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Поражение почек при орфанных наследственных заболеваниях
Поражение почек при орфанных наследственных заболеваниях
Моисеев С.В., Шилов Е.М. Поражение почек при орфанных наследственных заболеваниях. Терапевтический архив. 2024;96(6):559–564. DOI: 10.26442/00403660.2024.06.202722
© ООО «КОНСИЛИУМ МЕДИКУМ», 2024 г.
© ООО «КОНСИЛИУМ МЕДИКУМ», 2024 г.
________________________________________________
Материалы доступны только для специалистов сферы здравоохранения. Авторизуйтесь или зарегистрируйтесь.
Аннотация
При редких наследственных заболеваниях могут наблюдаться гломерулопатии, тубулопатии, поликистоз, аномалии почек и мочевыводящих путей, уролитиаз, злокачественные или доброкачественные опухоли. Наследственные нефропатии в первую очередь следует предполагать при появлении признаков поражения почек в детском, подростковом или молодом возрасте и/или при наличии семейного анамнеза. При системных заболеваниях важное диагностическое значение имеют внепочечные проявления (например, нейросенсорная тугоухость при синдроме Альпорта или отложение кристаллов цистина в роговице при нефропатическом цистинозе). Для подтверждения диагноза моногенного наследственного заболевания проводят молекулярно-генетическое исследование. При некоторых орфанных заболеваниях, поражающих почки, таких как болезнь Фабри, цистиноз, первичная гипероксалурия 1-го типа и атипичный гемолитико-уремический синдром, возможна специфическая патогенетическая терапия.
Ключевые слова: орфанные заболевания, нефропатия, молекулярно-генетическое исследование, лечение
Keywords: orphan diseases, kidney involvement, genetic tests, whole-exome sequencing, treatment
Ключевые слова: орфанные заболевания, нефропатия, молекулярно-генетическое исследование, лечение
________________________________________________
Keywords: orphan diseases, kidney involvement, genetic tests, whole-exome sequencing, treatment
Полный текст
Список литературы
1. Joly D, Béroud C, Grünfeld JP. Rare inherited disorders with renal involvement-approach to the patient. Kidney Int. 2015;87(5):901-8. DOI:10.1038/ki.2014.432
2. Nguengang Wakap S, Lambert DM, Orly A, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28(2):165-73. DOI:10.1038/s41431-019-0508-0
3. Boycott KM, Lau LP, Cutillo CM, Austin CP. International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases. EMBO Mol Med. 2019;11(5):e10486. DOI:10.15252/emmm.201910486
4. van der Ven AT, Vivante A, Hildebrandt F. Novel insights into the pathogenesis of monogenic congenital anomalies of the kidney and urinary tract. J Am Soc Nephrol. 2018;29(1):36-50. DOI:10.1681/ASN.2017050561
5. Murugapoopathy V, Gupta IR. A primer on congenital anomalies of the kidneys and urinary tracts (CAKUT). Clin J Am Soc Nephrol. 2020;15(5):723-31. DOI:10.2215/CJN.12581019
6. McConnachie DJ, Stow JL, Mallett AJ. Ciliopathies and the kidney: A review. Am J Kidney Dis. 2021;77(3):410-9. DOI:10.1053/j.ajkd.2020.08.012
7. Руденко Т.Е., Бобкова И.Н., Ставровская Е.В. Современные подходы к консервативной терапии поликистозной болезни почек. Терапевтический архив. 2019;91(6):116-23 [Rudenko TE, Bobkova IN, Stavrovskaya EV. Modern approaches to conservative therapy of polycystic kidney disease. Terapevticheskii Arkhiv (Ter. Arkh.). 2019;91(6):116-23 (in Russian)]. DOI:10.26442/00403660.2019.06.000299
8. Qiu J, Germino GG, Menezes LF. Mechanisms of cyst development in polycystic kidney disease. Adv Kidney Dis Health. 2023;30(3):209-19. DOI:10.1053/j.akdh.2023.03.001
9. Lu J, Xu W, Gong L, et al. Efficacy and safety of tolvaptan versus placebo in the treatment of patients with autosomal dominant polycystic kidney disease: a meta-analysis. Int Urol Nephrol. 2023;55(3):631-40. DOI:10.1007/s11255-022-03353-8
10. Hogan MC, Masyuk TV. Concurrent targeting of vasopressin receptor 2 and somatostatin receptors in autosomal dominant polycystic kidney disease: A promising approach for autosomal dominant polycystic kidney disease treatment? Clin J Am Soc Nephrol. 2023;18(2):154-6. DOI:10.2215/CJN.0000000000000055
11. Bergmann C, Guay-Woodford LM, Harris PC, et al. Polycystic kidney disease. Nat Rev Dis Primers. 2018;4(1):50. DOI:10.1038/s41572-018-0047-y
12. Singh S, Chaurasia A, Gopal N, et al. Treatment strategies for hereditary kidney cancer: current recommendations and updates. Discov Med. 2022;34(173):205-20.
