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PubMed This is a summary of 70 peer-reviewed journal articles Updated
Nephrology · TSC2/PKD1 Contiguous Gene Deletion Syndrome

TSC2/PKD1 Contiguous Gene Deletion Syndrome: A Patient Guide

At a Glance

TSC2/PKD1 contiguous gene deletion syndrome combines tuberous sclerosis and autosomal dominant polycystic kidney disease. Because kidney problems can begin early, ongoing blood-pressure control, kidney checks, seizure monitoring, and coordinated specialist care are central to long-term health.

TSC2/PKD1 contiguous gene deletion syndrome is a rare genetic condition that occurs when a deletion of variable size removes one copy of two neighboring genes on chromosome 16. This “contiguous” or side-by-side deletion involves one copy of the TSC2 gene, which is associated with Tuberous Sclerosis Complex (TSC), and one copy of the PKD1 gene, which is associated with Autosomal Dominant Polycystic Kidney Disease (ADPKD) [1][2]. Because one copy of both genes is affected from the start, individuals with this syndrome typically experience earlier and more significant kidney involvement than those with either condition alone, often presenting with large fluid-filled cysts and high blood pressure in infancy or early childhood [3][4].

Living with this dual diagnosis requires a proactive approach that balances the needs of two complex systems from childhood into adulthood. The most critical focus in the early years is protecting kidney function by managing blood pressure and monitoring for growth-related complications through regular laboratory tests and imaging [5][1]. At the same time, the neurological aspects of the syndrome—such as managing seizures and monitoring for benign brain tumors—require regular, individualized surveillance to ensure the best developmental and health outcomes [6][7]. Beyond the physical symptoms, the syndrome can affect learning and behavior, making routine neuropsychiatric screening an essential part of comprehensive care [8][9].

This guide is designed to help you navigate this journey by explaining the genetic mechanism behind the deletion and detailing the symptoms you may encounter. We cover the standard of care for medical management, including the role of targeted therapies, and provide a clear roadmap for individualized surveillance and emergency “red flags” [5][10]. Most importantly, we provide tools to help you build a multidisciplinary care team that acts as a coordinated hub for your health [11][12]. While the path ahead involves specialized monitoring and careful coordination, understanding the biology and the available treatments empowers you to be an effective advocate for long-term well-being.

In this guide

6 chapters

01

Orientation to TSC2/PKD1 Contiguous Gene Deletion Syndrome

Learn what TSC2/PKD1 contiguous gene deletion syndrome means, including early kidney cysts, high blood pressure, seizures, monitoring, and coordinated care.

02

The Genetics of the 16p13.3 Deletion

Learn how the 16p13.3 TSC2/PKD1 deletion causes tuberous sclerosis and early kidney cysts, plus how genetic testing and inheritance guide family care needs.

03

Symptoms, Manifestations, and Progression

Learn how TSC2/PKD1 contiguous gene syndrome affects the kidneys, brain, skin, and development, including early cysts, seizures, blood pressure, and progression.

04

Standard of Care and Medical Management

Learn how TSC2/PKD1 contiguous gene deletion syndrome is managed, including blood pressure, kidney tumors, seizures, brain MRI, and transplant planning.

05

Surveillance Guidelines and Emergency Red Flags

Learn how to monitor TSC2/PKD1 contiguous gene deletion syndrome, including kidney and brain scans, seizure and TAND screening, and emergency warning signs.

06

Building Your Care Team and Preparing for Visits

Learn how to build a care team for TSC2/PKD1 contiguous gene deletion syndrome and prepare genetic, kidney, brain, seizure, and school records for visits.

