Department of Internal Medicine, Kantonsspital Graubünden, Chur, Graubünden, Switzerland.
Department of Internal Medicine, Kantonsspital Graubünden, Chur, Graubünden, Switzerland
BMJ Case Rep. 2024 Sep 12;17(9):e258400. doi: 10.1136/bcr-2023-258400.
On chromosome 10q23 is found the gene, which encodes a phosphate and tension homologue. The protein dephosphorylates phosphatidylinositol-(3,4,5)-trisphosphate at the plasma membrane to produce inorganic phosphatidylinositol-(4,5)-bisphosphate. This enzymatic activity inhibits the phosphatidylinositol-3-kinase, protein kinase B and mammalian target of the rapamycin signalling cascade. Consequently, essential cellular functions, including metabolic regulation, cellular growth, proliferation and viability, are affected. A mutation in this gene gives rise to hamartoma tumour syndrome, which exhibits a range of phenotypes, including Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome and proteus-like disease. A man in his late 20s with a PTEN tumour-like arteriovenous malformation in the right thigh was recently diagnosed with lupus nephritis. The patient's nephritic symptoms, pleural effusion, dyslipidaemia and splenomegaly demonstrate systemic lupus erythematosus (SLE) multisystem involvement. The case report identifies an association between a PTEN mutation and a new diagnosis of SLE that might have been triggered by PTEN-associated immune dysregulation.
在 10q23 染色体上发现了该基因，它编码一种磷酸和张力同源物。该蛋白在质膜上将磷脂酰肌醇-(3,4,5)-三磷酸去磷酸化为无机磷脂酰肌醇-(4,5)-二磷酸。这种酶活性抑制磷脂酰肌醇-3-激酶、蛋白激酶 B 和雷帕霉素哺乳动物靶标信号级联。因此，包括代谢调节、细胞生长、增殖和存活在内的基本细胞功能受到影响。该基因的突变会导致错构瘤肿瘤综合征，表现出多种表型，包括 Bannayan-Riley-Ruvalcaba 综合征、Cowden 综合征和 Proteus 样疾病。最近，一名 20 多岁的男子被诊断出患有狼疮性肾炎，其右大腿有一个 PTEN 肿瘤样动静脉畸形。患者的肾炎症状、胸腔积液、血脂异常和脾肿大表明系统性红斑狼疮（SLE）多系统受累。该病例报告确定了 PTEN 突变与 SLE 的新诊断之间的关联，这种关联可能是由 PTEN 相关的免疫失调引发的。