13. Nair N, Chakraborty R, Mahajan Z, et al. Renal manifestations of tuberous sclerosis complex. J Kidney Cancer VHL. 2020;7(3):5-19. DOI:10.15586/jkcvhl.2020.131
14. Varshney N, Kebede AA, Owusu-Dapaah H, et al. A review of von Hippel-Lindau syndrome. J Kidney Cancer VHL. 2017;4(3):20-9. DOI:10.15586/jkcvhl.2017.88
15. Decks E. Belzutifan: first approval. Drugs. 2021;81(16):1921-7. DOI:10.1007/s40265-021-01606-x
16. Gregorio V, Caparali EB, Shojaei A, et al. Alport syndrome: clinical spectrum and therapeutic advances. Kidney Med. 2023;5(5):100631. DOI:10.1016/j.xkme.2023.100631
17. Аксенова М.Е. Синдром Альпорта: современные представления. Нефрология. 2021;25(3):75-83 [Aksenova ME. Alport syndrome: our knowledge update. Nephrology. 2021;25(3):75-83 (in Russian)]. DOI:10.36485/1561-6274-2021-25-3-75-83
18. Dorval G, Servais A, Boyer O. The genetics of steroid-resistant nephrotic syndrome in children. Nephrol Dial Transplant. 2022;37(4):648-51. DOI:10.1093/ndt/gfaa221
19. Boyer O, Dorval G, Servais A. The genetics of steroid-resistant nephrotic syndrome in adults. Nephrol Dial Transplant. 2021;36(9):1600-2. DOI:10.1093/ndt/gfz257
20. Lepori N, Zand L, Sethi S, et al. Clinical and pathological phenotype of genetic causes of focal segmental glomerulosclerosis in adults. Clin Kidney J. 2018;11(2):179-90. DOI:10.1093/ckj/sfx143
21. Sadowski CE, Lovric S, Ashraf S, et al. the SRNS Study Group. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2015;26:1279-89. DOI:10.1681/ASN.2014050489
22. Santín S, Bullich G, Tazón-Vega B, et al. Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol. 2011;6(5):1139-48. DOI:10.2215/CJN.05260610
23. Econimo L, Schaeffer C, Zeni L, et al. Autosomal dominant tubulointerstitial kidney disease: an emerging cause of genetic CKD. Kidney Int Rep. 2022;7(11):2332-44. DOI:10.1016/j.ekir.2022.08.012
24. Mabillard H, Sayer JA, Olinger E. Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease. Nephrol Dial Transplant. 2023;38(2):271-82. DOI:10.1093/ndt/gfab268
25. Downie ML, Lopez Garcia SC, Kleta R, Bockenhauer D. Inherited tubulopathies of the kidney: insights from genetics. Clin J Am Soc Nephrol. 2021;16(4):620-30. DOI:10.2215/CJN.14481119
26. Kermond R, Mallett A, McCarthy H. A clinical approach to tubulopathies in children and young adults. Pediatr Nephrol. 2023;38(3):651-62. DOI:10.1007/s00467-022-05606-1
27. Чеботарева Н.В., Цыгин А.Н., Буланов Н.М., и др. Синдром Фанкони у взрослых и детей. Клиническая фармакология и терапия. 2022;31(1):69-74 [Chebotareva NV, Tsygin AN, Bulanov NM, et al. Fanconi syndrome in adults and children. Klinicheskaya Farmakologiya i Terapiya. 2022;31(1):69-74 (in Russian)]. DOI:10.32756/ 0869-5490-2022-1-69-74
28. Besouw MTP, Kleta R, Bockenhauer D. Bartter and Gitelman syndromes: questions of class. Pediatr Nephrol. 2020;35:1815-24. DOI:10.1007/s00467-019-04371-y
29. Моисеев С.В., Тао Е.А., Моисеев А.С., и др. Клинические проявления и исходы болезни Фабри у 150 взрослых пациентов. Клиническая фармакология и терапия. 2021;30(3):43-51 [Moiseev SV, Tao EA, Moiseev AS, et al. Clinical manifestations and outcomes of Fabry disease in 150 adult patients. Klinicheskaya Farmakologiya i Terapiya. 2021;30(3):43-51 (in Russian)]. DOI:10.32756/ 0869-5490-2021-3-43-51
30. Моисеев А.С., Буланов Н.М., Тао Е.А., и др. Эффективность и безопасность длительной ферментозаместительной терапии агалсидазой альфа и агалсидазой бета у взрослых пациентов с болезнью Фабри. Клиническая фармакология и терапия. 2022;31(4):28-34 [Moiseev AS, Bulanov NM, Tao EA, et al. Efficacy and safety of long-term enzyme replacement therapy with agalsidase alfa or agalsidase beta in adult patients with Fabry disease. Klinicheskaya Farmakologiya i Terapiya. 2022;31(4):28-34 (in Russian)]. DOI:10.32756/0869-5490-2022-4-28-34
31. Чеботарева Н.В., Цыгин А.Н., Буланов Н.М., и др. Цистиноз: патогенез, клинические проявления и лечение. Клиническая фармакология и терапия. 2021;30(1):80-8 [Chebotareva NV, Tsygin AN, Bulanov NM, et al. Cystinosis: pathogenesis, clinical features and treatment. Klinicheskaya Farmakologiya i Terapiya. 2021;30(1):80-8 (in Russian)]. DOI:10.32756/ 0869-5490-2021-1-80-88
32. Emma F, van’t Hoff W, Hohenfellner K, et al. An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis. Kidney Int. 2021;100(5):1112-23. DOI:10.1016/j.kint.2021.06.019
33. Shee K, Stoller ML. Perspectives in primary hyperoxaluria – historical, current and future clinical interventions. Nat Rev Urol. 2022;19(3):137-46. DOI:10.1038/s41585-021-00543-4
34. Michael M, Groothoff JW, Shasha-Lavsky H, et al. Lumasiran for advanced primary hyperoxaluria type 1: phase 3 ILLUMINATE-C trial. Am J Kidney Dis. 2023;81(2):145-55. DOI:10.1053/j.ajkd.2022.05.012
35. Рамеев В.В., Моисеев С.В., Козловская Л.В. AA-амилоидоз при аутовоспалительных заболеваниях. Клиническая фармакология и терапия. 2021;30(4):52-61 [Rameev VV, Moiseev SV, Kozlovskaya LV. AA amyloidosis in autoinflammatory diseases. Klinicheskaya Farmakologiya i Terapiya. 2021;30(4):52-61 (in Russian)].
