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Research On Clinical And Etiology Of Early-onset Hyperuricemia

Posted on:2021-03-09Degree:MasterType:Thesis
Country:ChinaCandidate:L H ChenFull Text:PDF
GTID:2494306503989949Subject:Internal medicine (endocrinology and metabolic diseases)
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Objectives In order to understand the clinical characteristics and etiology of early-onset hyperuricemia/gout,this study intends to conduct three aspects of the prevalence of adolescent hyperuricemia,the clinical characteristics and influencing factors of earlyonset gout,and the pathogenic genes of patients with early-onset gout the study.Methods(1)All articles about the prevalence of hyperuricemia in adolescents from 2000 to 2019 in Asia were comprehensively searched in multiple databases.Stata15.0 was used for all analyses;(2)Male patients with gout onset at the age of ≤30 years were defined as the“early-onset” group,and those with onset at 30~60 years were defined as the “late-onset”group.Clinical characteristics and family histories were compared between groups.Logistic regression analysis was used to explore the influencing factors of early-onset gout.(3)Whole exon sequencing technique was used to analyze the pathogenic genes of a patient with juvenile-onset gout.Results(1)11 articles were eventually included for meta-analysis.The pooled prevalence of hyperuricemia in adolescents was 15.4%(95% CI 9.5-21.2%).The prevalence of hyperuricemia in adolescents in Asia was high,and the prevalence of adolescents in Taiwan was the highest.The prevalence in coastal areas was higher than that in inland areas.The prevalence of men was higher than that of women.After excluding the high prevalence study in Taiwan,the prevalence of adolescents has been increasing year by year.(2)Compared with the late-onset group,patients with early-onset gout had higher consumption rates of sugar-sweetened beverage(28.0% vs.15.0%,P=0.001),and larger proportions of family histories of diabetes(30.8% vs 20.4%,P<0.001)and hypertension(51.2% vs.42.6%,P=0.003).Logistic regression analysis showed that factors associated with early-onset gout were drinking sugar-sweetened beverage(p =0.012),family history of diabetes(p = 0.037).(3)The whole exon sequencing results of the patients showed that the patient’s G6PC gene c.260 delG/c.532C>G complex heterozygous mutation.The father of the patient carried the heterozygous variant locus of c.260 delg,and the mother carried the heterozygous variant locus of c.532 c >.C.260 delG has not been reported in human gene mutation database.Conclusions(1)The prevalence of hyperuricemia in adolescents is high and on the rise.The subgroup analysis suggested that the geographical region,the economic level,and sex maybe associated with prevalence;(2)Early-onset gout was associated with a family history of diabetes.Patients with family histories of diabetes are more likely to have early-onset gout/hyperuricemia,which may be associated with a common genetic basis;(3)The gout pathogenic gene in the patient is G6PC,who was diagnosed as glycogen storage disease type Ia with gout.
Keywords/Search Tags:Hyperuricemia, gout, early onset, family history, genetics
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