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Medline ® Abstract for Reference 19

of '高免疫球蛋白D综合征的病理生理学'

19
TI
Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D.
AU
Frenkel J, Houten SM, Waterham HR, Wanders RJ, Rijkers GT, Duran M, Kuijpers TW, van Luijk W, Poll-The BT, Kuis W
SO
Rheumatology (Oxford). 2001;40(5):579.
 
OBJECTIVES: The hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) was found recently to be caused by a deficiency of mevalonate kinase (MK). The aim of this study was to examine whether a relationship exists between the clinical expression of HIDS and the extent of MK deficiency.
METHODS: The medical records of children diagnosed with HIDS were reviewed for clinical features and serum immunoglobulin values. The mevalonic acid excretion in urine and MK enzyme activity in patients' cells were measured and the cDNA of the MVK gene was sequenced.
RESULTS: Fifteen patients with recurrent fever and raised serum immunoglobulin (Ig) D were included. Their clinical features varied. Eleven patients had a deficiency of MK, caused by mutations in the MVK gene. One mutation (V377I) was common to all 11 patients. Nine patients were compound heterozygotes for V377I and various other MVK mutations. There was no apparent relationship between the observed mutations and the clinical features. Surprisingly, fourboys had normal MK activity and no MVK mutations.
CONCLUSIONS: Most HIDS patients have mutations in the MVK gene. The clinical variability observed cannot be explained by genotypic differences. Periodic fever and elevated IgD can result from other, still unknown, causes. Hence, testing for MK deficiency is necessary in patients with unexplained periodic fever.
AD
Departments of General Paediatrics, Wilhelmina Children's Hospital, University Medical Centre Utrecht, P.O. Box 85090, 3508AB Utrecht, The Netherlands.
PMID