MALIGNANT HYPERTENSION IN TUBEROUS SCLEROSIS: AN ASSOCIATION WITH ADULTTYPE POLYCYSTIC KIDNEY DISEASE

Objectives: Vigabatrin is the treatment of choice for Infantile Spasms (IS) in Tuberous Sclerosis Complex (TSC), however it is not available in North America. Therefore, children with IS and TSC are often treated with Adrenocorticotropic Hormone (ACTH). Hypertension is a known adverse effect of ACTH, however patients rarely develop malignant hypertension. We report 3 children with TSC who developed malignant Hypertension after receiving ACTH.

Methods: Over a 5 year period 21 children with TSC were administered ACTH after confirming the electroclinical diagnosis of Infantile Spasms. Clinic charts were retrospectively reviewed, and data was collected on diagnostic studies, and adverse events. All patients had cardiac and renal ultrasounds prior to initiation of treatment with ACTH.

Results: Renal ultrasound revealed adult-type polyscystic kidney disease (APCK) in 3 out of 21 patients. All three patients with APCK developed malignant hypertension. Genetic analysis in these three patients showed TSC2/APCK1 contiguous gene mutations on Chromosome 16. Conclusion: Our results suggest that TSC patients with adult-type polycystic kidney disease may represent a special subclinical group in whom ACTH administration may pose a particular high risk of malignant hypertension. Further studies are needed to confirm this observation.