Experience gained in the treatment of patients with hyper-IgD syndrome (mevalonate kinase deficiency)

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Abstract

Hyper-IgD syndrome, one of the forms of mevalonate kinase deficiency (MKD), is a rare autosomal recessive disorder caused by mutation in the MVK gene. The disease usually starts in early age. The most specific clinical manifestation includes recurrent episodes of fever, abdominal pain, diarrhea, vomiting, arthralgia, and lymphadenopathy. However, not all patients present with the typical clinical features of MKD. A retrospective analysis of clinical manifestations and results of therapy of 6 children (4 girls, 2 boys) with MKD is carried out. The first symptoms of the disease manifested during the first 6 months of life in all the patients. All patients suffered from periodical fever, lymphadenopathy (mainly the cervical nodes were involved), abdominal pain, nausea/vomiting. Five patients had diarrhea, sometimes with blood, and one patient suffered from chronic constipation. Rash was observed in 4 patients, myalgia and arthralgia in 4, aphthous stomatitis in 5, and neurological symptoms in 2 patients. One patient developed periorbital edema and eyelid hyperemia during an attack: these symptoms were not described previously. One patient died under conditions of macrophage activation syndrome and amyloidosis. Four of six patients received interleukin-1 inhibitors (anakinra and/or canakinumab), which led to clinical and laboratory remission.

About the authors

Anna L. Kozlova

Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev

Author for correspondence.
Email: annamax-99@mail.ru
Russian Federation

Tatyana V. Varlamova

Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev

Email: varltatwell@mail.ru
Russian Federation

Sergey B. Zimin

Pediatric Municipal Clinical Hospital No. 9 named after G.N.Speransky

Email: zimin-sb@rambler.ru
Russian Federation

Galina A. Novichkova

Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev

Email: gnovichkova@yandex.ru
Russian Federation

Anna Yu. Shcherbina

Federal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry Rogachev

Email: shcher26@hotmail.com
Russian Federation

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Copyright (c) 2016 Kozlova A.L., Varlamova T.V., Zimin S.B., Novichkova G.A., Shcherbina A.Y.

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