Medical Radiology and Radiation Safety. 2020. Vol. 65. No. 2. P. 82–86

A.D. Ryzhkov1, A.S. Krylov1, A.B. Bludov1, A.V. Kuzin2, S.M. Kaspshik1, M.B. Dolgushin1

Evaluation of the SPECT/CT Method in the Diagnosis of Alkaptonuric Ochronosis. Clinical Case

1 N.N. Blokhin National Medical Research Center of Oncology, Moscow, Russia
2 Russian Medical Academy of Continuous Professional Education, Moscow, Russia

E-mail: This email address is being protected from spambots. You need JavaScript enabled to view it.

Abstract

Purpose: Is to demonstrate functional and structural changes in the musculoskeletal system of the patient with alkaptonuric ochronosis using bone scan and hybrid imaging consisting of single-photon emission computed tomography (SPECT) and X-ray transmission computed tomography (CT) scan (SPECT/CT).

Material and methods: A clinical case report of patient with alkaptonuric ochronosis, examined with bone scan and SPECT/CT.

Results: In this article we show a clinical case with the picture of mineral metabolism disorder and severe degenerative changes of musculoskeletal system in patient with alkaptonuric ochronosis (a genetically determined disease), caused by metabolic disorders of tyrosine. We used hybrid SPECT/CT method for evaluation of this disease.

Conclusion: SPECT/CT method demonstrated structural and metabolic changes. This method allowed us to reveal the specific changes in cases of alkaptonuric ochronosis, but also it shows the possibility of using radionuclide methods in solving non-standard situations, while this method has not previously been applied.

Key words: alkaptonuria, ochronosis, bone scan, SPECT/CT

For citation: Ryzhkov AD, Krylov AS, Bludov AB, Kuzin AV, Kaspshik SM, Dolgushin MB. Evaluation of the SPECT/CT Method in the Diagnosis of Alkaptonuric Ochronosis. Clinical Case. Medical Radiology and Radiation Safety. 2020;65(2):82-6. (In Russ.).

