Pediatric Hematology/Oncology and ImmunopathologyPediatric Hematology/Oncology and ImmunopathologyВопросы гематологии/онкологии и иммунопатологии в педиатрии1726-17082414-9314Fund Doctors, Innovations, Science for Children14810.24287/1726-1708-2016-15-1-46-53ИММУНОЛОГИЯExperience gained in the treatment of patients with hyper-IgD syndrome (mevalonate kinase deficiency)Опыт ведения больных с гипep-IgD-синдромом (синдромом дефицита мевалонаткиназы)KozlovaAnna L.КозловаАнна Леонидовна
Russian Federation
annamax-99@mail.ruVarlamovaTatyana V.ВарламоваТатьяна Владимировна
Russian Federation
varltatwell@mail.ruZiminSergey B.ЗиминСергей Борисович
Russian Federation
zimin-sb@rambler.ruNovichkovaGalina A.НовичковаГалина Анатольевна
Russian Federation
gnovichkova@yandex.ruShcherbinaAnna Yu.ЩербинаАнна Юрьевна
Russian Federation
shcher26@hotmail.comFederal Research Center of Pediatric Hematology, Oncology, and Immunology named after Dmitry RogachevФедеральный научно-клинический центр детской гематологии, онкологии и иммунологии им. Дмитрия Рогачева, Минздрава РоссииPediatric Municipal Clinical Hospital No. 9 named after G.N.SperanskyДетская городская клиническая больница № 9 им. Г.Н. Сперанского Департамента здравоохранения Москвы19032016151465319092018Copyright ©; 2016, «D. Rogachev NMRCPHOI»Copyright ©; 2016, ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава России2016«D. Rogachev NMRCPHOI»ФГБУ «НМИЦ ДГОИ им. Дмитрия Рогачева» Минздрава Россииhttps://creativecommons.org/licenses/by/4.0https://hemoncim.com/jour/article/view/148

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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