Abstract: SA-PO0187
Progressive Polycystic Kidney Disease in an Infant with TSC2/PKD1 Contiguous Gene Syndrome
Session Information
- Tubular, Metabolic, and Systemic Noncystic Genetic Kidney Diseases
October 24, 2026 | Location: Exhibit Hall A, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- 1202 Genetic Diseases of the Kidneys: Non-Cystic (Complex and Non-Cystic Monogenic)
Authors
- Liu, Fei, Department of Nephrology, Children's Hospital, Zhejiang University School of Medicine, Hang Zhou, China
- Mao, Jianhua, Department of Nephrology, Children's Hospital, Zhejiang University School of Medicine, Hang Zhou, China
Introduction
TSC2/PKD1 contiguous gene syndrome is caused by deletions involving the TSC2 and PKD1 genes that lead to tuberous sclerosis and ADPKD. It is characterized by early-onset severe cystic kidney disease which necessitates multidisciplinary management. Herein, we report an infant case of TSC2/PKD1 contiguous gene syndrome.
Case Description
A 3-year-old boy was admitted due to abdominal distension and discomfort for 1 month. Physical examination revealed high blood pressure and scattered punctate and patchy depigmented macules over the entire body. Abdominal MRI showed multiple bilateral renal cysts. Brain CT scan revealed multiple calcified tubers. Ophthalmic examination of the retina and OCT indicated the presence of a retinal astrocytic hamartoma. Genetic testing identified a deletion at 16p13.3, involving the TSC2 gene and PKD1 gene. Amlodipine and enalapril were prescribed for blood pressure control. Sirolimus was initiated after MDT consultation.
Discussion
We report an infant with TSC2/PKD1 contiguous gene syndrome presenting with early-onset polycystic kidney lesions. Based on renal and brain imaging findings along with genetic testing results, a definitive diagnosis of TSC2/PKD1 contiguous gene deletion syndrome was established. Targeted therapies, including sirolimus and tolvaptan, have been used in patients with this kind of disease. One study suggested that early initiation of sirolimus in infancy may offer significant potential benefits in preventing renal angiomyolipoma (RAML). Additionally, a case study demonstrated that tolvaptan attenuated renal cyst enlargement. Sirolimus was introduced in this patient with TSC2/PKD1 contiguous gene syndrome who presented with rapidly enlarging renal cysts. Long-term follow-up is required to monitor disease progression and treatment efficacy.
Imaging findings of this patient