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Hypergammaglobulinemia D and Periodic Fever Syndrome (HIDS) in a 3-year-old Patient from Puerto Rico.
P R Health Sci J
September 2024
Ponce Health Sciences University School of Medicine, Ponce, PR.
Article Synopsis
- Mevalonate kinase deficiency is a rare genetic disorder caused by mutations in the MVK gene, leading to various autoinflammatory diseases, including hyper-IgD syndrome and mevalonic aciduria.
- Approximately 300 cases have been documented globally, showcasing its rarity.
- A 3-year-old girl from Puerto Rico was diagnosed with hyper-IgD syndrome after experiencing fever, joint pain, and skin lesions from an early age; she will be treated with canakinumab following routine vaccinations.
Key Clinical Message: This case highlights the potential for later-onset Hyper-IgD syndrome (HIDS) even beyond infancy. Clinicians evaluating children with recurrent fever, skin rash, and arthralgia should consider HIDS in the differential diagnosis, regardless of age. Early suspicion and genetic testing can lead to a timely diagnosis and targeted therapy with Anakinra, significantly improving patient outcomes.
View Article and Find Full Text PDFMolecular and cellular consequences of mevalonate kinase deficiency.
Biochim Biophys Acta Mol Basis Dis
June 2024
Laboratory Genetic Metabolic Diseases, Department of Laboratory Medicine, Amsterdam University Medical Centers, Location Academic Medical Center, Amsterdam, the Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands; Amsterdam Reproduction & Development, Amsterdam, the Netherlands. Electronic address:
Mevalonate kinase deficiency (MKD) is an autosomal recessive metabolic disorder associated with recurrent autoinflammatory episodes. The disorder is caused by bi-allelic loss-of-function variants in the MVK gene, which encodes mevalonate kinase (MK), an early enzyme in the isoprenoid biosynthesis pathway. To identify molecular and cellular consequences of MKD, we studied primary fibroblasts from severely affected patients with mevalonic aciduria (MKD-MA) and more mildly affected patients with hyper IgD and periodic fever syndrome (MKD-HIDS).
View Article and Find Full Text PDFMevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype.
Front Immunol
April 2024
Laboratory Genetic Metabolic Diseases, Department of Laboratory Medicine, Amsterdam University Medical Centers, Location Academic Medical Center, Amsterdam, Netherlands.
Objective: Bi-allelic pathogenic variants in the gene, which encodes mevalonate kinase (MK), an essential enzyme in isoprenoid biosynthesis, cause the autoinflammatory metabolic disorder mevalonate kinase deficiency (MKD). We generated and characterized MK-deficient monocytic THP-1 cells to identify molecular and cellular mechanisms that contribute to the pro-inflammatory phenotype of MKD.
Methods: Using CRISPR/Cas9 genome editing, we generated THP-1 cells with different MK deficiencies mimicking the severe (MKD-MA) and mild end (MKD-HIDS) of the MKD disease spectrum.
Identification of FDA-approved drugs that increase mevalonate kinase in hyper IgD syndrome.
J Inherit Metab Dis
March 2024
Department of Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, Academic Medical Center, Amsterdam, the Netherlands.
Mevalonate kinase deficiency (MKD) is an autoinflammatory metabolic disorder caused by bi-allelic loss-of-function variants in the MVK gene, resulting in decreased activity of the encoded mevalonate kinase (MK). Clinical presentation ranges from the severe early-lethal mevalonic aciduria to the milder hyper-IgD syndrome (MKD-HIDS), and is in the majority of patients associated with recurrent inflammatory episodes with often unclear cause. Previous studies with MKD-HIDS patient cells indicated that increased temperature, as caused by fever during an inflammatory episode, lowers the residual MK activity, which causes a temporary shortage of non-sterol isoprenoids that promotes the further development of inflammation.
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