Alcaptonuria patient with vertebrobasilar insufficiency: case report and literature review
- Authors: Serdiuk A.V1, Kovrazhkina E.A1, Kulkova A.O2
-
Affiliations:
- N.I.Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation
- City Clinical Hospital №31 of the Department of Health of Moscow
- Issue: Vol 19, No 2 (2017)
- Pages: 51-55
- Section: Articles
- URL: https://journals.rcsi.science/2075-1753/article/view/94729
- ID: 94729
Cite item
Full Text
Abstract
Keywords
Full Text
##article.viewOnOriginalSite##About the authors
A. V Serdiuk
N.I.Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation
Email: aserdyuk@gmail.com
канд. мед. наук, ассистент каф. фундаментальной и клинической неврологии, нейрохирургии ФГБОУ ВО «РНИМУ им. Н.И.Пирогова» 117997, Russian Federation, Moscow, ul. Ostrovitianova, d. 1
E. A Kovrazhkina
N.I.Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federationканд. мед. наук, ст. науч. сотр. НИИ инсульта ФГБОУ ВО «РНИМУ им. Н.И.Пирогова» 117997, Russian Federation, Moscow, ul. Ostrovitianova, d. 1
A. O Kulkova
City Clinical Hospital №31 of the Department of Health of Moscowврач-невролог отд-ния оказания помощи больным с инсультом ГБУЗ ГКБ №31 119415, Russian Federation, Moscow, ul. Lobachevskogo, d. 42
References
- Кузин А.В. Алкаптонурия в практике интерниста // Consilium Medicum. 2007; 9 (2): 5-6.
- Mistry J.B, Bukhari M, Taylor A.M. Alkaptonuria. Rare Dis 2013; 1: e27475. doi: 10.4161/rdis.27475
- Srsen S, Müller C.R, Fregin A, Srsnova K. Alkaptonuria in Slovakia: thirty - two years of research on phenotype and genotype. Mol Genet Metab 2002; 75 (4): 353-9.
- Pagon R.A, Adam M.P, Ardinger H.H et al. Gene Reviews [Internet]. Seattle (WA): University of Washington; p. 1993-2016.
- Gil J.A, Wawrzynski J, Waryasz G.R. 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
- Lok Z.S, Goldstein J, Smith J.A. Alkaptonuria - associated aortic stenosis. J Card Surg 2013; 28 (4): 417-20. doi: 10.1111/jocs.12129
- 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
- Phornphutkul C, Introne W.J, Perry M.B et al. Natural history of alkaptonuria. N Engl J Med 2002; 347: 2111-21.
- Hannoush H, Introne W.J, Chen M.Y et al. Aortic stenosis and vascular calcifications in alkaptonuria. Mol Genet Metab 2012; 105: 198-202.
- Arnoux J.B, Le Quan Sang K.H, 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
- Mistry J.B, Jackson D.J, Bukhari M, Taylor A.M. 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
- Preston A.J, Keenan C.M, 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
- Keenan C.M, Preston A.J, 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
- Gertsman I, Barshop B.A, 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
- Ranganath L.R, Milan A.M, Hughes A.T 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
- 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
- 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
- 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
- Kalevski S.K, Haritonov D.G, Peev N.A. Alcaptonuria with lumbar disc prolapse: case study and review of the literature. Spine J 2007; 7 (4): 495-8.
- 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
- 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
- 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.
- 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.
- 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.
- Барсуков А.В., Багаева З.В., Свеклина Т.С. и др. Аортальный стеноз алкаптонурического генеза. Кардиология. 2010; 5: 92-5.
- Steger C.M. Aortic valve ochronosis: a rare manifestation of alkaptonuria. BMJ Case Rep 2011; 2011: bcr0420114119. doi: 10.1136/bcr.04.2011.4119