Glucose-6-phosphate dehydrogenase deficiency as a cause for nonimmune hydrops fetalis and severe fetal anemia: A systematic review.

IF 1.5 4区 医学 Q4 GENETICS & HEREDITY
Neel S Iyer, Matthew H Mossayebi, Tracy J Gao, Lylach Haizler-Cohen, Daniele Di Mascio, Rodney A McLaren, Huda B Al-Kouatly
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引用次数: 0

Abstract

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disorder that predisposes individuals to hemolysis due to an inborn error of metabolism. We performed a systematic literature review to evaluate G6PD deficiency as a possible etiology of nonimmune hydrops fetalis (NIHF) and severe fetal anemia.

Methods: PubMed, OVID Medline, Scopus, and clinicaltrials.gov were queried from inception until 31 April 2023 for all published cases of NIHF and severe fetal anemia caused by G6PD deficiency. Keywords included "fetal edema," "hydrops fetalis," "glucose 6 phosphate dehydrogenase deficiency," and "fetal anemia." Cases with workup presuming G6PD deficiency as an etiology for NIHF and severe fetal anemia were included. PRISMA guidelines were followed.

Results: Five cases of G6PD-related NIHF and one case of severe fetal anemia were identified. Four fetuses (4/6, 66.7%) were male and two fetuses (2/6, 33.3%) were female. Mean gestational age at diagnosis of NIHF/anemia and delivery was 32.2 ± 4.9 and 35.7 ± 2.4 weeks, respectively. Four cases (66.7%) required a cordocentesis for fetal transfusion, and two cases (33.3%) received blood transfusions immediately following delivery. Among the four multigravida cases, two (50%) noted previous pregnancies complicated by neonatal anemia. When reported, the maternal cases included two G6PD deficiency carrier patients and two G6PD-deficient patients. Exposures to substances known to cause G6PD deficiency-related hemolysis occurred in 3/6 (50%) cases.

Conclusion: Six cases of NIHF/severe fetal anemia were associated with G6PD deficiency. While G6PD deficiency is an X-linked recessive condition, female fetuses can be affected. Fetal G6PD deficiency testing can be considered if parental history indicates, particularly if the standard workup for NIHF is negative.

葡萄糖-6-磷酸脱氢酶缺乏症是导致非免疫性胎儿水肿和严重胎儿贫血的原因之一:系统综述。
背景:葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症是一种 X 连锁隐性遗传疾病,由于先天性代谢错误,患者容易发生溶血。我们进行了一项系统性文献综述,以评估 G6PD 缺乏症作为非免疫性胎儿水肿(NIHF)和严重胎儿贫血的可能病因:方法:查询了 PubMed、OVID Medline、Scopus 和 clinicaltrials.gov,以了解从开始到 2023 年 4 月 31 日所有已发表的由 G6PD 缺乏引起的非免疫性胎儿水肿和严重胎儿贫血病例。关键词包括 "胎儿水肿"、"胎儿水肿"、"葡萄糖-6 磷酸脱氢酶缺乏 "和 "胎儿贫血"。纳入的病例均推测 G6PD 缺乏是 NIHF 和严重胎儿贫血的病因。结果结果:共发现 5 例 G6PD 相关 NIHF 和 1 例严重胎儿贫血。四个胎儿(4/6,66.7%)为男性,两个胎儿(2/6,33.3%)为女性。确诊NIHF/贫血和分娩时的平均孕周分别为(32.2 ± 4.9)周和(35.7 ± 2.4)周。四名产妇(66.7%)需要进行脐带穿刺为胎儿输血,两名产妇(33.3%)在分娩后立即接受了输血。在 4 例多胎妊娠中,有 2 例(50%)曾在怀孕时并发新生儿贫血。在报告的产妇病例中,包括两名 G6PD 缺乏症携带者和两名 G6PD 缺乏症患者。3/6(50%)的病例接触了已知会导致 G6PD 缺乏症相关溶血的物质:结论:6 例 NIHF/重度胎儿贫血与 G6PD 缺乏有关。虽然 G6PD 缺乏症是一种 X 连锁隐性遗传病,但女性胎儿也可能受到影响。如果父母病史提示,尤其是在 NIHF 的标准检查结果为阴性时,可考虑进行胎儿 G6PD 缺乏症检测。
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来源期刊
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
4.20
自引率
0.00%
发文量
241
审稿时长
14 weeks
期刊介绍: Molecular Genetics & Genomic Medicine is a peer-reviewed journal for rapid dissemination of quality research related to the dynamically developing areas of human, molecular and medical genetics. The journal publishes original research articles covering findings in phenotypic, molecular, biological, and genomic aspects of genomic variation, inherited disorders and birth defects. The broad publishing spectrum of Molecular Genetics & Genomic Medicine includes rare and common disorders from diagnosis to treatment. Examples of appropriate articles include reports of novel disease genes, functional studies of genetic variants, in-depth genotype-phenotype studies, genomic analysis of inherited disorders, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and approaches to clinical diagnosis. Molecular Genetics & Genomic Medicine provides a scientific home for next generation sequencing studies of rare and common disorders, which will make research in this fascinating area easily and rapidly accessible to the scientific community. This will serve as the basis for translating next generation sequencing studies into individualized diagnostics and therapeutics, for day-to-day medical care. Molecular Genetics & Genomic Medicine publishes original research articles, reviews, and research methods papers, along with invited editorials and commentaries. Original research papers must report well-conducted research with conclusions supported by the data presented.
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