Novel hydroxymethylbilane synthase gene mutation identified and confirmed in a woman with acute intermittent porphyria:A case report  

作　　者：Yu-Qing Zhou Xiao-Qing Wang Jun Jiang Shu-Ling Huang Zhuo-Jin Dai Qiao-Qiong Kong 

机构地区：[1]Department of Endocrinology,Dongguan Hospital of Traditional Chinese Medicine,Dongguan 523003,Guangdong Province,China [2]Department of Science and Technology ServicesChina Beijing Macro and Micro Test Biotech Co.Ltd,Beijing 100318,China [3]The First Clinical Medical College,Guangdong Medical University,Zhanjiang 523003,Guangdong Province,China [4]Department of Medicine,Wanjiang People's Hospital of Dongguan,Dongguan 523003,Guangdong Province,China

出　　处：《World Journal of Clinical Cases》2022年第33期12319-12327,共9页世界临床病例杂志

摘　　要：BACKGROUND Acute intermittent porphyria(AIP)is a rare autosomal dominant porphyrin metabolic disease caused by a mutation in the hydroxymethylbilane synthase(HMBS)gene.This study aimed to explore the clinical manifestations of a patient with AIP,to identify a novel HMBS gene mutation in the proband and some of her family members,and to confirm the pathogenicity of the variant.CASE SUMMARY A 22-year-old Chinese woman developed severe abdominal pain,lumbago,sinus tachycardia,epileptic seizure,hypertension,and weakness in lower limbs in March,2018.Biochemical examinations indicated hypohepatia and hyponatremia.Her last menstrual period was 45 d prior to admission,and she was unaware of the pregnancy,which was confirmed by a pregnancy test after admission.Sunlight exposure of her urine sample for 1 h turned it from yellow to wine red.Urinary porphyrin test result was positive.Based on these clinical manifestations,AIP was diagnosed.After increasing her daily glucose intake(250–300 g/d),abdominal pain was partially relieved.Three days after hospitalization,spontaneous vaginal bleeding occurred,which was confirmed as spontaneous abortion;thereafter,her clinical symptoms completely resolved.Genetic testing revealed a novel heterozygous splicing variant of the HMBS gene in exon 10(c.648_651+1delCCAGG)in the proband and four other family members.The pathogenicity of the variant was verified through bioinformatic methods and a minigene assay.CONCLUSION We identified a novel HMBS gene mutation in a Chinese patient with AIP and confirmed its pathogenicity.

关 键 词：Acute intermittent porphyria Hydroxymethylbilane synthase gene Novel mutation Minigene assay Bioinformatics analysis Case report 

分 类 号：R589.8[医药卫生—内分泌]