Alkaptonuria — morphological lesions of articular tissues. Literature review and case report

Radenska-Lopovok S.G.; Timakova A.A.; Kuzin A.V.; Murylev V.Yu.

doi:https://doi.org/10.17116/patol20208204141

Radenska-Lopovok S.G.

I.M. Sechenov First Moscow State Medical University

ORCID: 0000-0002-4669-260X

Timakova A.A.

I.M. Sechenov First Moscow State Medical University (Sechenov University)

Kuzin A.V.

Russian Medical Academy of Continuous Professional Education;
A.V. Nassonova Research Institute of Rheumatology

Murylev V.Yu.

I.M. Sechenov First Moscow State Medical University (Sechenov University);
S.P. Botkin City Clinical Hospital

Alkaptonuria — morphological lesions of articular tissues. Literature review and case report

Authors:

Radenska-Lopovok S.G., Timakova A.A., Kuzin A.V., Murylev V.Yu.

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Journal: Russian Journal of Archive of Pathology. 2020;82(4): 41‑46

DOI: 10.17116/patol20208204141

Read: 11670 times

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To cite this article:

Radenska-Lopovok SG, Timakova AA, Kuzin AV, Murylev VYu. Alkaptonuria — morphological lesions of articular tissues. Literature review and case report. Russian Journal of Archive of Pathology. 2020;82(4):41‑46. (In Russ.)
https://doi.org/10.17116/patol20208204141

Подписка 2026 Архив патологии (Russian Journal of Archive of Pathology)

Использование инфографики авторами научных работ

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Abstract:

INTRODUCTION

Alkaptonuria (ochronosis) is a rare hereditary disease of metabolic disorders of tyrosine with an autosomal-recessive type of inheritance. Men get sick more often. The human homogenetic acid oxidase gene (HGD) is located on the long arm 3 of the human chromosome (3q 21-23). It affects primarily the connective tissue — skin, joints, spine, aortic valves.

MATERIAL AND METHODS

Morphological changes in the tissues of the knee and hip joints of 11 patients with a reliable diagnosis of alkaptonuria are described. The diagnosis was made based on clinical signs, genetic research and confirmed by morphological data.

RESULTS

There were revealed deposits of alkapton in all tissues of the joints, hypertrophy, and hyperplasia of the synovial membrane, cartilage degenerative changes, architectonics lesions of the bone and sclerosis of the inter-beam spaces of the bones. There was increased petrification of cartilage and bone.

CONCLUSION

The deposition of pigment in the connective tissue is common and destruction of the joint components leads to disability and surgical joint replacement.

Keywords:

ochronosis

alkaptonuria

morphology of ochronosis

pathogenesis of ochronosis

diagnostics of alkaptonuria

arthritis

arthropathy

Authors:

Radenska-Lopovok S.G.

I.M. Sechenov First Moscow State Medical University

ORCID: 0000-0002-4669-260X

Timakova A.A.

I.M. Sechenov First Moscow State Medical University (Sechenov University)

Kuzin A.V.

Russian Medical Academy of Continuous Professional Education;
A.V. Nassonova Research Institute of Rheumatology

Murylev V.Yu.

I.M. Sechenov First Moscow State Medical University (Sechenov University);
S.P. Botkin City Clinical Hospital

Received:

19.02.2020

Accepted:

20.04.2020

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References:

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