Mevalonate kinase deficiency syndrome: Single center experience-Reference-Cited by-同舟云学术

Mevalonate kinase deficiency syndrome: Single center experience

Published:2021-07-15 Issue:3 Volume:59 Page:326-334
ISSN:1995-4492
Container-title:Rheumatology Science and Practice
language:
Short-container-title:Naučno-praktičeskaâ revmatologiâ

Author:

Kozlova A. L.¹^ORCID,Bludova V. O.¹^ORCID,Burlakov V. I.¹^ORCID,Raykina E. V.¹^ORCID,Varlamova T. V.¹^ORCID,Kurnikova М. А.¹^ORCID,Remizov А. N.¹^ORCID,Tereshchenko G. V.¹^ORCID,Moiseeva А. А.¹^ORCID,Dibirova S. А.¹^ORCID,Khoreva А. L.¹^ORCID,Roppelt А. А.¹^ORCID,Rodina Yu. А.¹^ORCID,Kuzmenko N. B.¹^ORCID,Mukhina А. А.¹^ORCID,Каlashnikova Е. I.²^ORCID,Igisheva L. N.³^ORCID,Martynova N. V.⁴^ORCID,Zhogova О. V.⁵^ORCID,Zimin S. B.⁶^ORCID,Barabanova О. V.⁶^ORCID,Kotova Yu. V.⁷^ORCID,Novichkova G. А.¹^ORCID,Shcherbina А. Yu.¹^ORCID

Affiliation:

1. Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology

2. Perm Region Children’s Clinical Hospital

3. Kemerovo State Medical University

4. Tambov Regional Children’s Hospital

5. Krim Republican Children’s Clinical Hospital

6. Children’s City Clinical Hospital N 9 named after G.N. Speransky

7. Children’s Clinical Multidisciplinary Hospital of the Moscow Region

Abstract

The aim of this study was to analyze the clinical, laboratory and molecular genetic data of 26 patients (15 boys, 11 girls) diagnosed with mevalonate kinase deficiency syndrome (MKD).Subjects and methods. The age of MKD manifestation ranged from 0 to 30.0 months (M – 1.5 months). Clinical manifestations and their severity were extremely diverse: from symptoms resembling Marshall’s syndrome to severe systemic manifestations with respiratory failure, hepatosplenomegaly and pancytopenia.Results/Conclusion. All patients had homozygous/compound-heterozygous mutations in the MVK gene, including 10 newly described variants. In all 20 patients, who have been treated with IL-1 inhibitors long enough to assess the effect of the treatment, drastic improvement of the condition was noted, but only in 17/20 patients achieved full remission.

Publisher

Mediar Press

Subject

Immunology,Immunology and Allergy,Rheumatology

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