DOI:10.32756/0869-54902021-4-52-61
36. Моисеев С.В., Рамеев В.В. Дифференциальный диагноз системных аутовоспалительных заболеваний. Клиническая фармакология и терапия. 2022;31(2):5-13 [Moiseev SV, Rameev VV. Differential diagnosis of systemic autoinflammatory diseases. Klinicheskaya Farmakologiya i Terapiya. 2022;31(2):5-13 (in Russian)].
DOI:10.32756/ 0869-5490-2022-2-5-13
37. Damy T, Garcia-Pavia P, Hanna M, et al. Efficacy and safety of tafamidis doses in the Tafamidis in Transthyretin Cardiomyopathy Clinical Trial (ATTR-ACT) and long-term extension study. Europ J Heart Fail. 2021;23:277-85. DOI:10.1002/ejhf.2027
38. Коротчаева Ю.В., Козловская Н.Л., Демьянова К.А., и др. Атипичный гемолитико-уремический синдром: клиническая картина, диагностика и лечение. Клиническая фармакология и терапия. 2022;31(2):43-50 [Korotchaeva YuV, Kozlovskaya NL, Demyanova KA, et al. Atypical hemolytic-uremic syndrome: clinical presentation, diagnosis and treatment. Klinicheskaya Farmakologiya i Terapiya. 2022;31(2):43-50 (in Russian)]. DOI:10.32756/0869-54902022-2-43-50
39. Козловская Н.Л., Прокопенко Е.И., Эмирова Х.М., Серикова С.Ю. Клинические рекомендации по диагностике и лечению атипичного гемолитико-уремического синдрома. Нефрология и диализ. 2015;17(3):242-64 [Kozlovskaya NL, Prokopenko EI, Emirova KhM, Serikova SYu. Clinical guidelines for diagnosis and treatment of atypical hemolytic uremic syndrome. Nephrology and Dialysis. 2015;17(3):242-64 (in Russian)]. DOI:10.32756/0869-5490-2022-2-43-50
40. Granhøj J, Tougaard B, Lildballe DL, Rasmussen M. Family history is important to identify patients with monogenic causes of adult-onset chronic kidney disease. Nephron. 2022;146(1):49-57. DOI:10.1159/000518175
41. Moiseev S, Tao E, Moiseev A, et al. The benefits of family screening in rare diseases: genetic testing reveals 165 new cases of Fabry disease among at-risk family members of 83 index patients. Genes (Basel). 2022;13(9):1619. DOI:10.3390/genes13091619
2. Nguengang Wakap S, Lambert DM, Orly A, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28(2):165-73. DOI:10.1038/s41431-019-0508-0
3. Boycott KM, Lau LP, Cutillo CM, Austin CP. International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases. EMBO Mol Med. 2019;11(5):e10486. DOI:10.15252/emmm.201910486
4. van der Ven AT, Vivante A, Hildebrandt F. Novel insights into the pathogenesis of monogenic congenital anomalies of the kidney and urinary tract. J Am Soc Nephrol. 2018;29(1):36-50. DOI:10.1681/ASN.2017050561
5. Murugapoopathy V, Gupta IR. A primer on congenital anomalies of the kidneys and urinary tracts (CAKUT). Clin J Am Soc Nephrol. 2020;15(5):723-31. DOI:10.2215/CJN.12581019
6. McConnachie DJ, Stow JL, Mallett AJ. Ciliopathies and the kidney: A review. Am J Kidney Dis. 2021;77(3):410-9. DOI:10.1053/j.ajkd.2020.08.012
7. Rudenko TE, Bobkova IN, Stavrovskaya EV. Modern approaches to conservative therapy of polycystic kidney disease. Terapevticheskii Arkhiv (Ter. Arkh.). 2019;91(6):116-23 (in Russian). DOI:10.26442/00403660.2019.06.000299
8. Qiu J, Germino GG, Menezes LF. Mechanisms of cyst development in polycystic kidney disease. Adv Kidney Dis Health. 2023;30(3):209-19. DOI:10.1053/j.akdh.2023.03.001
9. Lu J, Xu W, Gong L, et al. Efficacy and safety of tolvaptan versus placebo in the treatment of patients with autosomal dominant polycystic kidney disease: a meta-analysis. Int Urol Nephrol. 2023;55(3):631-40. DOI:10.1007/s11255-022-03353-8
10. Hogan MC, Masyuk TV. Concurrent targeting of vasopressin receptor 2 and somatostatin receptors in autosomal dominant polycystic kidney disease: A promising approach for autosomal dominant polycystic kidney disease treatment? Clin J Am Soc Nephrol. 2023;18(2):154-6. DOI:10.2215/CJN.0000000000000055
11. Bergmann C, Guay-Woodford LM, Harris PC, et al. Polycystic kidney disease. Nat Rev Dis Primers. 2018;4(1):50. DOI:10.1038/s41572-018-0047-y
12. Singh S, Chaurasia A, Gopal N, et al. Treatment strategies for hereditary kidney cancer: current recommendations and updates. Discov Med. 2022;34(173):205-20.
