Mevalonate kinase deficiency: genetic and clinical characteristics of a Chinese pediatric cohort
Authors' conclusion
Four new mutation sites in MVK were identified, further expanding the phenotypic and genotypic spectrum of MKD and emphasizing the significance of MVK mutation patterns in influencing disease severity.
Study context
- Population
- Chinese paediatric patients diagnosed with mevalonate kinase deficiency (MKD) from a cohort of prolonged and recurrent fever of unknown origin, July 2013 to December 2024plus literature review of 20 mevalonic aciduria (MA) patients
- Participants
- 11 patients
- Exposure
- Hyperimmunoglobulin D syndrome (HIDS) vs MA
- HIDSn = 10
- MAn = 1
- Outcome
- Clinical, immunological and genetic characteristics of MKD
Methodological detailsgenotype–phenotype literature review
- Genotype–phenotype literature review
Main finding
As reported in the abstract
- Anemia
- 8 of the 11 patients
- Growth restriction
- 5/11 patients
- Developmental delay
- 4/11 patients
- Median IgD level (measured in 10 patients), IQR 18.74-385.19 µg/ml
- 85.23 µg/ml
- Novel mevalonate kinase (MVK) mutation sites: c.78G > A, c.463G > A, c.1076C > T and c.1088G > A
- 4
- Median follow-up, IQR 1.5-6 years
- 5 years
Observational data: associations, not effects.
Further findings
Response to etanercept
- Complete or partial remission
- 5 of the 6 patients
Genotype–phenotype in MA (literature review, 20 patients)
- Homozygous MVK mutations more frequently associated with MA
- Homozygous A334T: milder phenotype; I268T homozygous: more severe phenotype
Original publication
Mevalonate kinase deficiency: genetic and clinical characteristics of a Chinese pediatric cohort. Pediatr Rheumatol Online J. Published 27 July 2025. doi:10.
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