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Алкаптонурия у пациента с вертебрально-базилярной недостаточностью: описание случая и обзор литературы
Сердюк А.В., Ковражкина Е.А., Кулькова А.О. Алкаптонурия у пациента с вертебрально-базилярной недостаточностью: описание случая и обзор литературы. Consilium Medicum. 2017; 19 (2): 51–55.
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Serdiuk A.V., Kovrazhkina E.A., Kulkova A.O. Alcaptonuria patient with vertebrobasilar insufficiency: case report and literature review. Consilium Medicum. 2017; 19 (2): 51–55.
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Аннотация
Алкаптонурия – редкое наследственное заболевание, проявляющееся нарушением обмена гомогентизиновой кислоты, отложением ее метаболитов в тканях и поражением разных органов и систем. У этого заболевания имеются облигатные признаки, позволяющие безошибочно поставить диагноз, однако часто диагностика алкаптонурии оказывается поздней. Приводим собственное наблюдение 75-летнего пациента.
Ключевые слова: алкаптонурия, охроноз, наблюдение из практики, гомогентизиновая кислота.
Ключевые слова: алкаптонурия, охроноз, наблюдение из практики, гомогентизиновая кислота.
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Alcaptonuria is a rare hereditary disease, which manifests itself in violation homogentisic acid metabolism, deposition of its metabolites in tissues and lesions of various organs and systems. In this disease it is obligate symptoms, allowing error-free diagnosis, but often the diagnosis is late. Here is your own observation of 75-year-old patient.
Key words: alcaptonuria, ochronosis, observation of practice, alcapton.
Key words: alcaptonuria, ochronosis, observation of practice, alcapton.
Полный текст
Список литературы
1. Кузин А.В. Алкаптонурия в практике интерниста. Consilium Medicum. 2007; 9 (2): 5–6. / Kuzin A.V. Alkaptonuriia v praktike internista. Consilium Medicum. 2007; 9 (2): 5–6. [in Russian]
2. Mistry JB, Bukhari M, Taylor AM. Alkaptonuria. Rare Dis 2013; 1: e27475. DOI: 10.4161/rdis.27475
3. Srsen S, Müller CR, Fregin A, Srsnova K. Alkaptonuria in Slovakia: thirty-two years of research on phenotype and genotype. Mol Genet Metab 2002; 75 (4): 353–9.
4. Pagon RA, Adam MP, Ardinger HH et al. Gene Reviews [Internet]. Seattle (WA): University of Washington; p. 1993–2016.
5. Gil JA, Wawrzynski J, Waryasz GR. Orthopedic manifestations of ochronosis: pathophysiology, presentation, diagnosis, and management. Am J Med 2016; 129 (5): 536.e1–6. DOI: 10.1016/j.amjmed.2016.01.010
6. Lok ZS, Goldstein J, Smith JA. Alkaptonuria-associated aortic stenosis. J Card Surg 2013; 28 (4): 417–20. DOI: 10.1111/jocs.12129
7. Wolff F, Biaou I, Koopmansch C et al. Renal and prostate stones composition in alkaptonuria: a case report. Clin Nephrol 2015; 84 (6): 339–42. DOI: 10.5414/CN108608
8. Phornphutkul C, Introne WJ, Perry MB et al. Natural history of alkaptonuria. N Engl J Med 2002; 347: 2111–21.
9. Hannoush H, Introne WJ, Chen MY et al. Aortic stenosis and vascular calcifications in alkaptonuria. Mol Genet Metab 2012; 105: 198–202.