13. Nair N, Chakraborty R, Mahajan Z, et al. Renal manifestations of tuberous sclerosis complex. J Kidney Cancer VHL. 2020;7(3):5-19. DOI:10.15586/jkcvhl.2020.131
14. Varshney N, Kebede AA, Owusu-Dapaah H, et al. A review of von Hippel-Lindau syndrome. J Kidney Cancer VHL. 2017;4(3):20-9. DOI:10.15586/jkcvhl.2017.88
15. Decks E. Belzutifan: first approval. Drugs. 2021;81(16):1921-7. DOI:10.1007/s40265-021-01606-x
16. Gregorio V, Caparali EB, Shojaei A, et al. Alport syndrome: clinical spectrum and therapeutic advances. Kidney Med. 2023;5(5):100631. DOI:10.1016/j.xkme.2023.100631
17. Aksenova ME. Alport syndrome: our knowledge update. Nephrology. 2021;25(3):75-83 (in Russian). DOI:10.36485/1561-6274-2021-25-3-75-83
18. Dorval G, Servais A, Boyer O. The genetics of steroid-resistant nephrotic syndrome in children. Nephrol Dial Transplant. 2022;37(4):648-51. DOI:10.1093/ndt/gfaa221
19. Boyer O, Dorval G, Servais A. The genetics of steroid-resistant nephrotic syndrome in adults. Nephrol Dial Transplant. 2021;36(9):1600-2. DOI:10.1093/ndt/gfz257
20. Lepori N, Zand L, Sethi S, et al. Clinical and pathological phenotype of genetic causes of focal segmental glomerulosclerosis in adults. Clin Kidney J. 2018;11(2):179-90. DOI:10.1093/ckj/sfx143
21. Sadowski CE, Lovric S, Ashraf S, et al. the SRNS Study Group. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2015;26:1279-89. DOI:10.1681/ASN.2014050489
22. Santín S, Bullich G, Tazón-Vega B, et al. Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol. 2011;6(5):1139-48. DOI:10.2215/CJN.05260610
23. Econimo L, Schaeffer C, Zeni L, et al. Autosomal dominant tubulointerstitial kidney disease: an emerging cause of genetic CKD. Kidney Int Rep. 2022;7(11):2332-44. DOI:10.1016/j.ekir.2022.08.012
24. Mabillard H, Sayer JA, Olinger E. Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease. Nephrol Dial Transplant. 2023;38(2):271-82. DOI:10.1093/ndt/gfab268
25. Downie ML, Lopez Garcia SC, Kleta R, Bockenhauer D. Inherited tubulopathies of the kidney: insights from genetics. Clin J Am Soc Nephrol. 2021;16(4):620-30. DOI:10.2215/CJN.14481119
26. Kermond R, Mallett A, McCarthy H. A clinical approach to tubulopathies in children and young adults. Pediatr Nephrol. 2023;38(3):651-62. DOI:10.1007/s00467-022-05606-1
27. Chebotareva NV, Tsygin AN, Bulanov NM, et al. Fanconi syndrome in adults and children. Klinicheskaya Farmakologiya i Terapiya. 2022;31(1):69-74 (in Russian).
DOI:10.32756/ 0869-5490-2022-1-69-74
28. Besouw MTP, Kleta R, Bockenhauer D. Bartter and Gitelman syndromes: questions of class. Pediatr Nephrol. 2020;35:1815-24. DOI:10.1007/s00467-019-04371-y
29. Moiseev SV, Tao EA, Moiseev AS, et al. Clinical manifestations and outcomes of Fabry disease in 150 adult patients. Klinicheskaya Farmakologiya i Terapiya. 2021;30(3):43-51 (in Russian). DOI:10.32756/ 0869-5490-2021-3-43-51
30. Moiseev AS, Bulanov NM, Tao EA, et al. Efficacy and safety of long-term enzyme replacement therapy with agalsidase alfa or agalsidase beta in adult patients with Fabry disease. Klinicheskaya Farmakologiya i Terapiya. 2022;31(4):28-34 (in Russian). DOI:10.32756/0869-5490-2022-4-28-34
31. Chebotareva NV, Tsygin AN, Bulanov NM, et al. Cystinosis: pathogenesis, clinical features and treatment. Klinicheskaya Farmakologiya i Terapiya. 2021;30(1):80-8 (in Russian). DOI:10.32756/ 0869-5490-2021-1-80-88
32. Emma F, van’t Hoff W, Hohenfellner K, et al. An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis. Kidney Int. 2021;100(5):1112-23. DOI:10.1016/j.kint.2021.06.019
33. Shee K, Stoller ML. Perspectives in primary hyperoxaluria – historical, current and future clinical interventions. Nat Rev Urol. 2022;19(3):137-46. DOI:10.1038/s41585-021-00543-4
34. Michael M, Groothoff JW, Shasha-Lavsky H, et al. Lumasiran for advanced primary hyperoxaluria type 1: phase 3 ILLUMINATE-C trial. Am J Kidney Dis. 2023;81(2):145-55. DOI:10.1053/j.ajkd.2022.05.012
35. Rameev VV, Moiseev SV, Kozlovskaya LV. AA amyloidosis in autoinflammatory diseases. Klinicheskaya Farmakologiya i Terapiya. 2021;30(4):52-61 (in Russian).
DOI:10.32756/0869-54902021-4-52-61
36. Moiseev SV, Rameev VV. Differential diagnosis of systemic autoinflammatory diseases. Klinicheskaya Farmakologiya i Terapiya. 2022;31(2):5-13 (in Russian).
