Tolvaptan use in a patient with TSC2 - PKD1 contiguous gene deletion syndrome – a case report
Osasuyi Iyasere,
Yusuf Jinadu,
Emily Craft
Abstract:The TSC2 gene is contiguous to the PKD1 gene on chromosome 16. A large deletion in this region is associated with a clinical phenotype involving features of tuberous sclerosis and polycystic kidney disease (TSC-PKD CGD). While Tolvaptan use in patients with autosomal dominant polycystic kidney disease is well established, it is less so in those TSC-PKD CGD syndrome. Here, we report a case of Tolvaptan use in a 23 year old woman diagnosed with TSC - PKD CGD using micro-array testing. She had a known diagnosis o… Show more
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