一步步揭开 1 岁男童 OBAIRH 和 DMD 诊断之谜。
Step-by-Step Double-Trouble OBAIRH and DMD Diagnosis in a One-Year-Old Boy.
机构信息
Research Centre for Medical Genetics, Moscow 115522, Russia.
State Budgetary Institution of Health of the Perm Region "Regional Children's Clinical Hospital", Perm 614066, Russia.
出版信息
Int J Mol Sci. 2023 Aug 2;24(15):12357. doi: 10.3390/ijms241512357.
We present a case of a combination of two rare hereditary disorders: obesity, adrenal insufficiency and red hair syndrome (OBAIRH) and Duchenne muscular dystrophy (DMD) in a boy. Both diseases were diagnosed during the first year of life. OBAIRH was suggested based on the ethnicity and family history of the patient, while DMD was based on an extreme increase in transaminase and CK (creatine kinase) levels during a biochemical analysis of his blood. The OBAIRH syndrome was caused by a pathogenic homozygous variant in the regulatory region of the gene (NM_001035256.3): c.-71+1G>A, while DMD was caused by the de novo deletion of exons 38-45 of the (NM_004006.3) gene (NC_000023.10:g.(?32380941)(31950285?)del).
我们报告了一例两种罕见遗传性疾病的合并病例
肥胖症、肾上腺皮质功能不全和红发综合征（OBAIRH）和杜氏肌营养不良症（DMD）在一个男孩中。两种疾病均在生命的第一年被诊断出来。OBAIRH 是基于患者的种族和家族史，而 DMD 是基于其血液生化分析中转氨酶和 CK（肌酸激酶）水平的极度升高。OBAIRH 综合征是由 基因调控区的致病性纯合变异引起的（NM_001035256.3）：c.-71+1G>A，而 DMD 是由 （NM_004006.3）基因外显子 38-45 的从头缺失引起的（NC_000023.10：g.(?32380941)(31950285?)del）。
Zotero 插件