DOI:10.32756/ 0869-5490-2022-2-5-13
37. Damy T, Garcia-Pavia P, Hanna M, et al. Efficacy and safety of tafamidis doses in the Tafamidis in Transthyretin Cardiomyopathy Clinical Trial (ATTR-ACT) and long-term extension study. Europ J Heart Fail. 2021;23:277-85. DOI:10.1002/ejhf.2027
38. Korotchaeva YuV, Kozlovskaya NL, Demyanova KA, et al. Atypical hemolytic-uremic syndrome: clinical presentation, diagnosis and treatment. Klinicheskaya Farmakologiya i Terapiya. 2022;31(2):43-50 (in Russian). DOI:10.32756/0869-54902022-2-43-50
39. Kozlovskaya NL, Prokopenko EI, Emirova KhM, Serikova SYu. Clinical guidelines for diagnosis and treatment of atypical hemolytic uremic syndrome. Nephrology and Dialysis. 2015;17(3):242-64 (in Russian). DOI:10.32756/0869-5490-2022-2-43-50
40. Granhøj J, Tougaard B, Lildballe DL, Rasmussen M. Family history is important to identify patients with monogenic causes of adult-onset chronic kidney disease. Nephron. 2022;146(1):49-57. DOI:10.1159/000518175
41. Moiseev S, Tao E, Moiseev A, et al. The benefits of family screening in rare diseases: genetic testing reveals 165 new cases of Fabry disease among at-risk family members of 83 index patients. Genes (Basel). 2022;13(9):1619. DOI:10.3390/genes13091619
2. Nguengang Wakap S, Lambert DM, Orly A, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28(2):165-73. DOI:10.1038/s41431-019-0508-0
3. Boycott KM, Lau LP, Cutillo CM, Austin CP. International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases. EMBO Mol Med. 2019;11(5):e10486. DOI:10.15252/emmm.201910486
4. van der Ven AT, Vivante A, Hildebrandt F. Novel insights into the pathogenesis of monogenic congenital anomalies of the kidney and urinary tract. J Am Soc Nephrol. 2018;29(1):36-50. DOI:10.1681/ASN.2017050561
5. Murugapoopathy V, Gupta IR. A primer on congenital anomalies of the kidneys and urinary tracts (CAKUT). Clin J Am Soc Nephrol. 2020;15(5):723-31. DOI:10.2215/CJN.12581019
6. McConnachie DJ, Stow JL, Mallett AJ. Ciliopathies and the kidney: A review. Am J Kidney Dis. 2021;77(3):410-9. DOI:10.1053/j.ajkd.2020.08.012
7. Руденко Т.Е., Бобкова И.Н., Ставровская Е.В. Современные подходы к консервативной терапии поликистозной болезни почек. Терапевтический архив. 2019;91(6):116-23 [Rudenko TE, Bobkova IN, Stavrovskaya EV. Modern approaches to conservative therapy of polycystic kidney disease. Terapevticheskii Arkhiv (Ter. Arkh.). 2019;91(6):116-23 (in Russian)]. DOI:10.26442/00403660.2019.06.000299
8. Qiu J, Germino GG, Menezes LF. Mechanisms of cyst development in polycystic kidney disease. Adv Kidney Dis Health. 2023;30(3):209-19. DOI:10.1053/j.akdh.2023.03.001
9. Lu J, Xu W, Gong L, et al. Efficacy and safety of tolvaptan versus placebo in the treatment of patients with autosomal dominant polycystic kidney disease: a meta-analysis. Int Urol Nephrol. 2023;55(3):631-40. DOI:10.1007/s11255-022-03353-8
10. Hogan MC, Masyuk TV. Concurrent targeting of vasopressin receptor 2 and somatostatin receptors in autosomal dominant polycystic kidney disease: A promising approach for autosomal dominant polycystic kidney disease treatment? Clin J Am Soc Nephrol. 2023;18(2):154-6. DOI:10.2215/CJN.0000000000000055
11. Bergmann C, Guay-Woodford LM, Harris PC, et al. Polycystic kidney disease. Nat Rev Dis Primers. 2018;4(1):50. DOI:10.1038/s41572-018-0047-y
12. Singh S, Chaurasia A, Gopal N, et al. Treatment strategies for hereditary kidney cancer: current recommendations and updates. Discov Med. 2022;34(173):205-20.
13. Nair N, Chakraborty R, Mahajan Z, et al. Renal manifestations of tuberous sclerosis complex. J Kidney Cancer VHL. 2020;7(3):5-19. DOI:10.15586/jkcvhl.2020.131
14. Varshney N, Kebede AA, Owusu-Dapaah H, et al. A review of von Hippel-Lindau syndrome. J Kidney Cancer VHL. 2017;4(3):20-9. DOI:10.15586/jkcvhl.2017.88
15. Decks E. Belzutifan: first approval. Drugs. 2021;81(16):1921-7. DOI:10.1007/s40265-021-01606-x
16. Gregorio V, Caparali EB, Shojaei A, et al. Alport syndrome: clinical spectrum and therapeutic advances. Kidney Med. 2023;5(5):100631. DOI:10.1016/j.xkme.2023.100631
17. Аксенова М.Е. Синдром Альпорта: современные представления. Нефрология. 2021;25(3):75-83 [Aksenova ME. Alport syndrome: our knowledge update. Nephrology. 2021;25(3):75-83 (in Russian)]. DOI:10.36485/1561-6274-2021-25-3-75-83
18. Dorval G, Servais A, Boyer O. The genetics of steroid-resistant nephrotic syndrome in children. Nephrol Dial Transplant. 2022;37(4):648-51. DOI:10.1093/ndt/gfaa221
