Department of Pediatrics, UCLA Mattel Children's Hospital, Los Angeles, California.
Department of Pediatrics, UCSF Benioff Children's Hospital, San Francisco, California.
Mol Genet Genomic Med. 2019 Jul;7(7):e00725. doi: 10.1002/mgg3.725. Epub 2019 Jun 14.
Polycystic kidney disease (PKD) is an inherited condition characterized by progressive development of end-stage renal disease, hypertension, hepatic fibrosis, and cysts in the kidney, liver, pancreas, spleen, thyroid, and epididymis. While malignancies have been reported in association with PKD in adults, the incidence of malignancies in children with PKD is not currently known.
We report on five patients with a known history of PKD who developed a malignancy as children at the University of California, Los Angeles and the University of Colorado Anschutz Medical Campus. Patients were included from 2012 to 2017.
We present five patients with a history of PKD diagnosed with a malignancy during childhood without any additional known mutations to suggest a genetic predisposition to develop cancer. This includes the first reported case of hepatocellular carcinoma in a patient with autosomal recessive polycystic kidney disease.
Our report illustrates the potential that PKD may be associated with an increased risk for developing cancer, even in children. Further research is necessary to better understand this relationship.
多囊肾病（PKD）是一种遗传性疾病，其特征为肾功能逐渐恶化、高血压、肝纤维化，以及肾脏、肝脏、胰腺、脾脏、甲状腺和附睾中的囊肿。尽管成年人的 PKD 与恶性肿瘤相关已有报道，但目前尚不清楚儿童 PKD 患者恶性肿瘤的发生率。
我们报告了加利福尼亚大学洛杉矶分校和科罗拉多大学安舒茨医疗校区的五名已知 PKD 病史的患者，他们在儿童时期患上了恶性肿瘤。这些患者的纳入时间为 2012 年至 2017 年。
我们介绍了五名有 PKD 病史的患者，他们在儿童时期被诊断出患有恶性肿瘤，但没有其他已知的突变表明存在患癌症的遗传倾向。这包括首例常染色体隐性多囊肾病患者的肝细胞癌报告。
我们的报告表明，PKD 可能与癌症风险增加相关，即使是在儿童中。需要进一步的研究来更好地了解这种关系。
