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A case of simultaneous haploinsufficiency of A20 and methylmalonic aciduria
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- Author:
- No author available
- Journal Title:
- Chinese Journal of Pediatrics
- Issue:
- 3
- DOI:
- 10.3760/cma.j.cn112140-20220811-00722
- Key Word:
- No keyword available
Abstract： 患儿 男，6月龄，因“反复发热2个月余”就诊，基因检测发现同时存在2个基因缺陷。TNFAIP3基因存在c.1243_1247del杂合变异，为未报道的新发变异；MMACHC基因存在c.349G>C和c.482G>A复合杂合变异。确诊A20单倍剂量不足及甲基丙二酸尿症2种罕见遗传病，给予羟钴胺、左卡尼汀、沙利度胺等治疗。随访3年，患儿生长发育正常，腹泻好转，仍有反复发热。
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