首例模仿血管生长受限的舒瓦赫曼-钻石综合征胎儿病例

IF 1.3 4区 医学 Q3 PATHOLOGY
Pediatric and Developmental Pathology Pub Date : 2024-11-01 Epub Date: 2024-08-31 DOI:10.1177/10935266241272735
Nicoleta-Andreea Bobric, Julie Grevoul-Fesquet, Luc Rigonnot, Detlef Trost, Aïcha Boughalem, Jelena Martinovic
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引用次数: 0

摘要

舒瓦赫曼-钻石综合征(Shwachman-Diamond Syndrome,SDS)是一种罕见的常染色体隐性遗传病,90%的病例与染色体 7q.11.21 上的舒瓦赫曼-博迪恩-钻石综合征(Shwachman-Bodian-Diamond Syndrome,SBDS)基因的双拷贝致病变体有关。SBDS 属于核糖体病,因为 SBDS 基因编码一种参与核糖体成熟的蛋白质。它在出生后的表型特征包括生长发育迟缓、骨髓衰竭、胰腺外分泌功能不全和骨骼畸形。我们报告了首例 Shwachman-Diamond 综合征胎儿病例,并扩展了其出生前的表型。该病例的临床特征与血管生长受限、FGR 和长骨缩短相似,并伴有多普勒指数异常。在终止妊娠后进行的非限制性胎儿尸检可以进行深度表型分析,揭示胎儿骨骼发育不良的特征。胎儿病理后的三组外显子测序确定了 SBDS 基因中的双拷贝致病变异。基因型与表型的相关性证实了诊断结果,并为父母提供了充分的遗传咨询。我们的病例是胎儿尸检与胎儿病理后基因组研究相结合产生积极影响的又一例证,即使在迄今为止被归类为母体或胎儿血管灌注不良的病例中也是如此。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The First Fetal Case of Shwachman-Diamond Syndrome Mimicking Vascular Growth Restriction.

Shwachman-Diamond Syndrome (SDS) is a rare autosomal recessive genetic condition with 90% of cases associated with biallelic pathogenic variants in the Shwachman-Bodian-Diamond Syndrome (SBDS) gene on chromosome 7q.11.21. SDS belongs to ribosomopathies since SBDS gene encodes a protein involved in ribosomal maturation. Its phenotypic postnatal hallmark features include growth delay, bone marrow failure, exocrine pancreatic insufficiency, and skeletal abnormalities. We report a first fetal case of Shwachman-Diamond syndrome and extend its phenotype before birth. The clinical features mimicked vascular growth restriction with FGR and shortened long bones, associated with abnormal Doppler indices. Non-restricted fetal autopsy after termination of pregnancy allowed deep phenotyping disclosing the features of fetal skeletal dysplasia. Post-fetopathological trio exome sequencing identified biallelic pathogenic variants in the SBDS gene. Genotype-phenotype correlations confirmed the diagnosis and enabled an adequate genetic counseling of the parents. Our case is another example of the positive impact of fetal autopsy coupled with post-fetopathological genomic studies, even in the cases that were hitherto classified as maternal or fetal vascular malperfusion.

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来源期刊
CiteScore
3.70
自引率
5.30%
发文量
59
审稿时长
6-12 weeks
期刊介绍: The Journal covers the spectrum of disorders of early development (including embryology, placentology, and teratology), gestational and perinatal diseases, and all diseases of childhood. Studies may be in any field of experimental, anatomic, or clinical pathology, including molecular pathology. Case reports are published only if they provide new insights into disease mechanisms or new information.
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