胆汁酸合成障碍,伊朗首例报告病例,(经遗传学研究证实),药物不可获得性如何影响治疗过程

IF 0.4 4区 医学 Q4 PEDIATRICS Iranian Journal of Pediatrics Pub Date : 2023-04-18 DOI:10.5812/ijp-133741
F. Mahjoub, F. Motamed, Nakisa Niknejad, F. Farahmand, F. Hadipour, Pooria Asili
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引用次数: 0

摘要

胆汁酸合成障碍是一种非常罕见的常染色体隐性遗传病,主要通过检测参与胆汁代谢的酶编码基因的突变来诊断,包括Δ4-3-oxosteroid-5β-reductase和3β-Δ5-hydroxy-C27-steroid氧化还原酶。酶损伤可导致非典型和肝毒性胆汁酸中间体的积累,在临床上导致胆汁淤积并进展为肝硬化和肝功能衰竭。在这里,我们描述了一个病例胆汁酸合成障碍诊断使用分子遗传评估。病例介绍:一名7岁女孩在生命早期就表现出发育不良。4岁时有尿路感染史。当时行超声检查,发现肾微结石。她还有腹痛、恶心和呕吐史。她接受了三次上消化道内窥镜检查,以排除乳糜泻;然而,十二指肠活检报告均正常。在5岁时检测到肌肉无力,肌电图和肌肉活检结果是非特异性的。她接受了全基因组研究,并被诊断为胆汁酸合成障碍(BASD)。6个月后,她接受了250毫克熊去氧胆酸治疗,导致生长补偿和肝酶降低。治疗期间无不良反应报告。结论:胆汁酸合成障碍是一种罕见的非特异性疾病,累及多个器官。可能需要几年的时间才能得到正确的诊断。据我们所知,这是伊朗报道的第一例胆汁酸合成障碍的遗传确诊病例。
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Bile Acid Synthesis Disorder, the First Reported Case from Iran, (Proven by Genetic Study), How the Unavailability of Drug Affected the Course of Treatment
Introduction: Bile acid synthesis disorder is a very rare autosomal recessive disorder, which is mainly diagnosed by detecting mutations in the genes encoding enzymes that are involved in bile metabolism, including Δ4-3-oxosteroid-5β-reductase and 3β-Δ5-hydroxy-C27-steroid oxidoreductase. The enzymatic impairments can result in the accumulation of atypical and hepatotoxic bile acid intermediates, which clinically lead to cholestasis and progress to cirrhosis and hepatic failure. Herein, we describe a case of bile acid synthesis disorder diagnosed using molecular genetic assessment. Case Presentation: A 7-year-old girl is presented with failure to thrive since early in life. She had a history of urinary tract infection at four years of age. The sonography was performed at that time and revealed renal microcalculi. She also had a history of abdominal pain, nausea, and vomiting. She underwent upper endoscopies three times to rule out celiac disease; nevertheless, duodenal biopsies were all reported as normal. Muscle weakness was detected at five years of age and electromyography and muscle biopsy findings were non-specific. She underwent a whole-genome study and was diagnosed with bile acid synthesis disorder (BASD). After six months, she was treated with ursodeoxycholic acid, 250 mg, which led to growth compensation and liver enzyme reduction. No adverse effect was reported during the treatment. Conclusions: Bile acid synthesis disorder is a rare disorder with non-specific features and several organ involvements. It may take several years to achieve the correct diagnosis. To our knowledge, this is the first genetically confirmed case of bile acid synthesis disorder reported in Iran.
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来源期刊
CiteScore
0.90
自引率
20.00%
发文量
75
审稿时长
6-12 weeks
期刊介绍: Iranian Journal of Pediatrics (Iran J Pediatr) is a peer-reviewed medical publication. The purpose of Iran J Pediatr is to increase knowledge, stimulate research in all fields of Pediatrics, and promote better management of pediatric patients. To achieve the goals, the journal publishes basic, biomedical, and clinical investigations on prevalent diseases relevant to pediatrics. The acceptance criteria for all papers are the quality and originality of the research and their significance to our readership. Except where otherwise stated, manuscripts are peer-reviewed by minimum three anonymous reviewers. The Editorial Board reserves the right to refuse any material for publication and advises that authors should retain copies of submitted manuscripts and correspondence as the material cannot be returned. Final acceptance or rejection rests with the Editors.
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