Observational studyMedicine2016
Observational Study of a French and Belgian Multicenter Cohort of 23 Patients Diagnosed in Adulthood With Mevalonate Kinase Deficiency.
Observational study in Medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist.Arthritis & rheumatology (Hoboken, N.J.) · 2022Pooled it
- A Diagnostic Odyssey: Mevalonate Kinase Deficiency Revealed by Genetic Testing in Adulthood.Genes · 2026Article
- Novel compound heterozygous MVK variants cause early-onset mevalonic aciduria in a Chinese infant.Frontiers in pediatrics · 2026Article
- Tocilizumab effectively reduces flares of hyperimmunoglobulin D syndrome in children: Three cases in China.Molecular genetics and metabolism reports · 2024Article
- Knowledge and Current Practices in Monogenic Uveitis: An International Survey by IUSG and AIDA Network.Ophthalmology and therapy · 2024Article
- Uveitis Associated with Monogenic Autoinflammatory Syndromes in Children.Ocular immunology and inflammation · 2023Review
- Efficacy of Anakinra Treatment in two Moroccan Patients With Mevalonate Kinase Deficiency.Global pediatric health · 2023Article
- Autoinflammatory manifestations in adult patients.Clinical and experimental immunology · 2022Article
- Histologic Patterns and Clues to Autoinflammatory Diseases in Children: What a Cutaneous Biopsy Can Tell Us.Dermatopathology (Basel, Switzerland) · 2021Review
- [Autoinflammatory syndromes and AA amyloidosis].Zeitschrift fur Rheumatologie · 2020Review
- Comments on the letter of Galland et al. on "A rare cause of AA amyloidosis and end-stage kidney failure".Pediatric nephrology (Berlin, Germany) · 2019Article
- Vasculitis and vasculitis-like manifestations in monogenic autoinflammatory syndromes.Rheumatology international · 2018Review
- Mevalonate kinase deficiency: current perspectives.The application of clinical genetics · 2016Review
Corrections and comments
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Authors and funding
30 authors at 16 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The aim of this study was to describe the clinical and biological features of Mevalonate kinase deficiency (MKD) in patients diagnosed in adulthood. This is a French and Belgian observational retrospective study from 2000 to 2014. To constitute the cohort, we cross-check the genetic and biochemical databases. The clinical, enzymatic, and genetic data were gathered from medical records. Twenty-three patients were analyzed. The mean age at diagnosis was 40 years, with a mean age at onset of symptoms of 3 years. All symptomatic patients had fever. Febrile attacks were mostly associated with arthralgia (90.9%); lymphadenopathy, abdominal pain, and skin lesions (86.4%); pharyngitis (63.6%); cough (59.1%); diarrhea, and hepatosplenomegaly (50.0%). Seven patients had psychiatric symptoms (31.8%). One patient developed recurrent seizures. Three patients experienced renal involvement (13.6%). Two patients had angiomyolipoma (9.1%). All but one tested patients had elevated serum immunoglobulin (Ig) D level. Twenty-one patients had genetic diagnosis; most of them were compound heterozygote (76.2%). p.Val377Ile was the most prevalent mutation. Structural articular damages and systemic AA amyloidosis were the 2 most serious complications. More than 65% of patients displayed decrease in severity and frequency of attacks with increasing age, but only 35% achieved remission. MKD diagnosed in adulthood shared clinical and genetic features with classical pediatric disease. An elevated IgD concentration is a good marker for MKD in adults. Despite a decrease of severity and frequency of attacks with age, only one-third of patients achieved spontaneous remission.
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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.