{"title":"新冠肺炎时代的溶酶体储存病：一例埃及α-葡萄糖苷病病例的报告和溶酶体储存病与COVID-19-19关系的总结。","authors":"Heba Saed El-Amawy, Heba Dawoud","doi":"10.1186/s43042-022-00350-5","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>We present a case of alpha-fucosidosis, a lysosomal storage disorder, from Egypt. The report also includes a brief review of the COVID-19 and lysosomal storage diseases relationship.</p><p><strong>Case presentation: </strong>A female patient aged 18 years, diagnosed with type II fucosidosis, based on the cutaneous signs, characteristic facies, and systemic symptoms, and diagnosis was confirmed using genetic analysis. The patient died from COVID-19 pneumonia during the COVID-19 pandemic after getting the infection from her father and being hospitalized.</p><p><strong>Conclusions: </strong>Patients with lysosomal storage diseases with local or systemic immune suppression may be predisposed to respiratory complications of COVID-19. Intense care with protective guidelines should be applied to those patients.</p>","PeriodicalId":74994,"journal":{"name":"The Egyptian journal of medical human genetics","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9483389/pdf/","citationCount":"1","resultStr":"{\"title\":\"Lysosomal storage diseases in the era of COVID-19: a report of an Egyptian case of alpha-fucosidosis and a summary of the lysosomal storage diseases-COVID-19 relationship.\",\"authors\":\"Heba Saed El-Amawy, Heba Dawoud\",\"doi\":\"10.1186/s43042-022-00350-5\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>We present a case of alpha-fucosidosis, a lysosomal storage disorder, from Egypt. The report also includes a brief review of the COVID-19 and lysosomal storage diseases relationship.</p><p><strong>Case presentation: </strong>A female patient aged 18 years, diagnosed with type II fucosidosis, based on the cutaneous signs, characteristic facies, and systemic symptoms, and diagnosis was confirmed using genetic analysis. The patient died from COVID-19 pneumonia during the COVID-19 pandemic after getting the infection from her father and being hospitalized.</p><p><strong>Conclusions: </strong>Patients with lysosomal storage diseases with local or systemic immune suppression may be predisposed to respiratory complications of COVID-19. Intense care with protective guidelines should be applied to those patients.</p>\",\"PeriodicalId\":74994,\"journal\":{\"name\":\"The Egyptian journal of medical human genetics\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9483389/pdf/\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"The Egyptian journal of medical human genetics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1186/s43042-022-00350-5\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2022/9/15 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"The Egyptian journal of medical human genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1186/s43042-022-00350-5","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2022/9/15 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
Lysosomal storage diseases in the era of COVID-19: a report of an Egyptian case of alpha-fucosidosis and a summary of the lysosomal storage diseases-COVID-19 relationship.
Background: We present a case of alpha-fucosidosis, a lysosomal storage disorder, from Egypt. The report also includes a brief review of the COVID-19 and lysosomal storage diseases relationship.
Case presentation: A female patient aged 18 years, diagnosed with type II fucosidosis, based on the cutaneous signs, characteristic facies, and systemic symptoms, and diagnosis was confirmed using genetic analysis. The patient died from COVID-19 pneumonia during the COVID-19 pandemic after getting the infection from her father and being hospitalized.
Conclusions: Patients with lysosomal storage diseases with local or systemic immune suppression may be predisposed to respiratory complications of COVID-19. Intense care with protective guidelines should be applied to those patients.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
