Severe lupus nephritis in a young adult with PTEN hamartoma tumour syndrome.

BMJ Case Rep

Department of Internal Medicine, Kantonsspital Graubünden, Chur, Graubünden, Switzerland

Published: September 2024

AI Article Synopsis

  • * Mutations in this gene are linked to hamartoma tumor syndrome, leading to various disorders, including Bannayan-Riley-Ruvalcaba and Cowden syndromes.
  • * A recent case study describes a man in his late 20s with a PTEN mutation, who developed lupus nephritis, indicating a possible connection between the mutation and immune system dysregulation.

Article Abstract

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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11404168PMC
http://dx.doi.org/10.1136/bcr-2023-258400DOI Listing

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