DOI: 10.12737/1024-6177-2020-65-2-82-86

References

  1. Mannoni A, Selvi E, Lorenzini S, Giorgi M, Airó P, Cammelli D, Andreotti L, Marcolongo R, Porfirio B. Alkaptonuria, ochronosis, and ochronotic arthropathy. Semin Arthritis Rheum. 2004;33(4):239-48. DOI: 10.1053/s0049-0172(03)00080-5.
  2. Zatkova A. An update on molecular genetics of Alkaptonuria (AKU). J Inherit Metab Dis. 2011;34(6):1127-36. DOI: 10.1007/s10545-011-9363-z.
  3. Taylor AM, Boyde A, Wilson PJ, Jarvis JC, Davidson JS, Hunt JA, Ranganath LR, Gallagher JA. The role of calcified cartilage and subchondral bone in the initiation and progression of ochronotic arthropathy in alkaptonuria. Arthritis Rheum. 2011;63(12):3887-96. DOI: 10.1002/art.30606.
  4. Araki K, Sudo A, Hasegawa M, Uchida A. Devastating ochronotic arthropathy with successful bilateral hip and knee arthroplasties. J Clin Rheumatol. 2009;15(3):138-40. DOI: 10.1097/RHU.0b013e31819e6b41.
  5. Aquaron R. Alkaptonuria: a very rare metabolic disorder. Indian J Biochem Biophys. 2013;50(5):339-44.
  6. Gallagher JA, Dillon JP, Sireau N, Timmis O, Ranganath LR. An example of a “fundamental disease” — A rare disease with important lessons for more common disorders. Semin Cell Dev Biol. 2016;52:53-7. DOI: 10.1016/j.semcdb.2016.02.020.
  7. Perrone A, Impara L, Bruni A, Primicerio P, Marini M. Radiographic and MRI findings in ochronosis. Radiol Med. 2005;110(4):349-58.
  8. Doganavsargil B, Pehlivanoglu B, Bicer EK, Argin M, Bingul KB, Sezak M, et al. Black joint and synovia: histopathological evaluation of degenerative joint disease due to ochronosis. Pathol Res Pract. 2015;21(6);470-7. DOI: 10.1016/j.prp.2015.03.001.
  9. Ranganath LR, Cox TF Natural history of alkaptonuria revisited: analyses based on scoring systems. J Inherit Metab Dis. 2011;34 (6):1141-51. DOI: 10.1007/s10545-011-9374-9.
  10. Насонова ВА, Бунчук НВ. Руководство для врачей. Ревматические болезни. М.: Медицина. 1997. 520 с. [Nasonova VA, Bunchuk NV (Ed.) Rheumatic Diseases: A Guide for Physicians. M.: Medicine. 1997. 520 p. (in Russ.)].
  11. Клипелл ДХ, Стоун ДХ, Кроффорд ЛДж, Уайт ПХ. Рев­ма­тические заболевания. Руководство в 3 т. Т.2. Заболевания костей и суставов. Под ред. Насонова ЕЛ, Насонова ВА, Олюнина ЮА. (перевод). М.: ГЭОТАР-Медиа. 2012. 520 с. [Clipell DH, Stone DH, Crofford LJ, White PH. Ed by Nasonov EL, Nasonov VA, Olyunin YuA (trans). Rheumatic Diseases. Manual in 3 vol. Vol. 2. Bone and Joint Diseases. M.: GEOTAR-Media, 2012. 520 p. (in Russ.)].
  12. Башкова ИБ, Кичигин ВА, Безлюдная НВ и др. Охроноз: труд­ности постановки диагноза в практике врача-клини­цис­та. Трудный пациент. 2016;14(10-11):40-5. [Bashkova IB, Kichigin VA, Bezludnaya NV, Stepanov EG, Kovalev DV, Karpuhin AS, Tarasov AN. Ochronosis: difficulties in diagnosing in clinician’s practice. Difficult Patient. 2016;14(10-11):40-5. (in Russ.)].
  13. Чепой ВМ. Диагностика и лечение болезней суставов. М.: Медицина. 1990. 304 с. [Chepoy VM. Diagnosis and Treatment of Diseases of the Joints. M.: Medicine. 1990. 304 p. (in Russ.)].
  14. Григоровский ВВ, Бабко АН. Дифференциальная диагностика и лечение охронотической артропатии (описание клиничес­ко­го случая и современное состояние вопроса). Вестник травма­тологии и ортопедии им. Н.Н. Приорова. 2006;(4):42-8. [Grigorovskiy VV, Babko AN. Differential Diagnosis and Treatment of Ochronotic Arthropathy. (Case report and current state review). N.N. Priorov Bulletin of Traumatology and Ortopedics. 2006;(4):42-8. (in Russ.)].
  15. Ventura-Ríos L, Hernández-Díaz C, Gutiérrez-Pérez L, Bernal-González A, Pichardo-Bahena R, Cedeño-Garcidueñas AL, Pineda C. Ochronotic arthropathy as a paradigm of metabolically induced degenerative joint disease. A case-based review. Clin Rheumatol. 2016;35(5):1389-95. DOI: 10.1007/s10067-014-2557-7.
  16. Башкова ИБ, Кичигин ВА, Шаипов РШ и др. Охроноз как причина вторичного остеоартроза. РМЖ. 2017;25(7):474-80. [Bashkova IB, Kichigin VA, Shaipov RSh, Kryuchkov NA, Bezlyudnaya NV, Didichenko SN, Borisova LV. Ochronosis as a cause of secondary osteoarthrosis. RMJ. 2017;25(7):474-80. (in Russ.)].
