Опыт ведения больных с гипep-IgD-синдромом (синдромом дефицита мевалонаткиназы)

Статья в Elpub

Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2016; 15: 46-53

Опыт ведения больных с гипep-IgD-синдромом (синдромом дефицита мевалонаткиназы)

Козлова Анна Леонидовна, Варламова Татьяна Владимировна, Зимин Сергей Борисович, Новичкова Галина Анатольевна, Щербина Анна Юрьевна

https://doi.org/10.24287/1726-1708-2016-15-1-46-53

Аннотация

Гипер-IgD-синдром - одна из форм синдрома дефицита мевалонаткиназы (СДМК) - редкое заболевание, которое наследуется по аутосомно-рецессивному типу и вызывается мутацией/мутациями в гене MVK. СДМК обычно дебютирует в раннем возрасте. Традиционная клиническая картина включает повторяющиеся эпизоды лихорадки, болей в животе, диареи, рвоты, болей в суставах и увеличения периферических лимфатических узлов. Однако не все пациенты имеют типичную клиническую картину СДМК. Мы провели ретроспективный анализ клинических проявлений и результатов лечения 6 детей (4 девочки, 2 мальчика) с СДМК. Первые симптомы болезни у всех пациентов появились в течение первых 6 мес жизни. Всех пациентов беспокоили периодическая лихорадка, лимфаденопатия (в основном шейной группы), боль в животе, тошнота/рвота. У 5 пациентов была диарея, иногда с примесью крови, 1 пациент страдал хроническими запорами. Сыпь наблюдалась у 4 пациентов, миалгия, артралгия - у 4, афтозный стоматит - у 5, неврологическая симптоматика - у 2 пациентов. У одного пациента во время приступа развивались периорбитальной отек и гиперемия век, которые не описаны в литературе. Умер 1 пациент на фоне развившегося синдрома активации макрофагов и амилоидоза. Четверо из 6 пациентов получали терапию ингибиторами интерлейкина-1 (анакинра и/или канакинумаб), в результате которой удалось получить клинико-лабораторную ремиссию.

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Pediatric Hematology/Oncology and Immunopathology. 2016; 15: 46-53

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

Kozlova Anna L., Varlamova Tatyana V., Zimin Sergey B., Novichkova Galina A., Shcherbina Anna Yu.

https://doi.org/10.24287/1726-1708-2016-15-1-46-53

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.

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2. Stoffels M, Simon A. Hyper-IgD syndrome or mevalonate kinase deficiency. Curr Opin Rheumatol. 2011; 23(5): 419-23.

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