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伴有泌尿系统异常的冷诱发性出汗综合征

Cold induced sweating syndrome with urinary system anomaly association.

作者信息

Aljabari Salim, Howard Emily, Bell Todd, Vasylyeva Tetyana L

机构信息

Department of Pediatrics, Texas Tech University Health Science Center, Amarillo, TX 79106, USA.

出版信息

Case Rep Pediatr. 2013;2013:173890. doi: 10.1155/2013/173890. Epub 2013 Aug 29.

Abstract

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4f7b/3773458/aa56b380a55d/CRIM.PEDIATRICS2013-173890.001.jpg

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