期刊
JOURNAL OF CLINICAL MEDICINE
卷 10, 期 21, 页码 -出版社
MDPI
DOI: 10.3390/jcm10214890
关键词
Gaucher disease; NIHF; perinatal-lethal Gaucher disease; PLGD; ichthyosis; GBA gene
Accurate and prompt genetic diagnosis is crucial in providing families with appropriate prevention and treatment for the lethal form of Gaucher disease, drawing attention to its specific manifestations and potential management.
With a growing number of proved therapies and clinical trials for many lysosomal storage disorders (LSDs), a lot of hope for many patients and families exists. However, there are sometimes cases with poor prognosis, fatal outcomes when our efforts must be directed towards a prompt and correct genetic diagnosis, which offers the only possibility of providing the family with appropriate prevention and treatment. To address this issue, in this article, we present the clinical and genetic hallmarks of the lethal form of Gaucher disease (PLGD) and discuss the potential management. We hope that this will draw attention to its specific manifestations (such as collodion-baby phenotype, ichthyosis, arthrogryposis), which differ from best-known GD complications and ensure appropriate diagnostic assessment to provide families at risk with reliable counselling and treatment to avoid the medical complication of GD.
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