PDF(Pubmed)
Abstract：
Shwachman-Diamond syndrome (SDS) is a genetic disorder caused by mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene. The syndrome is characterized by multiorgan dysfunction primarily involving the bone marrow and exocrine pancreas. Frequently overlooked is the hepatic dysfunction seen in early childhood which tends to improve by adulthood. Here, we report a child who initially presented with failure to thrive and elevated transaminases, and was ultimately diagnosed with SDS. A liver biopsy electron micrograph revealed hepatocytes crowded with numerous small mitochondria, resembling the hepatic architecture from patients with inborn errors of metabolism, including mitochondrial diseases. To our knowledge, this is the first report of the mitochondrial phenotype in an SDS patient. These findings are compelling given the recent cellular and molecular research studies which have identified SBDS as an essential regulator of mitochondrial function and have also implicated SBDS in the maintenance of mitochondrial DNA.
摘要：
Shwachman-Diamond综合征（SDS）是由Shwachman-Bodian-Diamond综合征（SBDS）基因突变引起的遗传性疾病。该综合征的特征是主要涉及骨髓和胰腺外分泌的多器官功能障碍。经常被忽视的是在儿童早期看到的肝功能障碍，到成年后往往会改善。这里,我们报告了一个孩子，最初表现为未能茁壮成长和转氨酶升高，并最终被诊断为SDS。肝活检电子显微照片显示肝细胞挤满了许多小线粒体，类似于先天性代谢错误患者的肝脏结构，包括线粒体疾病.据我们所知,这是SDS患者线粒体表型的首次报道.考虑到最近的细胞和分子研究研究，这些发现令人信服，这些研究已经确定SBDS是线粒体功能的重要调节因子，并且还涉及SBDS在线粒体DNA的维持中。
