Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea.
Division of Medical Genetics, 3billion Inc., Seoul, South Korea.
Medicine (Baltimore). 2022 Feb 4;101(5):e28793. doi: 10.1097/MD.0000000000028793.
Pearson syndrome (PS) is a multisystem mitochondrial cytopathy arising from deletions in mitochondrial DNA. Pearson syndrome is a sporadic disease that affects the hematopoietic system, pancreas, eyes, liver, and heart and the prognosis is poor. Causes of morbidity include metabolic crisis, bone marrow dysfunction, sepsis, and liver failure in early infancy or childhood. Early diagnosis may minimize complications, but suspicion of the disease is difficult and only mitochondrial DNA gene testing can identify mutations. There is no specific treatment for PS, which remains supportive care according to symptoms; however, hematopoietic stem cell transplantation may be considered in cases of bone marrow failure.We herein describe the clinical and genetic characteristics of four patients with PS. One patient presented with hypoglycemia, two developed pancytopenia, and the final patient had hypoglycemia and acute hepatitis as the primary manifestation. All patients had lactic acidosis. Additionally, all patients showed a variety of clinical features including coagulation disorder, pancreatic, adrenal, and renal tubular insufficiencies. Two patients with pancytopenia died in their early childhood. Our experience expands the phenotypic spectrum associated with PS and its clinical understanding.
皮尔逊综合征（PS）是一种多系统的线粒体细胞病，由线粒体 DNA 缺失引起。皮尔逊综合征是一种散发性疾病，影响造血系统、胰腺、眼睛、肝脏和心脏，预后较差。发病原因包括婴儿期或儿童期早期的代谢危机、骨髓功能障碍、败血症和肝功能衰竭。早期诊断可能会最小化并发症，但对该病的怀疑很困难，只有线粒体 DNA 基因检测才能识别突变。PS 没有特定的治疗方法，仍然根据症状进行支持性治疗；然而，对于骨髓衰竭的病例，可以考虑造血干细胞移植。我们在此描述了 4 例 PS 患者的临床和遗传特征。1 例患者表现为低血糖，2 例患者出现全血细胞减少，最后 1 例患者以低血糖和急性肝炎为主要表现。所有患者均有乳酸酸中毒。此外，所有患者均表现出多种临床特征，包括凝血障碍、胰腺、肾上腺和肾小管功能不全。2 例全血细胞减少症患者在幼儿期死亡。我们的经验扩展了与 PS 相关的表型谱及其临床认识。
