Phenotype-genotype correlation and treatment outcomes in mevalonate kinase deficiency: A large Turkish cohort

Kaplan, MM; Ekici Tekin, Z; Kılıç Könte, E; Balık, Z; Aydın, T; Çağlayan, Ş; Arık, SD; Kurt, T; Yıldız, Ç; Karalı, Y; Kışla Ekinci, M; Çakan, M; Doğantan, Ş; Kılbaş, G; Bozkaya Yücel, B; Tanatar, A; Şener, S; Esen, E; Öner, N; Köker, O; Demir, S; Sağ, E; Demir Yiğit, Y; Baba, Ö; Kaya Akça, Ü; Taşkın, S; Sunar Yayla, EN; Yıldız, M; Gezgin Yıldırım, D; Paç Kısaarslan, A; Kasap Demir, B; Kalyoncu, M; Gürgöze, MK; Yüksel, S; Kılıç, SŞ; Bora, B; Sözeri, B; Aktay Ayaz, N; Bilginer, Y; Kasapçopur, Ö; Özen, S; Çelikel Acar, B

doi:10.1016/j.semarthrit.2026.152963

Pediatric rheumatology

Phenotype-genotype correlation and treatment outcomes in mevalonate kinase deficiency: A large Turkish cohort

Semin Arthritis RheumPublished 7 Mar 2026Retrospective cohort study

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Authors' conclusion

The variability in clinical manifestations and treatment responses across genotypes highlights the complexity and heterogeneity of MKD, suggesting that factors beyond genotype may influence disease expression and therapeutic outcomes. We also confirm that heterozygous individuals may express the disease phenotype.

Study context

Population: Turkish pediatric patients with genetically confirmed mevalonate kinase deficiency (MKD), followed 2010–2024 at 25 pediatric rheumatology centres
Participants: 107 patients25 centres

Exposure: Genotype groups: homozygous V377I vs compound heterozygous V377I/non-V377I vs two non-V377I alleles vs single heterozygous MVK mutation
Group 1n = 45
Group 2n = 28
Group 3n = 15
Group 4n = 19
Outcome: Genotype-phenotype correlation

Methodological detailsmulticentre

Multicentre

Main finding

As reported in the abstract

Fever: 105 (98.1%)
Abdominal pain: 92 (86%)
Arthralgia: 74 (69.2%)
Diarrhea: 73 (68.2%)
Lymphadenopathy: 64 (59.8%)
Vomiting: 52 (48.6%)
Oral aphthae: 50 (46.7%)
Median age at symptom onset, months: 7 (3-24)
Median age at diagnosis, months: 71 (27-115)

Observational data: associations, not effects.

Further findings

Less frequent findings

Pancreatitis: 2 (1.9%)
Genital aphthae: 2 (1.9%)
Neurosensory hearing loss: 3 (2.8%)
Hidradenitis suppurativa: 1 (0.9%)
Amyloidosis: 4 (3.7%)
MAS: 4 (3.7%)

Anakinra response

No clinical response: 14 (13.1%)
Partial response: 17 (15.9%)
Complete response: 13 (12.1%)

Canakinumab response

No response: 2 (1.9%)
Partial response: 34 (31.8%)
Complete response: 56 (52.3%)

Reference

Authors: Kaplan MM, Ekici Tekin Z, Kılıç Könte E, Balık Z, Aydın T, Çağlayan Ş, et al.
All 42 authors
Kaplan MM, Ekici Tekin Z, Kılıç Könte E, Balık Z, Aydın T, Çağlayan Ş, Arık SD, Kurt T, Yıldız Ç, Karalı Y, Kışla Ekinci M, Çakan M, Doğantan Ş, Kılbaş G, Bozkaya Yücel B, Tanatar A, Şener S, Esen E, Öner N, Köker O, Demir S, Sağ E, Demir Yiğit Y, Baba Ö, Kaya Akça Ü, Taşkın S, Sunar Yayla EN, Yıldız M, Gezgin Yıldırım D, Paç Kısaarslan A, Kasap Demir B, Kalyoncu M, Gürgöze MK, Yüksel S, Kılıç SŞ, Bora B, Sözeri B, Aktay Ayaz N, Bilginer Y, Kasapçopur Ö, Özen S, Çelikel Acar B
Journal: Seminars in Arthritis and Rheumatism
Published: 7 Mar 2026
DOI: 10.1016/j.semarthrit.2026.152963
PubMed: 41833237

Topic: Pediatric rheumatology

Exposure definitions

Group 2: compound heterozygous mutation involving V377I and a non-V377I allele
Group 4: single heterozygous mevalonate kinase gene mutation

Key notes

No statistically significant differences between the groups in demographic features, attack characteristics, clinical manifestations, laboratory findings, or treatment outcomes

Original publication

Phenotype-genotype correlation and treatment outcomes in mevalonate kinase deficiency: A large Turkish cohort. Semin Arthritis Rheum. Published 7 March 2026. doi:10.1016/j.semarthrit.2026.152963

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