Familial aggregation of a chinese female premenopausal gout: Monogenic, polygenic, or clinical coincidence?

摘要

Gout is a common chronic crystal arthritis, affecting predominantly males of 30 to 60 years old. Females are often protected from gout, especially those with menses, which comprises only 5% to 34% of all female patients with gout.1 Previous renal dysfunction, medications, and genetic diseases should be considered in premenopausal female patients with primary gout.2 There are some rare inherited diseases that could cause gout, including hyperuricemic nephropathy familial juvenile (HNFJ) syndrome, Lesch-Nyhan syndrome, and phosphoribosylpyrophosphate synthetase superactivity syndrome. In recent years, genome-wide association studies have identified several genes associated with gout and hyperuricemia, among which ABCG2, SLC22A12, and SLC2A9 have the strongest and most consistent association.3 This report described a family with 3 female patients, all of whom had primary gout before menopause; none of the male members were affected. Genetic studies were applied to explore possible genetic causes.