10. Arnoux JB, Le Quan Sang KH, Brassier A et al. Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria. J Inherit Metab Dis 2015; 38 (5): 791–6. DOI: 10.1007/s10545-015-9844-6
11. Mistry JB, Jackson DJ, Bukhari M, Taylor AM. Osteoarticular cells tolerate short-term exposure to nitisinone-implications in alkaptonuria. Clin Rheumatol 2016; 35 (2): 513–6. DOI: 10.1007/s10067-015-2983-1
12. Preston AJ, Keenan CM, Sutherland H et al. Ochronoticosteoarthropathy in a mouse model of alkaptonuria, and its inhibition by nitisinone. Ann Rheum Dis 2014; 73 (1): 284–9. DOI: 10.1136/annrheumdis-2012-202878
13. Keenan CM, Preston AJ, Sutherland H et al. Nitisinone arrests but does not reverse ochronosis in alkaptonuric mice. JIMD Rep 2015; 24: 45–50. DOI: 10.1007/8904_2015_437
14. Gertsman I, Barshop BA, Panyard-Davis J et al. Metabolic effects of increasing doses of nitisinone in the treatment of alkaptonuria. JIMD Rep 2015; 24: 13–20. DOI: 10.1007/8904_2014_403
15. Ranganath LR, Milan AM, Hughes AT et al. Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid excretion in patients with alkaptonuria after 4 weeks of treatment. Ann Rheum Dis 2016; 75 (2): 362–7. DOI: 10.1136/annrheumdis-2014-206033
16. Zatkova A, Sedlackova T, Radvansky J et al. Identification of 11 novel homogentisate 1,2-dioxygenase variants in alkaptonuria patients and establishment of a novel LOVD-based HGD mutation database. JIMD Rep 2012; 4: 55–65. DOI: 10.1007/8904_2011_68
17. Zouheir Habbal M, Bou-Assi T, Zhu J et al. First report of a deletion encompassing an entire exon in the homogentisate 1,2-dioxygenase gene causing alkaptonuria. PLoS One 2014; 9 (9): e106948. DOI: 10.1371/journal.pone.0106948
18. Li H, Zhang K, Xu Q et al. Two novel mutations in the homogentisate-1,2-dioxygenase gene identified in Chinese Han child with alkaptonuria. J Pediatr Endocrinol Metab 2015; 28 (3–4): 453–6. DOI: 10.1515/jpem-2014-0122
19. Kalevski SK, Haritonov DG, Peev NA. Alcaptonuria with lumbar disc prolapse: case study and review of the literature. Spine J 2007; 7 (4): 495–8.
20. Li N, Tian W, Yuan Q, He D. Cervical spondylotic myelopathy due to the ochronoticarthropathy of the cervical spine. J Korean Neurosurg Soc 2016; 59 (1): 65–8. DOI: 10.3340/jkns.2016.59.1.65
21. Akeda K, Kasai Y, Kawakita E et al. Thoracic myelopathy with alkaptonuria. Spine (Phila Pa 1976) 2008; 33 (2): E62. DOI: 10.1097/BRS.0b013e31816046ea
22. Raaijmaakers M, Steenbrugge F, Dierickx C. Ochronosis, arthroscopy of a black knee: a case report and review of the literature. Knee Surg Sports Traumatol Arthrosc 2008;16 (2): 182–4.
23. Близнюков В.В., Коваленко А.Н., Румакин В.П. Вторичный деформирующий гонартроз на фоне охроноза (случай из клинической практики). Травматология и ортопедия России. 2013; 2: 111–5. / Blizniukov V.V., Kovalenko A.N., Rumakin V.P. Vtorichnyi deformiruiushchii gonartroz na fone okhronoza (sluchai iz klinicheskoi praktiki). Travmatologiia i ortopediia Rossii. 2013; 2: 111–5. [in Russian]
24. Шаповалов В.М., Исмаилов Х.Г., Маздыков А.Ф. и др. Опыт тотального эндопротезирования при вторичном артрозе на фоне алкаптонурического охроноза. Профилактическая и клиническая медицина. 2011; 3: 230–3. / Shapovalov V.M., Ismailov Kh.G., Mazdykov A.F. i dr. Opyt total'nogo endoprotezirovaniia pri vtorichnom artroze na fone alkaptonuricheskogo okhronoza. Profilakticheskaia i klinicheskaia meditsina. 2011; 3: 230–3. [in Russian]
25. Барсуков А.В., Багаева З.В., Свеклина Т.С. и др. Аортальный стеноз алкаптонурического генеза. Кардиология. 2010; 5: 92–5. / Barsukov A.V., Bagaeva Z.V., Sveklina T.S. i dr. Aortal'nyi stenoz alkaptonuricheskogo geneza. Kardiologiia. 2010; 5: 92–5. [in Russian]
26. Steger CM. Aortic valve ochronosis: a rare manifestation of alkaptonuria. BMJ Case Rep 2011; 2011: bcr0420114119. DOI: 10.1136/bcr.04.2011.4119
2. Mistry JB, Bukhari M, Taylor AM. Alkaptonuria. Rare Dis 2013; 1: e27475. DOI: 10.4161/rdis.27475
3. Srsen S, Müller CR, Fregin A, Srsnova K. Alkaptonuria in Slovakia: thirty-two years of research on phenotype and genotype. Mol Genet Metab 2002; 75 (4): 353–9.
