
- Абдулгасанов Рамиз Алиевич, д-р мед. наук, гл. науч. сотр.; ORCID
- Гасымов Эмиль Гадирович, врач-ординатор; ORCID
- Абдулгасанова Мехрибан Рамизовна, врач-соискатель; ORCID
