ReviewPediatric rheumatology online journal2016
Natural history of mevalonate kinase deficiency: a literature review.
Review in Pediatric rheumatology online journal, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
30 citing papers in PubMed, 2 syntheses or guidelines pooled it, 68 citations in OpenAlex.
- Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations.Frontiers in immunology · 2024Pooled it
- Pooled it
- A Diagnostic Odyssey: Mevalonate Kinase Deficiency Revealed by Genetic Testing in Adulthood.Genes · 2026Article
- Metabolic masqueraders of paediatric and adult rheumatic diseases.Nature reviews. Rheumatology · 2026Review
- Myopathy and ataxia related to impaired mitochondrial function in mevalonate kinase deficiency.Orphanet journal of rare diseases · 2026Article
- Hyperimmunoglobulin syndromes: A review of HIGM, HIES, and HIDS.Journal of translational autoimmunity · 2025Review
- Mevalonate kinase deficiency (hyperimmunoglobulin D syndrome) in a Tanzanian girl: a case report.Journal of medical case reports · 2025Article
- Long-Term Safety and Effectiveness of Canakinumab in Patients with MKD/HIDS: Interim Analysis of the RELIANCE Registry.Rheumatology and therapy · 2025Article
- The riddle of recurrent fever: a clinical approach to pediatric autoinflammatory diseases.Frontiers in pediatrics · 2024Review
- Uveitis Associated with Monogenic Autoinflammatory Syndromes in Children.Ocular immunology and inflammation · 2023Review
- Kidney Involvement in Autoinflammatory Diseases.Kidney diseases (Basel, Switzerland) · 2023Review
- Recurrent Fever with Oral Lesions in Egyptian Children: A Familial Mediterranean Fever Diagnosis Not to Be Missed.Children (Basel, Switzerland) · 2022Article
- Prenylation Defects and Oxidative Stress Trigger the Main Consequences of Neuroinflammation Linked to Mevalonate Pathway Deregulation.International journal of environmental research and public health · 2022Review
- Twists and turns of the genetic story of mevalonate kinase-associated diseases: A review.Genes & diseases · 2022Review
- [Autoinflammation-differences between children and adults].Zeitschrift fur Rheumatologie · 2022Review
- An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment.Molecular syndromology · 2022Article
- Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report.Pediatric rheumatology online journal · 2021Article
- Reasons for canakinumab initiation among patients with periodic fever syndromes: a retrospective medical chart review from the United States.Pediatric rheumatology online journal · 2021Article
- Lymphadenopathy at the crossroad between immunodeficiency and autoinflammation: An intriguing challenge.Clinical and experimental immunology · 2021Review
- Mevalonate Kinase-Associated Diseases: Hunting for Phenotype-Genotype Correlation.Journal of clinical medicine · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 lymphadenopathy, gastrointestinal symptoms, arthralgia, myalgia, skin rash, and aphthous ulcers. Patients with MVA also have intrauterine growth retardation, congenital defects (cataracts, shortened limbs, and dysmorphic craniofacial features), neurological disease, and failure to thrive. Mean age at onset of symptoms is within the first year of life. There is a delay by several years between symptom onset and diagnosis, which is in part attributable to the initial misdiagnosis due to the rarity and nonspecific clinical manifestations of disease. The frequency of recurrent febrile attacks is highest in childhood and gradually decreases after adolescence. MKD is associated with rare long-term complications such as type AA amyloidosis, joint contractures, abdominal adhesions, renal angiomyolipoma, and severe pneumococcal infections. Frequent febrile attacks significantly impair several aspects of patients' and caregivers' quality of life, with an adverse impact on patients' daily activities, education, and employment. Lifespan is generally normal for HIDS whereas MVA can be fatal in early childhood.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.