Netherton syndrome and SPINK5

Netherton syndrome (NS) is a severe autosomal recessive genetic disorder with a bad prognosis and high mortality.There has been no effective treatment for it so far.Some studies have found that NS is caused by mutations in the SPINK5 gene,which may lead to LEKTI defect and skin barrier dysfunction.Immunohistochemical detection of LEKTI and mutation analysis of SPINK5 gene have important implications for the diagnosis of NS.Moreover,preimplantation genetic diagnosis (PGD) is available for the prenatal screening of NS and may avoid the birth of sick infants effectively.In the past,NS was mainly managed with symptomatic treatment.With progress in the genetics of NS,some approaches have brought new hopes for NS patients,such as gene transfer,topical delivery of LEKTI bioactive fragments,immunoglobulin replacement therapy,and so on.\r\n\r\nKey words: \r\nNetherton syndrome;  SPINK5;  Mutation;  LEKTI