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Novel hydroxymethylbilane synthase gene mutation identified and confirmed in a woman with acute intermittent porphyria:A case report
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作者 Yu-Qing Zhou Xiao-Qing Wang +3 位作者 Jun Jiang Shu-Ling Huang Zhuo-Jin Dai Qiao-Qiong Kong 《World Journal of Clinical Cases》 SCIE 2022年第33期12319-12327,共9页
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 manifest... 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. 展开更多
关键词 Acute intermittent porphyria hydroxymethylbilane synthase gene Novel mutation Minigene assay Bioinformatics analysis Case report
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Acute Intermittent Porphyria: A Diagnostic Challenge for Endocrinologist 被引量:7
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作者 Tao Yuan Yu-Hui Li Xi Wang Feng-Ying Gong Xue-Yan Wu Yong Fu Wei-Gang Zhao 《Chinese Medical Journal》 SCIE CAS CSCD 2015年第14期1980-1981,共2页
INTRODUCTION Acute intermittent porphyria (AIP) is an autosomal dominant inborn error of metabolism caused by deficiency of porphobilinogen (PBG) deaminase, also known as hydroxymethylbilane synthase (HMBS), the... INTRODUCTION Acute intermittent porphyria (AIP) is an autosomal dominant inborn error of metabolism caused by deficiency of porphobilinogen (PBG) deaminase, also known as hydroxymethylbilane synthase (HMBS), the third enzyme in the heine biosynthetic pathway. 展开更多
关键词 Acute Intermittent Porphyria hydroxymethylbilane synthase gene Hyponatremia: Syndrome of Inappropriate Antidiuretic Hormone Secretion
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