Aljabari Salim, Howard Emily, Bell Todd, Vasylyeva Tetyana L
Department of Pediatrics, Texas Tech University Health Science Center, Amarillo, TX 79106, USA.
Case Rep Pediatr. 2013;2013:173890. doi: 10.1155/2013/173890. Epub 2013 Aug 29.
Mutation in the cytokine receptor-like factor 1 and the cardiotrophin-like cytokine (CRLF1 or CLCF1 genes) phenotypically presents as cold induced sweating syndrome (CISS), which is a rare autosomal recessive disorder. The syndrome is characterized by paradoxical sweating in cold weather, dysmorphic facial features, musculoskeletal deformities, difficulty in feeding, and unexplained recurrent episodes of high-grade fever. We are presenting the first case of CISS with urinary system anomaly, which might relate to CRLF1/CLCF1 complex role in the embryonal nephrogenesis.
细胞因子受体样因子1和心肌营养素样细胞因子(CRLF1或CLCF1基因)的突变在表型上表现为冷诱发性出汗综合征(CISS),这是一种罕见的常染色体隐性疾病。该综合征的特征是在寒冷天气下出现反常出汗、面部畸形、肌肉骨骼畸形、喂养困难以及不明原因的高热反复发作。我们报告了首例伴有泌尿系统异常的CISS病例,这可能与CRLF1/CLCF1在胚胎肾发生中的复杂作用有关。