Clinical case of ochronosis with damage to the valvular apparatus of the heart and the musculoskeletal system in an 80-year-old female patient



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Abstract

Ochronosis (alkaptonuria) is a rare pathology caused by a congenital disorder of the amino acid tyrosine metabolism, the process of biochemical transformation of which stops at the stage of formation of one of the products of its metabolism – homogentisic acid. Alkaptonuria occurs due to a mutation of the gene encoding the synthesis of homogentisic acid oxidase. Clinical manifestations of the disease: homogentisic aciduria (manifests itself in infancy), gradual development of ochronosis after 20-30 years and degenerative ochronic arthropathies, usually in the fourth decade of life. There are also lesions of the cardiovascular system and urinary tract. In the treatment of ochronosis, a multifaceted approach is necessary, covering both drug and non-drug methods of influence. Our article presents a clinical case of ochronosis with damage to the valvular apparatus of the heart and the musculoskeletal system in an 80-year-old woman. Modern imaging and laboratory methods have played an important role in the accurate diagnosis of the disease. It is important to improve awareness of ochronosis among doctors of different profiles for early detection of the pathology. Timely detection of ochronosis allows for early treatment, which can reduce the number of complications and improve the quality of life of patients.

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Conflict of interest. The authors declare the absence of obvious and potential conflicts of interest related to the publication of this article.

Contribution of the authors: A.M. Alieva, I.V. Kovtyukh, I.E. Baykova – literature review, collection and analysis of literary sources, writing and editing the article; E.A. Khachirova – treatment of the patient, writing the text; A.A. Melnikov, I.G. Nikitin – scientific consulting, editing of the article; A.B. Sultangalieva – collection and analysis of literary sources. All authors confirm that their authorship meets the international ICMJE criteria (all authors have made a significant contribution to the development of the concept, research and preparation of the article, read and approved the final version before publication).

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About the authors

Amina M. Alieva

Russian National Research Medical University named after N.I. Pirogov

Author for correspondence.
Email: amisha_alieva@mail.ru
ORCID iD: 0000-0001-5416-8579
SPIN-code: 2749-6427

MD, Cand. Sci. (Medicine), assistant professor

Russian Federation, 1 Ostrovityanova str., 117997, Moscow

Irina V. Kovtyukh

Russian National Research Medical University named after N.I. Pirogov

Email: ivkovtuh@mail.ru
ORCID iD: 0000-0002-9176-1889
SPIN-code: 4746-3716

assistant

Russian Federation, 1 Ostrovityanova str., 117997, Moscow

Irina E. Baykova

Russian National Research Medical University named after N.I. Pirogov

Email: 1498553@mail.ru
ORCID iD: 0000-0003-0886-6290
SPIN-code: 3054-8884

MD, Cand. Sci. (Med.), assistant professor

Russian Federation, 1 Ostrovityanova str., 117997, Moscow

Elvira A. Khachirova

Russian National Research Medical University named after N.I. Pirogov

Email: elchik09@mail.ru
ORCID iD: 0000-0003-2523-8907

MD, Cand. Sci. (Med.), assistant professor

Russian Federation, 1 Ostrovityanova str., 117997, Moscow

Albina B. Sultangalieva

Russian National Research Medical University named after N.I. Pirogov

Email: albina_sult_2002@mail.ru
ORCID iD: 0009-0008-4194-8486
SPIN-code: 6613-2479

sixth-year medical student

Russian Federation, 1 Ostrovityanova str., 117997, Moscow

Alexander A. Melnikov

Russian Research Center of Surgery named after academician B.V.Petrovsky

Email: alexradiology@rambler.ru
ORCID iD: 0009-0008-7409-0957
SPIN-code: 2129-3238

MD, Cand. Sci. (Medicine)

Russian Federation, 1A Litovsky Boulevard, 117593, Moscow

Igor G. Nikitin

Russian National Research Medical University named after N.I. Pirogov

Email: igor.nikitin.64@mail.ru
ORCID iD: 0000-0003-1699-0881
SPIN-code: 3595-1990

MD, Dr. Sci. (Medicine), Professor

Russian Federation, 1 Ostrovityanova str., 117997, Moscow

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