儿童获得性和遗传性锌缺乏相关疾病：病例系列与叙述性综述

Acquired and Inherited Zinc Deficiency-Related Diseases in Children: A Case Series and a Narrative Review.

作者信息

Bellini Tommaso, Bustaffa Marta, Tubino Barbara, Giordano Benedetta, Formigoni Clelia, Fueri Elena, Casabona Federica, Vanorio Barbara, Pastorino Andrea, Herzum Astrid, Matucci-Cerinic Caterina, Arrigo Serena, Viglizzo Gianmaria, Piccotti Emanuela

机构信息

Pediatric Emergency Room and Emergency Medicine Unit, Emergency Department, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.

Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal, and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy.

出版信息

Pediatr Rep. 2024 Jul 25;16(3):602-617. doi: 10.3390/pediatric16030051.

DOI:10.3390/pediatric16030051

PMID:39189285

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11348185/

Abstract

Zinc deficiency is a significant global health concern among children, manifesting in various acquired and inherited conditions. This comprehensive overview of acquired and inherited zinc deficiency-related diseases in children aimed to explore the clinical presentations, diagnostic challenges, and management strategies associated with these conditions. This case series elucidates the diverse clinical manifestations of zinc deficiency in pediatric patients, ranging from dermatitis and growth retardation to immune dysregulation and neurological abnormalities, and discusses the underlying genetic mechanisms, clinical phenotypes, and therapeutic interventions. The complexity of zinc deficiency-related diseases in children underscores the need for a multidisciplinary approach involving pediatricians, dermatologists, geneticists, and nutritionists to optimize patient care and outcomes.

摘要

锌缺乏是全球儿童健康的一个重大问题，在各种获得性和遗传性疾病中都有表现。本对儿童获得性和遗传性锌缺乏相关疾病的全面概述旨在探讨与这些疾病相关的临床表现、诊断挑战和管理策略。本病例系列阐明了儿科患者锌缺乏的多种临床表现，从皮炎和生长发育迟缓到免疫失调和神经异常，并讨论了潜在的遗传机制、临床表型和治疗干预措施。儿童锌缺乏相关疾病的复杂性凸显了需要儿科医生、皮肤科医生、遗传学家和营养学家采取多学科方法，以优化患者护理和治疗效果。