University of South Dakota Sanford School of Medicine, Sioux Falls, South Dakota.
Avera Institute for Human Genetics, Sioux Falls, South Dakota.
S D Med. 2022 Dec;75(12):554-556.
Netherton syndrome (NS) is a rare autosomal recessive condition caused by mutations in the serine peptidase inhibitor, Kazal type 5 (SPINK5) gene which encodes for a serine protease inhibitor, lymphoepithelial Kazal-typerelated inhibitor (LEKT1). NS is characterized by a triad of ichthyosiform erythroderma, trichorrhexis invaginata, and atopic diathesis with elevated IgE levels. The syndrome typically presents in infancy, where life-threatening complications are frequent, and evolves into a less severe condition with milder clinical symptoms in adulthood. This case report details the clinical history and genetic testing of a mother and two children with clinically symptomatic and genetically proven NS.
Netherton 综合征（NS）是一种罕见的常染色体隐性遗传病，由丝氨酸蛋白酶抑制剂 Kazal 型 5（SPINK5）基因突变引起，该基因突变编码丝氨酸蛋白酶抑制剂，淋巴上皮 Kazal 型相关抑制剂（LEKT1）。NS 的特征是三联征，包括鱼鳞样红皮病、发内卷曲和特应性素质，伴有 IgE 水平升高。该综合征通常在婴儿期发病，此时危及生命的并发症很常见，随着年龄的增长，病情会发展为较轻的临床症状。本病例报告详细介绍了一位母亲和两个具有临床症状和基因证实的 NS 的儿童的临床病史和基因检测。
