Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review

被引：0

作者：

Yannick Moutapam-Ngamby—Adriaansen

François Maillot

François Labarthe

Bertrand Lioger

机构：

[1] CHRU de Tours,Service de Médecine Interne

[2] CHRU de Tours,Reference Center for Inborn Errors of Metabolism ToTeM

[3] Hôpital Clocheville,Service de Pédiatrie

[4] INSERM U1253,undefined

[5] iBrain,undefined

[6] Université François Rabelais de Tours,undefined

[7] INSERM U1069,undefined

[8] Nutrition,undefined

[9] Croissance et Cancer,undefined

[10] Faculté de Médecine,undefined

[11] Université François Rabelais de Tours,undefined

[12] CHRU de Tours,undefined

[13] Service de Médecine Interne Et Polyvalente,undefined

[14] 2,undefined

[15] Centre Hospitalier de Blois,undefined

来源：

Orphanet Journal of Rare Diseases | / 19卷

关键词：

Inherited metabolic diseases; Diagnosis; Cytopenia; Anemia; Neutropenia; Splenomegaly; Macrocytosis; Hemolysis;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

Inherited Metabolic Diseases (IMD) encompass a diverse group of rare genetic conditions that, despite their individual rarity, collectively affect a substantial proportion, estimated at as much as 1 in 784 live births. Among their wide-ranging clinical manifestations, cytopenia stands out as a prominent feature. Consequently, IMD should be considered a potential diagnosis when evaluating patients presenting with cytopenia. However, it is essential to note that the existing scientific literature pertaining to the link between IMD and cytopenia is limited, primarily comprising case reports and case series. This paucity of data may contribute to the inadequate recognition of the association between IMD and cytopenia, potentially leading to underdiagnosis. In this review, we synthesize our findings from a literature analysis along with our clinical expertise to offer a comprehensive insight into the clinical presentation of IMD cases associated with cytopenia. Furthermore, we introduce a structured diagnostic approach underpinned by decision-making algorithms, with the aim of enhancing the early identification and management of IMD-related cytopenia.

引用

共 412 条

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