Kernicterus by glucose-6-phosphate dehydrogenase deficiency: A case report and review of the literature

被引：12

作者：

de Gurrola G.C. ^{[1
]}

Araúz J.J. ^{[1
]}

Durán E. ^{[1
]}

Aguilar-Medina M. ^{[2
]}

Ramos-Payán R. ^{[2
]}

García-Magallanes N. ^{[2
]}

Pacheco V.P. ^{[3
]}

Meraz E.A. ^{[2
]}

机构：

[1] Servicio de Genética, Hospital del Niño de Panamá, Panamá

[2] Laboratorio de Biología Molecular, Facultad de Ciencias Químico Biológicas, Universidad Autónoma de Sinaloa, Culiacán, Sinaloa

[3] Centro de Investigación Biomédica de Occidente IMSS, Guadalajara, Jalisco

来源：

Journal of Medical Case Reports | / 2卷 / 1期

关键词：

Hemolytic Anemia; G6PD Deficiency; Neonatal Screening; Primaquine; Kernicterus;

D O I：

10.1186/1752-1947-2-146

中图分类号：

学科分类号：

摘要：

Introduction: Glucose-6-phosphate dehydrogenase deficiency is an X-linked recessive disease that causes acute or chronic hemolytic anemia and potentially leads to severe jaundice in response to oxidative agents. This deficiency is the most common human innate error of metabolism, affecting more than 400 million people worldwide. Case presentation: Here, we present the first documented case of kernicterus in Panama, in a glucose-6-phosphate dehydrogenase-deficient newborn clothed in naphthalene-impregnated garments, resulting in reduced psychomotor development, neurosensory hypoacousia, absence of speech and poor reflex of the pupil to light. Conclusion: Mutational analysis revealed the glucose-6-phosphate dehydrogenase Mediterranean polymorphic variant, which explained the development of kernicterus after exposition of naphthalene. As the use of naphthalene in stored clothes is a common practice, glucose-6-phosphate dehydrogenase testing in neonatal screening could prevent severe clinical consequences. © 2008 de Gurrola et al; licensee BioMed Central Ltd.

引用

共 7 条

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[2]

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[3]

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[4]

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[5]

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[6]

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[7]

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