A case of TSC2-PKD1 contiguous deletion syndrome: Clinical features and effective treatment for epilepsy

Polycystic kidney disease with Tuberous sclerosis is a disease caused by the deletions of the TSC2-PKD1 gene. The disease is rarely reported and the characterized manifestation is severe polycystic kidney growth. The diagnosis can be made by molecular analysis. We report the first case of PKDTS discovered in infancy in China with typical neurological and renal manifestations. The patient has infantile spasm, polycystic kidney, skin damage, hypertension, and hematuria after infection. After effective treatment of Rapamycin, the seizures were completely controlled. There was not been any renal function damage in the patient. At the same time, we review the related literature and further elaborate on the variety of clinical manifestations, treatment, and prognosis.

Automated summary

Polycystic kidney disease with Tuberous sclerosis is a rare condition characterized by severe polycystic kidney growth due to deletions of the TSC2-PKD1 gene. The first case of PKDTS found in infancy in China showed typical neurological and renal symptoms, which were effectively controlled with Rapamycin treatment. The patient did not experience any renal function damage, highlighting the importance of early diagnosis and treatment.