摘要
毛发-鼻-指(趾)综合征(TRPS)是由TRPS基因突变引起的罕见的常染色体显性遗传病,其主要临床特点是头发稀疏、球状鼻、锥形骨骺及身材矮小等。本文报道了济南市中心医院收治的2例TRPS并经过长期生长激素治疗的同卵双胞胎患儿,患儿目前进入青春期,身高均得到显著改善,无骨骼畸形加重,同年TRPS嵌合体的母亲再次妊娠,胎儿基因未检测到TRPS异常。通过总结相关文献分析生长激素治疗TRPS的效果,以提高临床医师对此病的认知及诊治水平。
Trichorhinophalangeal syndrome(TRPS)is a rare autosomal dominant disorder caused by mutations in the TRPS gene,and its main clinical features are thinning hair,bulbous nose,conical epiphyses,and short stature.This article reports two case of monozygotic twins with trichorhinophalangeal syndrome treated with long-term growth hormone therapy in Jinan Central Hospital.The twins are now entering puberty normally,with significant improvement in height and no worsening of skeletal deformities.In the same year,the mother of the genetic chimera became pregnant again,and no TRPS abnormalities were detected in the fetal genes.To summarize the relevant literature and analyze the efficacy of growth hormone in the treatment of TRPS,so as to improve the diagnosis and treatment level of clinicians.
作者
孟一璠
李素静
于梦佳
王家兴
彭惠
MENG Yifan;LI Sujing;YU Mengjia;WANG Jiaxing;PENG Hui(School of Clinical Medicine,Shandong Second Medical University,Shandong Province,Weifang261053,China;Department of Childhood Health Development Center,Jinan Central Hospital,Shandong Province,Jinan250013,China)
出处
《中国医药导报》
2025年第1期192-196,F0003,共6页
China Medical Herald
作者简介
孟一璠(2000.2-),女,山东第二医科大学临床医学院儿科学专业在读硕士研究生,主要从事儿童内分泌与儿童保健研究工作;通讯作者:彭惠(1969.10-),女,博士,主任医师,主要从事儿童内分泌与儿童保健研究工作。
