OBJECTIVE: To analyze the clinical and genetic features of a patient with mevalonate kinase deficiency (MKD). METHODS: Whole exome sequencing was carried out for the proband. Candidate variant was verified by Sanger sequencing. RESULTS: The proband was found to harbor compound heterozygous variants of the MVK gene, including a c.248C>T (p.Phe83Cys) variant derived from his father and a c.971C>T (p.Ala324Val) variant from his mother. Based on the guidelines of the American College of Medical Genetics and Genomics, both variations were predicted to be likely pathogenic (PM1 + PM2 + PM3 + PP3). CONCLUSION The compound heterozygous variants of the MVK gene probably underlay the MKD in the proband. Above findings have enriched the mutational spectrum of the MVK gene.
Child ; Genomics ; Humans ; Immunoglobulin D/genetics* ; Mevalonate Kinase Deficiency/genetics* ; Mutation ; Whole Exome Sequencing

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent episodes of fever accompanied by peritonitis, pleuritis, arthritis, or erysipelas-like erythema. It is known to occur mainly among Mediterranean and Middle Eastern populations such as non-Ashkenazi Jews, Arabs, Turks, and Armenians. FMF is not familiar to clinicians beyond this area and diagnosing FMF can be challenging. We report a 22-yr old boy who presented with fever, arthalgia and abdominal pain. He had a history of recurrent episodes of fever associated with arthalgia which would subside spontaneously or by antipyretics. Autosomal recessive periodic fever syndromes were suspected. Immunoglobulin D (IgD) level in the serum was elevated and DNA analysis showed complex mutations (p.Glu148Gln, p.Pro369Ser, p.Arg408Gln) in the MEFV gene. 3D angio computed tomography showed total thrombosis of splenic vein with partial thrombosis of proximal superior mesenteric vein, main portal vein and intrahepatic both portal vein. This is a case of FMF associated with multiple venous thrombosis and elevated IgD level. When thrombosis is associated with elevated IgD, FMF should be suspected. This is the first adult case reported in Korea.
Abdominal Pain/etiology ; Arthralgia/etiology ; Cytoskeletal Proteins/genetics/metabolism ; Familial Mediterranean Fever/complications/*diagnosis ; Humans ; Immunoglobulin D/*blood ; Male ; Mesenteric Veins ; Mevalonate Kinase Deficiency/complications/*diagnosis ; Mutation ; Portal Vein ; Republic of Korea ; Splenic Vein ; Tomography, X-Ray Computed ; Venous Thrombosis/complications/*diagnosis ; Young Adult