TürkiyeResearch and clinical trials
One of the largest mevalonate kinase deficiency series published from Türkiye, with 107 children from 25 centers
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
In Türkiye, 107 children with MKD were studied at 25 pediatric rheumatology centers. Symptoms began at a median age of 7 months. Diagnosis, however, was made at a median age of 71 months. The most common finding was fever, followed by abdominal pain. The disease was also seen in 19 children with a change in only one copy of the gene. More than half of those receiving canakinumab had a complete response.
What does it mean for patients and families?
This disease should also be considered when repeated fever attacks begin in infancy. Diagnosis can be delayed for years. Treatment choices are made with a pediatric rheumatologist.
Source
Scientific paper: Phenotype-genotype correlation and treatment outcomes in mevalonate kinase deficiency: A large Turkish cohort. Seminars in Arthritis and Rheumatism, 2026. DOI: 10.1016/j.semarthrit.2026.152963 · PubMed 41833237
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Mevalonate kinase deficiency (MKD, hyper-IgD syndrome)
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.