Zellweger spectrum disorders: clinical overview and management approach.
Zellweger spectrum disorders: clinical overview and management approach.
复制标题
DOI：
10.1186/s13023-015-0368-9
复制
发表时间：
2015-12-01
影响因子：
3.7
通讯作者：
Poll-The BT
中科院分区：
文献类型：
--
作者：
Klouwer FC;Berendse K;Ferdinandusse S;Wanders RJ;Engelen M;Poll-The BT
齐薇格谱系障碍（ZSDs）是由PEX基因缺陷引起的过氧化物酶体生物发生障碍的主要亚群。齐薇格谱系是一个临床和生化连续体，大致可分为三种临床表型。患者可在新生儿期出现严重症状，或在青春期或成年期出现轻微症状。功能性过氧化物酶体的缺陷导致几种代谢异常，在大多数情况下可以在血液和尿液中检测到。目前尚无治愈性治疗，但可提供支持性护理。本综述的重点是ZSD患者的管理，并为所有参与ZSD患者护理的人员提供支持性治疗方案的建议。
Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal biogenesis disorders caused by defects in PEX genes. The Zellweger spectrum is a clinical and biochemical continuum which can roughly be divided into three clinical phenotypes. Patients can present in the neonatal period with severe symptoms or later in life during adolescence or adulthood with only minor features. A defect of functional peroxisomes results in several metabolic abnormalities, which in most cases can be detected in blood and urine. There is currently no curative therapy, but supportive care is available. This review focuses on the management of patients with a ZSD and provides recommendations for supportive therapeutic options for all those involved in the care for ZSD patients.