  17. Золовкина АГ, Супрун ЕА, Джухаев ДА и др. Алкаптону­рический охроноз при эндопротезировании крупных суставов. Лабораторная служба. 2018;7(3-2):95. [Zolovkina AG, Suprun EA, Dzhukhaev DA, Lobanov MN, Abdaljan AM. Alkaptonuric ochronosis in endoprosthesis replacement of large joints. Laboratory Service. 2018;7(3-2):95. (in Russ.)].
  18. Zhao BH, Chen BC, Shao DC, Zhang Q Osteoarthritis? Ochronotic arthritis! A case study and review of the literature. Knee Surg Sports Traumatol Arthrosc. 2009;17(7):778-81. DOI: 10.1007/s00167-009-0778-0.
  19. Авдеева ОС, Беляева ЕА, Дубровина ЮС и др. Вторичный остеоартроз при охронозе в сочетании с остеопорозом. Вестник новых медицинских технологий. 2008;15 (3):90-1. [Avdeeva OS, Belyaeva EA, Dubrovina YuS, Nikishina OA, Savenkova NA, Yushina TA. Secondary osteoarthritis in case of ochronosis combined with osteoporosis. Journal of New Medical Technologies. 2008;15 (3):90-1. (in Russ.)].
  20. Чернов ВИ, Брагина ОД, Синилкин ИГ и др. Радио­нуклид­ная тераностика злокачественных образований. Вестник рентгенологии и радиологии. 2016;97(5):306-13. [Chernov VI, Bragina OD, Sinilkin IG, Medvedeva AA, Zel’chan RV. Radionuclide teranostic of malignancies. Journal of Radiology and  Nuclear  Medicine. 2016;97(5):306-13. (in Russ.)].
  21. Крылов АС, Рыжков АД, Щипахина ЯА и др. Роль ОФЭКТ/КТ и МРТ в дифференциальной диагностике поражения скелета (клинический случай). Медицинская радиология и радиационная безопасность. 2019;64(1):69-73. [Krylov AS, Ryzhkov AD, Shchipakhina YA, Nered AS, Bludov AB, Shiryaev SV. The role of SPECT/CT and MRI in the differential diagnosis of skeletal damage (case report). Medical Radiology and Radiation Safety. 2019;64(1):69-73. (in Russ.)]. DOI: 10.12737/article_5c55fb5ef00a68.52703915.
  22. Рыжков АД, Крылов АС, Блудов АБ, Ширяев СВ. Остео­сцин­тиграфия и ОФЭКТ/КТ в диагностике различных ва­риантов метастатического поражения костей. Меди­цинс­кая радиология и радиационная безопасность. 2018;63(2):41-6. [Ryzhkov AD, Krylov AS, Bludov AB, Shiryaev SV Osteoscintigraphy and SPECT/CT in the diagnosis of various variants of bone metastases. Medical Radiology and Radiation Safety. 2018;63(2):41-6. (in Russ.)]. DOI: 10.12737/article_5ac61fd62feba6.78437892.
  23. Чернов ВИ, Брагина ОД, Синилкин ИГ и др. Радио­имму­нотерапия: современное состояние проблемы. Вопросы онкологии. 2016;62(1):24-30. [Chernov VI, Bragina OD, Sinilkin IG, Medvedeva AA, Zelchan RV. Radioimmunotherapy: Current state of the problem. Problems of Oncology. 2016;62(1):24-30. (in Russ.)].
  24. Рыжков АД, Крылов АС, Ширяев СВ. Преимущество ком­би­нированной ОФЭКТ/КТ в диагностике метастазов в костях. Медицинская радиология и радиационная безо­пас­ность. 2017;62(5):33-9. [Ryzhkov AD, Krylov AS, Shiryaev SV, Shchipakhina YaA, Kochergina NV. The advantage of a combined SPECT/CT in the diagnosis of bone metastases. Medical Radiology and Radiation Safety. 2017;62(5):33-9. (in Russ.)]. DOI: 10.12737/article_59f2fc0812bc46.45377149.
  25. Chernov VI, Triss SV, Skuridin VS, Lishmanov YB Thallium-199: A new radiopharmaceutical for myocardial perfusion imaging. Int J Card Imaging 1996;12(2):119-26.
  26. Lishmanov Y, Minin S, Efimova I, Chernov V, Saushkina Y, Lebedev D, Popov S. The possible role of nuclear imaging in assessment of the cardiac resynchronization therapy effectiveness in patients with moderate heart failure. Ann Nucl Med. 2013;27(4):378-85.

PDF (RUS) Full-text article (in Russian)

ORCID authors’

Ryzhkov A.D., http://orcid.org/0000-0002-9571-801X
Krylov A.S., http://orcid.org/0000-0002-8476-7879
Bludov A.B., https://orcid.org/0000-0002-0970-6144
Kuzin A.V., http://orcid.org/0000-0002-1262-932Х
Kaspshik S.M., http://orcid.org/0000-0002-1384-9551
Dolguyshin M.B., http://orcid.org/0000-0003-3930-5998

Conflict of interest. The authors declare no conflict of interest.

Informed consent. All patients signed an informed consent to participate in the study.

Financing. The study had no sponsorship.

Contribution. Article was prepared with equal participation of the authors.

Article received: 21.01.2020

Accepted for publication: 12.03.2020.