19. Boyer O, Dorval G, Servais A. The genetics of steroid-resistant nephrotic syndrome in adults. Nephrol Dial Transplant. 2021;36(9):1600-2. DOI:10.1093/ndt/gfz257
20. Lepori N, Zand L, Sethi S, et al. Clinical and pathological phenotype of genetic causes of focal segmental glomerulosclerosis in adults. Clin Kidney J. 2018;11(2):179-90. DOI:10.1093/ckj/sfx143
21. Sadowski CE, Lovric S, Ashraf S, et al. the SRNS Study Group. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2015;26:1279-89. DOI:10.1681/ASN.2014050489
22. Santín S, Bullich G, Tazón-Vega B, et al. Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol. 2011;6(5):1139-48. DOI:10.2215/CJN.05260610
23. Econimo L, Schaeffer C, Zeni L, et al. Autosomal dominant tubulointerstitial kidney disease: an emerging cause of genetic CKD. Kidney Int Rep. 2022;7(11):2332-44. DOI:10.1016/j.ekir.2022.08.012
24. Mabillard H, Sayer JA, Olinger E. Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease. Nephrol Dial Transplant. 2023;38(2):271-82. DOI:10.1093/ndt/gfab268
25. Downie ML, Lopez Garcia SC, Kleta R, Bockenhauer D. Inherited tubulopathies of the kidney: insights from genetics. Clin J Am Soc Nephrol. 2021;16(4):620-30. DOI:10.2215/CJN.14481119
26. Kermond R, Mallett A, McCarthy H. A clinical approach to tubulopathies in children and young adults. Pediatr Nephrol. 2023;38(3):651-62. DOI:10.1007/s00467-022-05606-1
27. Чеботарева Н.В., Цыгин А.Н., Буланов Н.М., и др. Синдром Фанкони у взрослых и детей. Клиническая фармакология и терапия. 2022;31(1):69-74 [Chebotareva NV, Tsygin AN, Bulanov NM, et al. Fanconi syndrome in adults and children. Klinicheskaya Farmakologiya i Terapiya. 2022;31(1):69-74 (in Russian)]. DOI:10.32756/ 0869-5490-2022-1-69-74
28. Besouw MTP, Kleta R, Bockenhauer D. Bartter and Gitelman syndromes: questions of class. Pediatr Nephrol. 2020;35:1815-24. DOI:10.1007/s00467-019-04371-y
29. Моисеев С.В., Тао Е.А., Моисеев А.С., и др. Клинические проявления и исходы болезни Фабри у 150 взрослых пациентов. Клиническая фармакология и терапия. 2021;30(3):43-51 [Moiseev SV, Tao EA, Moiseev AS, et al. Clinical manifestations and outcomes of Fabry disease in 150 adult patients. Klinicheskaya Farmakologiya i Terapiya. 2021;30(3):43-51 (in Russian)]. DOI:10.32756/ 0869-5490-2021-3-43-51
30. Моисеев А.С., Буланов Н.М., Тао Е.А., и др. Эффективность и безопасность длительной ферментозаместительной терапии агалсидазой альфа и агалсидазой бета у взрослых пациентов с болезнью Фабри. Клиническая фармакология и терапия. 2022;31(4):28-34 [Moiseev AS, Bulanov NM, Tao EA, et al. Efficacy and safety of long-term enzyme replacement therapy with agalsidase alfa or agalsidase beta in adult patients with Fabry disease. Klinicheskaya Farmakologiya i Terapiya. 2022;31(4):28-34 (in Russian)]. DOI:10.32756/0869-5490-2022-4-28-34
31. Чеботарева Н.В., Цыгин А.Н., Буланов Н.М., и др. Цистиноз: патогенез, клинические проявления и лечение. Клиническая фармакология и терапия. 2021;30(1):80-8 [Chebotareva NV, Tsygin AN, Bulanov NM, et al. Cystinosis: pathogenesis, clinical features and treatment. Klinicheskaya Farmakologiya i Terapiya. 2021;30(1):80-8 (in Russian)]. DOI:10.32756/ 0869-5490-2021-1-80-88
32. Emma F, van’t Hoff W, Hohenfellner K, et al. An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis. Kidney Int. 2021;100(5):1112-23. DOI:10.1016/j.kint.2021.06.019
33. Shee K, Stoller ML. Perspectives in primary hyperoxaluria – historical, current and future clinical interventions. Nat Rev Urol. 2022;19(3):137-46. DOI:10.1038/s41585-021-00543-4
34. Michael M, Groothoff JW, Shasha-Lavsky H, et al. Lumasiran for advanced primary hyperoxaluria type 1: phase 3 ILLUMINATE-C trial. Am J Kidney Dis. 2023;81(2):145-55. DOI:10.1053/j.ajkd.2022.05.012
35. Рамеев В.В., Моисеев С.В., Козловская Л.В. AA-амилоидоз при аутовоспалительных заболеваниях. Клиническая фармакология и терапия. 2021;30(4):52-61 [Rameev VV, Moiseev SV, Kozlovskaya LV. AA amyloidosis in autoinflammatory diseases. Klinicheskaya Farmakologiya i Terapiya. 2021;30(4):52-61 (in Russian)].
DOI:10.32756/0869-54902021-4-52-61
36. Моисеев С.В., Рамеев В.В. Дифференциальный диагноз системных аутовоспалительных заболеваний. Клиническая фармакология и терапия. 2022;31(2):5-13 [Moiseev SV, Rameev VV. Differential diagnosis of systemic autoinflammatory diseases. Klinicheskaya Farmakologiya i Terapiya. 2022;31(2):5-13 (in Russian)].