4. Pagon RA, Adam MP, Ardinger HH et al. Gene Reviews [Internet]. Seattle (WA): University of Washington; p. 1993–2016.
5. Gil JA, Wawrzynski J, Waryasz GR. Orthopedic manifestations of ochronosis: pathophysiology, presentation, diagnosis, and management. Am J Med 2016; 129 (5): 536.e1–6. DOI: 10.1016/j.amjmed.2016.01.010
6. Lok ZS, Goldstein J, Smith JA. Alkaptonuria-associated aortic stenosis. J Card Surg 2013; 28 (4): 417–20. DOI: 10.1111/jocs.12129
7. Wolff F, Biaou I, Koopmansch C et al. Renal and prostate stones composition in alkaptonuria: a case report. Clin Nephrol 2015; 84 (6): 339–42. DOI: 10.5414/CN108608
8. Phornphutkul C, Introne WJ, Perry MB et al. Natural history of alkaptonuria. N Engl J Med 2002; 347: 2111–21.
9. Hannoush H, Introne WJ, Chen MY et al. Aortic stenosis and vascular calcifications in alkaptonuria. Mol Genet Metab 2012; 105: 198–202.
10. Arnoux JB, Le Quan Sang KH, Brassier A et al. Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria. J Inherit Metab Dis 2015; 38 (5): 791–6. DOI: 10.1007/s10545-015-9844-6
11. Mistry JB, Jackson DJ, Bukhari M, Taylor AM. Osteoarticular cells tolerate short-term exposure to nitisinone-implications in alkaptonuria. Clin Rheumatol 2016; 35 (2): 513–6. DOI: 10.1007/s10067-015-2983-1
12. Preston AJ, Keenan CM, Sutherland H et al. Ochronoticosteoarthropathy in a mouse model of alkaptonuria, and its inhibition by nitisinone. Ann Rheum Dis 2014; 73 (1): 284–9. DOI: 10.1136/annrheumdis-2012-202878
13. Keenan CM, Preston AJ, Sutherland H et al. Nitisinone arrests but does not reverse ochronosis in alkaptonuric mice. JIMD Rep 2015; 24: 45–50. DOI: 10.1007/8904_2015_437
14. Gertsman I, Barshop BA, Panyard-Davis J et al. Metabolic effects of increasing doses of nitisinone in the treatment of alkaptonuria. JIMD Rep 2015; 24: 13–20. DOI: 10.1007/8904_2014_403
15. Ranganath LR, Milan AM, Hughes AT et al. Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid excretion in patients with alkaptonuria after 4 weeks of treatment. Ann Rheum Dis 2016; 75 (2): 362–7. DOI: 10.1136/annrheumdis-2014-206033
16. Zatkova A, Sedlackova T, Radvansky J et al. Identification of 11 novel homogentisate 1,2-dioxygenase variants in alkaptonuria patients and establishment of a novel LOVD-based HGD mutation database. JIMD Rep 2012; 4: 55–65. DOI: 10.1007/8904_2011_68
17. Zouheir Habbal M, Bou-Assi T, Zhu J et al. First report of a deletion encompassing an entire exon in the homogentisate 1,2-dioxygenase gene causing alkaptonuria. PLoS One 2014; 9 (9): e106948. DOI: 10.1371/journal.pone.0106948
18. Li H, Zhang K, Xu Q et al. Two novel mutations in the homogentisate-1,2-dioxygenase gene identified in Chinese Han child with alkaptonuria. J Pediatr Endocrinol Metab 2015; 28 (3–4): 453–6. DOI: 10.1515/jpem-2014-0122
19. Kalevski SK, Haritonov DG, Peev NA. Alcaptonuria with lumbar disc prolapse: case study and review of the literature. Spine J 2007; 7 (4): 495–8.
20. Li N, Tian W, Yuan Q, He D. Cervical spondylotic myelopathy due to the ochronoticarthropathy of the cervical spine. J Korean Neurosurg Soc 2016; 59 (1): 65–8. DOI: 10.3340/jkns.2016.59.1.65
21. Akeda K, Kasai Y, Kawakita E et al. Thoracic myelopathy with alkaptonuria. Spine (Phila Pa 1976) 2008; 33 (2): E62. DOI: 10.1097/BRS.0b013e31816046ea
22. Raaijmaakers M, Steenbrugge F, Dierickx C. Ochronosis, arthroscopy of a black knee: a case report and review of the literature. Knee Surg Sports Traumatol Arthrosc 2008;16 (2): 182–4.
