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

BMJ Case Rep

September 2024

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

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.
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Article Synopsis
  • Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic condition linked to the PTEN gene, characterized by overgrowth and significant variability in symptoms.
  • A systematic review of 83 pediatric cases revealed that common symptoms include macrocephaly and developmental disorders, with surgery being the primary treatment approach.
  • Early identification and referral to a geneticist are crucial for managing BRRS, as current treatment options are limited, focusing mainly on symptom relief and long-term monitoring for cancer risk.
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Article Synopsis
  • PTEN Hamartoma Tumour Syndrome (PHTS) includes various disorders like Cowden syndrome (CS), influenced by germline variants in the PTEN gene that lead to uncontrolled tissue growth.
  • Cowden syndrome is the most common but still rare with an incidence of 1:200,000, and its specific impact and frequency are not well-documented across research.
  • The review stresses the importance of early diagnosis for CS, which can extend patient lifespan and improve outcomes through continuous support from a multidisciplinary team.
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