DOI:10.32756/ 0869-5490-2022-2-5-13
37. Damy T, Garcia-Pavia P, Hanna M, et al. Efficacy and safety of tafamidis doses in the Tafamidis in Transthyretin Cardiomyopathy Clinical Trial (ATTR-ACT) and long-term extension study. Europ J Heart Fail. 2021;23:277-85. DOI:10.1002/ejhf.2027
38. Коротчаева Ю.В., Козловская Н.Л., Демьянова К.А., и др. Атипичный гемолитико-уремический синдром: клиническая картина, диагностика и лечение. Клиническая фармакология и терапия. 2022;31(2):43-50 [Korotchaeva YuV, Kozlovskaya NL, Demyanova KA, et al. Atypical hemolytic-uremic syndrome: clinical presentation, diagnosis and treatment. Klinicheskaya Farmakologiya i Terapiya. 2022;31(2):43-50 (in Russian)]. DOI:10.32756/0869-54902022-2-43-50
39. Козловская Н.Л., Прокопенко Е.И., Эмирова Х.М., Серикова С.Ю. Клинические рекомендации по диагностике и лечению атипичного гемолитико-уремического синдрома. Нефрология и диализ. 2015;17(3):242-64 [Kozlovskaya NL, Prokopenko EI, Emirova KhM, Serikova SYu. Clinical guidelines for diagnosis and treatment of atypical hemolytic uremic syndrome. Nephrology and Dialysis. 2015;17(3):242-64 (in Russian)]. DOI:10.32756/0869-5490-2022-2-43-50
40. Granhøj J, Tougaard B, Lildballe DL, Rasmussen M. Family history is important to identify patients with monogenic causes of adult-onset chronic kidney disease. Nephron. 2022;146(1):49-57. DOI:10.1159/000518175
41. Moiseev S, Tao E, Moiseev A, et al. The benefits of family screening in rare diseases: genetic testing reveals 165 new cases of Fabry disease among at-risk family members of 83 index patients. Genes (Basel). 2022;13(9):1619. DOI:10.3390/genes13091619
________________________________________________
2. Nguengang Wakap S, Lambert DM, Orly A, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28(2):165-73. DOI:10.1038/s41431-019-0508-0
3. Boycott KM, Lau LP, Cutillo CM, Austin CP. International collaborative actions and transparency to understand, diagnose, and develop therapies for rare diseases. EMBO Mol Med. 2019;11(5):e10486. DOI:10.15252/emmm.201910486
4. van der Ven AT, Vivante A, Hildebrandt F. Novel insights into the pathogenesis of monogenic congenital anomalies of the kidney and urinary tract. J Am Soc Nephrol. 2018;29(1):36-50. DOI:10.1681/ASN.2017050561
5. Murugapoopathy V, Gupta IR. A primer on congenital anomalies of the kidneys and urinary tracts (CAKUT). Clin J Am Soc Nephrol. 2020;15(5):723-31. DOI:10.2215/CJN.12581019
6. McConnachie DJ, Stow JL, Mallett AJ. Ciliopathies and the kidney: A review. Am J Kidney Dis. 2021;77(3):410-9. DOI:10.1053/j.ajkd.2020.08.012
7. Rudenko TE, Bobkova IN, Stavrovskaya EV. Modern approaches to conservative therapy of polycystic kidney disease. Terapevticheskii Arkhiv (Ter. Arkh.). 2019;91(6):116-23 (in Russian). DOI:10.26442/00403660.2019.06.000299
8. Qiu J, Germino GG, Menezes LF. Mechanisms of cyst development in polycystic kidney disease. Adv Kidney Dis Health. 2023;30(3):209-19. DOI:10.1053/j.akdh.2023.03.001
9. Lu J, Xu W, Gong L, et al. Efficacy and safety of tolvaptan versus placebo in the treatment of patients with autosomal dominant polycystic kidney disease: a meta-analysis. Int Urol Nephrol. 2023;55(3):631-40. DOI:10.1007/s11255-022-03353-8
10. Hogan MC, Masyuk TV. Concurrent targeting of vasopressin receptor 2 and somatostatin receptors in autosomal dominant polycystic kidney disease: A promising approach for autosomal dominant polycystic kidney disease treatment? Clin J Am Soc Nephrol. 2023;18(2):154-6. DOI:10.2215/CJN.0000000000000055
11. Bergmann C, Guay-Woodford LM, Harris PC, et al. Polycystic kidney disease. Nat Rev Dis Primers. 2018;4(1):50. DOI:10.1038/s41572-018-0047-y
12. Singh S, Chaurasia A, Gopal N, et al. Treatment strategies for hereditary kidney cancer: current recommendations and updates. Discov Med. 2022;34(173):205-20.
13. Nair N, Chakraborty R, Mahajan Z, et al. Renal manifestations of tuberous sclerosis complex. J Kidney Cancer VHL. 2020;7(3):5-19. DOI:10.15586/jkcvhl.2020.131
14. Varshney N, Kebede AA, Owusu-Dapaah H, et al. A review of von Hippel-Lindau syndrome. J Kidney Cancer VHL. 2017;4(3):20-9. DOI:10.15586/jkcvhl.2017.88
15. Decks E. Belzutifan: first approval. Drugs. 2021;81(16):1921-7. DOI:10.1007/s40265-021-01606-x
16. Gregorio V, Caparali EB, Shojaei A, et al. Alport syndrome: clinical spectrum and therapeutic advances. Kidney Med. 2023;5(5):100631. DOI:10.1016/j.xkme.2023.100631
17. Aksenova ME. Alport syndrome: our knowledge update. Nephrology. 2021;25(3):75-83 (in Russian). DOI:10.36485/1561-6274-2021-25-3-75-83
18. Dorval G, Servais A, Boyer O. The genetics of steroid-resistant nephrotic syndrome in children. Nephrol Dial Transplant. 2022;37(4):648-51. DOI:10.1093/ndt/gfaa221
19. Boyer O, Dorval G, Servais A. The genetics of steroid-resistant nephrotic syndrome in adults. Nephrol Dial Transplant. 2021;36(9):1600-2. DOI:10.1093/ndt/gfz257
20. Lepori N, Zand L, Sethi S, et al. Clinical and pathological phenotype of genetic causes of focal segmental glomerulosclerosis in adults. Clin Kidney J. 2018;11(2):179-90. DOI:10.1093/ckj/sfx143
21. Sadowski CE, Lovric S, Ashraf S, et al. the SRNS Study Group. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2015;26:1279-89. DOI:10.1681/ASN.2014050489
22. Santín S, Bullich G, Tazón-Vega B, et al. Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol. 2011;6(5):1139-48. DOI:10.2215/CJN.05260610
23. Econimo L, Schaeffer C, Zeni L, et al. Autosomal dominant tubulointerstitial kidney disease: an emerging cause of genetic CKD. Kidney Int Rep. 2022;7(11):2332-44. DOI:10.1016/j.ekir.2022.08.012
24. Mabillard H, Sayer JA, Olinger E. Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease. Nephrol Dial Transplant. 2023;38(2):271-82. DOI:10.1093/ndt/gfab268
25. Downie ML, Lopez Garcia SC, Kleta R, Bockenhauer D. Inherited tubulopathies of the kidney: insights from genetics. Clin J Am Soc Nephrol. 2021;16(4):620-30. DOI:10.2215/CJN.14481119
26. Kermond R, Mallett A, McCarthy H. A clinical approach to tubulopathies in children and young adults. Pediatr Nephrol. 2023;38(3):651-62. DOI:10.1007/s00467-022-05606-1
27. Chebotareva NV, Tsygin AN, Bulanov NM, et al. Fanconi syndrome in adults and children. Klinicheskaya Farmakologiya i Terapiya. 2022;31(1):69-74 (in Russian).