23. Близнюков В.В., Коваленко А.Н., Румакин В.П. Вторичный деформирующий гонартроз на фоне охроноза (случай из клинической практики). Травматология и ортопедия России. 2013; 2: 111–5. / Blizniukov V.V., Kovalenko A.N., Rumakin V.P. Vtorichnyi deformiruiushchii gonartroz na fone okhronoza (sluchai iz klinicheskoi praktiki). Travmatologiia i ortopediia Rossii. 2013; 2: 111–5. [in Russian]
24. Шаповалов В.М., Исмаилов Х.Г., Маздыков А.Ф. и др. Опыт тотального эндопротезирования при вторичном артрозе на фоне алкаптонурического охроноза. Профилактическая и клиническая медицина. 2011; 3: 230–3. / Shapovalov V.M., Ismailov Kh.G., Mazdykov A.F. i dr. Opyt total'nogo endoprotezirovaniia pri vtorichnom artroze na fone alkaptonuricheskogo okhronoza. Profilakticheskaia i klinicheskaia meditsina. 2011; 3: 230–3. [in Russian]
25. Барсуков А.В., Багаева З.В., Свеклина Т.С. и др. Аортальный стеноз алкаптонурического генеза. Кардиология. 2010; 5: 92–5. / Barsukov A.V., Bagaeva Z.V., Sveklina T.S. i dr. Aortal'nyi stenoz alkaptonuricheskogo geneza. Kardiologiia. 2010; 5: 92–5. [in Russian]
26. Steger CM. Aortic valve ochronosis: a rare manifestation of alkaptonuria. BMJ Case Rep 2011; 2011: bcr0420114119. DOI: 10.1136/bcr.04.2011.4119
________________________________________________
1. Kuzin A.V. Alkaptonuriia v praktike internista. Consilium Medicum. 2007; 9 (2): 5–6. [in Russian]
2. Mistry JB, Bukhari M, Taylor AM. Alkaptonuria. Rare Dis 2013; 1: e27475. DOI: 10.4161/rdis.27475
3. Srsen S, Müller CR, Fregin A, Srsnova K. Alkaptonuria in Slovakia: thirty-two years of research on phenotype and genotype. Mol Genet Metab 2002; 75 (4): 353–9.
4. Pagon RA, Adam MP, Ardinger HH et al. Gene Reviews [Internet]. Seattle (WA): University of Washington; p. 1993–2016.
5. Gil JA, Wawrzynski J, Waryasz GR. Orthopedic manifestations of ochronosis: pathophysiology, presentation, diagnosis, and management. Am J Med 2016; 129 (5): 536.e1–6. DOI: 10.1016/j.amjmed.2016.01.010
6. Lok ZS, Goldstein J, Smith JA. Alkaptonuria-associated aortic stenosis. J Card Surg 2013; 28 (4): 417–20. DOI: 10.1111/jocs.12129
7. Wolff F, Biaou I, Koopmansch C et al. Renal and prostate stones composition in alkaptonuria: a case report. Clin Nephrol 2015; 84 (6): 339–42. DOI: 10.5414/CN108608
8. Phornphutkul C, Introne WJ, Perry MB et al. Natural history of alkaptonuria. N Engl J Med 2002; 347: 2111–21.
9. Hannoush H, Introne WJ, Chen MY et al. Aortic stenosis and vascular calcifications in alkaptonuria. Mol Genet Metab 2012; 105: 198–202.
10. Arnoux JB, Le Quan Sang KH, Brassier A et al. Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria. J Inherit Metab Dis 2015; 38 (5): 791–6. DOI: 10.1007/s10545-015-9844-6
11. Mistry JB, Jackson DJ, Bukhari M, Taylor AM. Osteoarticular cells tolerate short-term exposure to nitisinone-implications in alkaptonuria. Clin Rheumatol 2016; 35 (2): 513–6. DOI: 10.1007/s10067-015-2983-1
12. Preston AJ, Keenan CM, Sutherland H et al. Ochronoticosteoarthropathy in a mouse model of alkaptonuria, and its inhibition by nitisinone. Ann Rheum Dis 2014; 73 (1): 284–9. DOI: 10.1136/annrheumdis-2012-202878
13. Keenan CM, Preston AJ, Sutherland H et al. Nitisinone arrests but does not reverse ochronosis in alkaptonuric mice. JIMD Rep 2015; 24: 45–50. DOI: 10.1007/8904_2015_437
14. Gertsman I, Barshop BA, Panyard-Davis J et al. Metabolic effects of increasing doses of nitisinone in the treatment of alkaptonuria. JIMD Rep 2015; 24: 13–20. DOI: 10.1007/8904_2014_403
15. Ranganath LR, Milan AM, Hughes AT et al. Suitability Of Nitisinone In Alkaptonuria 1 (SONIA 1): an international, multicentre, randomised, open-label, no-treatment controlled, parallel-group, dose-response study to investigate the effect of once daily nitisinone on 24-h urinary homogentisic acid excretion in patients with alkaptonuria after 4 weeks of treatment. Ann Rheum Dis 2016; 75 (2): 362–7. DOI: 10.1136/annrheumdis-2014-206033
16. Zatkova A, Sedlackova T, Radvansky J et al. Identification of 11 novel homogentisate 1,2-dioxygenase variants in alkaptonuria patients and establishment of a novel LOVD-based HGD mutation database. JIMD Rep 2012; 4: 55–65. DOI: 10.1007/8904_2011_68
17. Zouheir Habbal M, Bou-Assi T, Zhu J et al. First report of a deletion encompassing an entire exon in the homogentisate 1,2-dioxygenase gene causing alkaptonuria. PLoS One 2014; 9 (9): e106948. DOI: 10.1371/journal.pone.0106948
18. Li H, Zhang K, Xu Q et al. Two novel mutations in the homogentisate-1,2-dioxygenase gene identified in Chinese Han child with alkaptonuria. J Pediatr Endocrinol Metab 2015; 28 (3–4): 453–6. DOI: 10.1515/jpem-2014-0122
19. Kalevski SK, Haritonov DG, Peev NA. Alcaptonuria with lumbar disc prolapse: case study and review of the literature. Spine J 2007; 7 (4): 495–8.
