首页|以腹泻为主要症状的新生儿播散性马尔尼菲篮状菌感染1例

以腹泻为主要症状的新生儿播散性马尔尼菲篮状菌感染1例

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报道1例以腹泻为主要起病症状的新生儿播散性马尔尼菲篮状菌病.患儿,男,生后25 d,因"发热伴腹泻8 d"入院,血培养及痰培养均提示马尔尼菲篮状菌,外周血IgG水平明显降低,进一步对患儿、患儿父母及姐姐进行免疫缺陷病相关基因检测,提示患儿存在CD40LG基因突变所致X连锁高IgM综合征,患儿母亲及姐姐为该位点杂合变异,父亲正常.确诊后给予伏立康唑静滴治疗症状好转,复查血培养及痰培养阴性出院,出院后继续口服伏立康唑片巩固治疗,随访患儿未再发病.
Case report and literature review of neonatal disseminated Talaromyces marneffei with diarrhea as the main manifestation
To reportsa case of disseminated Talaromyces marneffei disease in a newborn with diarrhea as the main symp-tom.The male patient,25 days after birth,was admitted to the hospital because of"fever with diarrhea for 8 days".Both blood culture and sputum culture found Talaromyces marneffei,the level of IgG in peripheral blood was significantly re-duced.Further genetic testing related to immunodeficiency disease was carried out for the child and his family,indicating that the child had X-linked high IgM syndrome caused by CD40LG gene mutation.The mother and sister had heterozygous variation at this site,and the father was normal.After diagnosis,voriconazole was given to improve the symptoms.After 21 days of treatment,blood and sputum culture were negative and discharged from the hospital,and continued to take voricon-azole tablets for consolidation treatment.There was no recurrence in the follow-up.

Talaromyces marneffeiprimary immunodeficiency diseasesgenetic variationneonatesdiarrhea

蔡娜、沈蕾蕾、胡影、陈盛

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陆军军医大学第一附属医院儿科,重庆 400038

马尔尼菲篮状菌 原发性免疫缺陷病 基因变异 新生儿 腹泻

2024

中国真菌学杂志
上海长征医院

中国真菌学杂志

CSTPCD
影响因子:0.557
ISSN:1673-3827
年,卷(期):2024.19(4)