DOI:10.32756/ 0869-5490-2022-1-69-74
28. Besouw MTP, Kleta R, Bockenhauer D. Bartter and Gitelman syndromes: questions of class. Pediatr Nephrol. 2020;35:1815-24. DOI:10.1007/s00467-019-04371-y
29. Moiseev SV, Tao EA, Moiseev AS, et al. Clinical manifestations and outcomes of Fabry disease in 150 adult patients. Klinicheskaya Farmakologiya i Terapiya. 2021;30(3):43-51 (in Russian). DOI:10.32756/ 0869-5490-2021-3-43-51
30. Moiseev AS, Bulanov NM, Tao EA, et al. Efficacy and safety of long-term enzyme replacement therapy with agalsidase alfa or agalsidase beta in adult patients with Fabry disease. Klinicheskaya Farmakologiya i Terapiya. 2022;31(4):28-34 (in Russian). DOI:10.32756/0869-5490-2022-4-28-34
31. Chebotareva NV, Tsygin AN, Bulanov NM, et al. Cystinosis: pathogenesis, clinical features and treatment. Klinicheskaya Farmakologiya i Terapiya. 2021;30(1):80-8 (in Russian). DOI:10.32756/ 0869-5490-2021-1-80-88
32. Emma F, van’t Hoff W, Hohenfellner K, et al. An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis. Kidney Int. 2021;100(5):1112-23. DOI:10.1016/j.kint.2021.06.019
33. Shee K, Stoller ML. Perspectives in primary hyperoxaluria – historical, current and future clinical interventions. Nat Rev Urol. 2022;19(3):137-46. DOI:10.1038/s41585-021-00543-4
34. Michael M, Groothoff JW, Shasha-Lavsky H, et al. Lumasiran for advanced primary hyperoxaluria type 1: phase 3 ILLUMINATE-C trial. Am J Kidney Dis. 2023;81(2):145-55. DOI:10.1053/j.ajkd.2022.05.012
35. Rameev VV, Moiseev SV, Kozlovskaya LV. AA amyloidosis in autoinflammatory diseases. Klinicheskaya Farmakologiya i Terapiya. 2021;30(4):52-61 (in Russian).
DOI:10.32756/0869-54902021-4-52-61
36. Moiseev SV, Rameev VV. Differential diagnosis of systemic autoinflammatory diseases. Klinicheskaya Farmakologiya i Terapiya. 2022;31(2):5-13 (in Russian).
DOI:10.32756/ 0869-5490-2022-2-5-13
37. Damy T, Garcia-Pavia P, Hanna M, et al. Efficacy and safety of tafamidis doses in the Tafamidis in Transthyretin Cardiomyopathy Clinical Trial (ATTR-ACT) and long-term extension study. Europ J Heart Fail. 2021;23:277-85. DOI:10.1002/ejhf.2027
38. Korotchaeva YuV, Kozlovskaya NL, Demyanova KA, et al. Atypical hemolytic-uremic syndrome: clinical presentation, diagnosis and treatment. Klinicheskaya Farmakologiya i Terapiya. 2022;31(2):43-50 (in Russian). DOI:10.32756/0869-54902022-2-43-50
39. Kozlovskaya NL, Prokopenko EI, Emirova KhM, Serikova SYu. Clinical guidelines for diagnosis and treatment of atypical hemolytic uremic syndrome. Nephrology and Dialysis. 2015;17(3):242-64 (in Russian). DOI:10.32756/0869-5490-2022-2-43-50
40. Granhøj J, Tougaard B, Lildballe DL, Rasmussen M. Family history is important to identify patients with monogenic causes of adult-onset chronic kidney disease. Nephron. 2022;146(1):49-57. DOI:10.1159/000518175
41. Moiseev S, Tao E, Moiseev A, et al. The benefits of family screening in rare diseases: genetic testing reveals 165 new cases of Fabry disease among at-risk family members of 83 index patients. Genes (Basel). 2022;13(9):1619. DOI:10.3390/genes13091619
Авторы
С.В. Моисеев*1,2, Е.М. Шилов1
1ФГАОУ ВО «Первый Московский государственный медицинский университет им. И.М. Сеченова» Минздрава России (Сеченовский Университет), Москва, Россия;
2ФГБОУ ВО «Московский государственный университет им. М.В. Ломоносова», Москва, Россия
*avt420034@gmail.com
1Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia;
2Lomonosov Moscow State University, Moscow, Russia
*avt420034@gmail.com
1ФГАОУ ВО «Первый Московский государственный медицинский университет им. И.М. Сеченова» Минздрава России (Сеченовский Университет), Москва, Россия;
2ФГБОУ ВО «Московский государственный университет им. М.В. Ломоносова», Москва, Россия
*avt420034@gmail.com
________________________________________________
1Sechenov First Moscow State Medical University (Sechenov University), Moscow, Russia;
2Lomonosov Moscow State University, Moscow, Russia
*avt420034@gmail.com
Цель портала OmniDoctor – предоставление профессиональной информации врачам, провизорам и фармацевтам.