Diagnostic Challenges in Hemophagocytic Lymphohistiocytosis, a Rare, Potentially Fatal Disease: Two Case Studies

被引：4

作者：

Ionescu, Marcela Daniela ^{[1
,2
]}

Prajescu, Bianca ^{[2
]}

Taras, Roxana ^{[1
,2
]}

Popescu, Nicoleta ^{[2
]}

Vidlescu, Ruxandra ^{[2
]}

Smarandoiu, Mihaela ^{[2
]}

Rosca, Loredana-Elena ^{[2
]}

Enculescu, Augustina ^{[2
]}

Berghea, Elena Camelia ^{[1
,2
]}

Toma, Claudia Lucia ^{[3
,4
]}

机构：

[1] Carol Davila Univ Med & Pharm, Dept Pediat, Bucharest 020021, Romania

[2] Marie Curie Emergency Childrens Hosp, Bucharest 041451, Romania

[3] Carol Davila Univ Med & Pharm, Dept Pneumol, Bucharest 020021, Romania

[4] Marius Nasta Inst Pneumol, Bucharest 010024, Romania

来源：

JOURNAL OF CLINICAL MEDICINE | 2024年 / 13卷 / 06期

关键词：

hemophagocytic lymphohistiocytosis; ferritin; sepsis; MACROPHAGE ACTIVATION SYNDROME; PERFORIN GENE-MUTATIONS; CLINICAL-FEATURES; CHILDREN; DEFECTS;

D O I：

10.3390/jcm13061643

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Hemophagocytic lymphohistiocytosis (HLH) is a rare, and potentially fatal, syndrome, characterized by immune system dysregulation, with excessive activation of the macrophages and cytotoxic T cells. It can be classified into primary (genetic) and secondary (acquired) forms. HLH presents with fever, hepatosplenomegaly, cytopenia, and hyperferritinemia, with involvement of various organs. The initial symptoms of HLH are non-specific, but as, if untreated, it can progress rapidly to multiorgan failure, timely diagnosis is essential. We present here two cases of HLH in infants that illustrate the importance of early diagnosis and appropriate treatment, along with a short review of HLH.

引用

页数：18

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