Impact of mevalonate kinase deficiency (MKD) on the quality of life in children and young adults: a national multicentre study
نویسندگان
چکیده
Methods MVK gene was analyzed in 950 consecutive patients with periodic fever. 40 MKD patients were identified. Spontaneous disease course was classified as follows: i) resolution (no episodes in the last 6 months), ii) improvement (reduction of more then 30% of fever episodes) iii) stationary iv) worsening (increase frequency of fever episodes or appearance of new major clinical manifestation).The Child Health Questionnaire (CHQPF 50) was used to assess the health related quality of life (HRQL). An international sample of 3315 healthy children (52.2% female), with a mean (SD) age of 11.2 (3.8) years constituted the healthy control group.
منابع مشابه
Interleukin-1 antagonists in Mevalonate Kinase Deficiency
Background Mevalonate Kinase Deficiency (MKD) is one of the autoinflammatory fever syndromes, caused by mutations in the MKD gene. Systemic inflammatory symptoms may be mild to severe leading to early death, and recurrent bacterial infections frequently develop in the disease course. On demand NSAID and steroids are the most commonly used. Few case-reports suggested that interleukin-1 (IL-1) an...
متن کاملNatural history of mevalonate kinase deficiency: a literature review.
Mevalonate kinase deficiency (MKD), a very rare autosomal recessive autoinflammatory disease with multiple organ involvement, presents clinically as hyperimmunoglobulinemia D syndrome (HIDS), a less severe phenotype and more common form, and mevalonic aciduria (MVA), a more severe phenotype and rare form. MKD is characterized by recurrent febrile attacks that are frequently accompanied by lymph...
متن کاملMevalonate kinase deficiency: current perspectives
Mevalonate kinase deficiency (MKD) is a recessively inherited autoinflammatory disorder with a spectrum of manifestations, including the well-defined clinical phenotypes of hyperimmunoglobulinemia D and periodic fever syndrome and mevalonic aciduria. Patients with MKD have recurrent attacks of hyperinflammation associated with fever, abdominal pain, arthralgias, and mucocutaneous lesions, and m...
متن کاملDiagnostic value of urinary mevalonic acid excretion in mevalonate kinase deficiency (MKD)
Introduction Mevalonate kinase deficiency (MKD) is a rare hereditary autoinflammatory syndrome, characterized by recurrent fever episodes with gastrointestinal complaints, rash and arthralgia. The deficient mevalonate kinase activity leads to elevated mevalonic acid, which is excreted in the urine. Therefore, an elevated mevalonic acid excretion is suggestive of MKD. However, the diagnostic val...
متن کاملSystemic and neuronal inflammatory markers in a mouse model of mevalonate kinase deficiency: a strain-comparative study.
BACKGROUND/AIM There is a lack of reliable animal models for the study of the rare auto-inflammatory disease mevalonate kinase deficiency (MKD). The one most frequently used is a biochemical model, obtained by treating BALB/c mice in order to block the mevalonate pathway, thus attempting to reproduce the inflammatory pattern presented in patients. This study aims to assess the role played in pa...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره 9 شماره
صفحات -
تاریخ انتشار 2011