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Serum zinc levels in heterozygous carriers of the gene for acrodermatitis enteropathica: identification of a carrier state is not possible.

作者信息

Olholm-Larsen P

出版信息

Hum Genet. 1979 Jan 19;46(1):65-74. doi: 10.1007/BF00278903.

DOI:10.1007/BF00278903
PMID:429009
Abstract

Three cases of acrodermatitis enteropathica (a.e.) from two nonrelated families are described. Two siblings had characteristic symptoms of a.e. in childhood. Both survived to adulthood without treatment, at which time the clinical picture became uncharacteristic of a.e. Even so, the serum zinc levels confirmed the diagnosis in both cases. The third case showed classic symptoms of a.e.; the patient had a greatly reduced serum zinc level and responded at once to treatment with zinc sulphate. Heterozygous carriers of the gene for a.e. have often had slightly reduced serum zinc levels. The value of this test could probably be improved by correcting the normal range of serum zinc for factors known to influence this, such as the patient's age and serum albumin level. The normal range ought also to be corrected for diurnal and postprandial variations of serum zinc.

摘要

相似文献

1
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引用本文的文献

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Acrodermatitis enteropathica in the pediatric population: a literature review of real-world studies.儿科人群中的肠病性肢端皮炎:真实世界研究的文献综述
Front Nutr. 2025 Jun 13;12:1590075. doi: 10.3389/fnut.2025.1590075. eCollection 2025.
2
The effect of the acrodermatitis enteropathica mutation on zinc uptake in human fibroblasts.
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3
Acrodermatitis enteropathica.肠病性肢端皮炎
J Inherit Metab Dis. 1983;6 Suppl 1:39-43. doi: 10.1007/BF01811322.

本文引用的文献

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