20. Li N, Tian W, Yuan Q, He D. Cervical spondylotic myelopathy due to the ochronoticarthropathy of the cervical spine. J Korean Neurosurg Soc 2016; 59 (1): 65–8. DOI: 10.3340/jkns.2016.59.1.65
21. Akeda K, Kasai Y, Kawakita E et al. Thoracic myelopathy with alkaptonuria. Spine (Phila Pa 1976) 2008; 33 (2): E62. DOI: 10.1097/BRS.0b013e31816046ea
22. Raaijmaakers M, Steenbrugge F, Dierickx C. Ochronosis, arthroscopy of a black knee: a case report and review of the literature. Knee Surg Sports Traumatol Arthrosc 2008;16 (2): 182–4.
23. Blizniukov V.V., Kovalenko A.N., Rumakin V.P. Vtorichnyi deformiruiushchii gonartroz na fone okhronoza (sluchai iz klinicheskoi praktiki). Travmatologiia i ortopediia Rossii. 2013; 2: 111–5. [in Russian]
24. Shapovalov V.M., Ismailov Kh.G., Mazdykov A.F. i dr. Opyt total'nogo endoprotezirovaniia pri vtorichnom artroze na fone alkaptonuricheskogo okhronoza. Profilakticheskaia i klinicheskaia meditsina. 2011; 3: 230–3. [in Russian]
25. Barsukov A.V., Bagaeva Z.V., Sveklina T.S. i dr. Aortal'nyi stenoz alkaptonuricheskogo geneza. Kardiologiia. 2010; 5: 92–5. [in Russian]
26. Steger CM. Aortic valve ochronosis: a rare manifestation of alkaptonuria. BMJ Case Rep 2011; 2011: bcr0420114119. DOI: 10.1136/bcr.04.2011.4119
Авторы
А.В.Сердюк*1, Е.А.Ковражкина1, А.О.Кулькова2
1 ФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И.Пирогова» Минздрава России. 117997, Россия, Москва, ул. Островитянова, д. 1;
2 ГБУЗ «Городская клиническая больница №31» Департамента здравоохранения г. Москвы. 119415, Россия, Москва, ул. Лобачевского, д. 42
*aserdyuk@gmail.com
1 ФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И.Пирогова» Минздрава России. 117997, Россия, Москва, ул. Островитянова, д. 1;
2 ГБУЗ «Городская клиническая больница №31» Департамента здравоохранения г. Москвы. 119415, Россия, Москва, ул. Лобачевского, д. 42
*aserdyuk@gmail.com
________________________________________________
A.V.Serdiuk*1, E.A.Kovrazhkina1, A.O.Kulkova2
1 N.I.Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation. 117997, Russian Federation, Moscow, ul. Ostrovitianova, d. 1;
2 City Clinical Hospital №31 of the Department of Health of Moscow. 119415, Russian Federation, Moscow, ul. Lobachevskogo, d. 42
*aserdyuk@gmail.com
1 N.I.Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation. 117997, Russian Federation, Moscow, ul. Ostrovitianova, d. 1;
2 City Clinical Hospital №31 of the Department of Health of Moscow. 119415, Russian Federation, Moscow, ul. Lobachevskogo, d. 42
*aserdyuk@gmail.com
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