Common questions in this guide

What is TSC2/PKD1 contiguous gene deletion syndrome?
It is a rare genetic condition caused by deletion of one copy each of the neighboring TSC2 and PKD1 genes on chromosome 16. Because both genes are affected, a person can have features of tuberous sclerosis complex and autosomal dominant polycystic kidney disease, often with earlier kidney involvement.
Why can kidney problems begin so early with this syndrome?
The PKD1 gene is affected from the beginning, so large kidney cysts and high blood pressure may appear in infancy or early childhood. Regular blood pressure checks, kidney blood tests, and imaging help the care team monitor kidney health.
What treatments may be used for TSC2/PKD1 deletion syndrome?
Treatment is tailored to a person’s age, symptoms, kidney function, and neurological findings. It may include blood pressure management, seizure treatment, and targeted therapies, with specialists deciding which options are appropriate.
What monitoring is usually part of care?
Care commonly includes blood pressure checks, kidney blood tests, and imaging to follow cysts and kidney-related growth complications. Neurological follow-up may address seizures and benign brain tumors, while learning and behavior screening helps identify developmental support needs.
Can TSC2/PKD1 deletion syndrome affect learning or behavior?
Yes. Learning and behavior may be affected, even when kidney problems are being managed. Routine neuropsychiatric screening can help identify support needs and guide individualized care.
How can kidney and brain specialists coordinate care?
A multidisciplinary team can connect kidney, neurological, genetics, developmental, and mental-health care. Shared communication and a clearly identified point of contact can help keep surveillance and treatment plans aligned.
How can families prepare for the transition from pediatric to adult care?
Transition planning should connect pediatric and adult kidney, neurological, and genetic services before pediatric care ends. Ask the team about a clear surveillance plan, a lead contact, and practical or emotional resources for the family.

Get notified when new evidence is published on Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis.

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References

References (12)
  1. 1

    Progressive Polycystic Kidney Disease in an Infant Girl With TSC2/PKD1 Contiguous Gene Syndrome.

    Hashimoto K, Hayashida T, Otsubo Y, et al.

    Cureus 2024; (16(8)):e67800 doi:10.7759/cureus.67800.

    PMID: 39323690
  2. 2

    Imaging features of TSC2/PKD1 contiguous gene deletion syndrome in adults.

    Bitton J, Boudhabhay I, Dariane C, et al.

    Abdominal radiology (New York) 2026; doi:10.1007/s00261-026-05768-8.

    PMID: 42696112
  3. 3

    Diagnosis and genotype-phenotype correlation in patients with PKD1/TSC2 contiguous gene deletion syndrome.

    Shang S, Mei Y, Wang T, et al.

    Clinical nephrology 2022; (97(6)):328-338 doi:10.5414/CN110476.

    PMID: 35142283
  4. 4

    Renal involvement in tuberous sclerosis complex with emphasis on cystic lesions.

    Robert A, Leroy V, Riquet A, et al.

    La Radiologia medica 2016; (121(5)):402-8 doi:10.1007/s11547-015-0572-7.

    PMID: 26219723
  5. 5

    Tuberous sclerosis complex-associated kidney disease in children.

    Marlais M, Mekahli D

    Pediatric nephrology (Berlin, Germany) 2025; (40(6)):1871-1877 doi:10.1007/s00467-024-06642-9.

    PMID: 39814976
  6. 6

    Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.

    Northrup H, Aronow ME, Bebin EM, et al.

    Pediatric neurology 2021; (123()):50-66 doi:10.1016/j.pediatrneurol.2021.07.011.

    PMID: 34399110
  7. 7

    Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes.

    De Ridder J, Verhelle B, Vervisch J, et al.

    Epilepsia 2021; (62(5)):1208-1219 doi:10.1111/epi.16892.

    PMID: 33778971
  8. 8

    TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study.

    de Vries PJ, Belousova E, Benedik MP, et al.

    Orphanet journal of rare diseases 2018; (13(1)):157 doi:10.1186/s13023-018-0901-8.

    PMID: 30201051
  9. 9

    International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND).

    de Vries PJ, Heunis TM, Vanclooster S, et al.

    Journal of neurodevelopmental disorders 2023; (15(1)):32 doi:10.1186/s11689-023-09500-1.

    PMID: 37710171
  10. 10

    Renal angiomyolipoma bleeding in a patient with TSC2/PKD1 contiguous gene syndrome after 17 years of renal replacement therapy.

    Furlano M, Barreiro Y, Martí T, et al.

    Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia 2017; (37(1)):87-92 doi:10.1016/j.nefro.2016.04.007.

    PMID: 27595512
  11. 11

    A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report.

    Auvin S, Bissler JJ, Cottin V, et al.

    Orphanet journal of rare diseases 2019; (14(1)):91 doi:10.1186/s13023-019-1072-y.

    PMID: 31039793
  12. 12

    Widespread service fragmentation for patients and families with tuberous sclerosis complex (TSC) in the Republic of Ireland.

    Vasseghi M, Behan C, Connolly A, et al.

    Journal of rare diseases (Berlin, Germany) 2024; (3(1)):24 doi:10.1007/s44162-024-00049-8.

    PMID: 39165678

This page is for informational purposes only and does not constitute medical advice. A genetics, nephrology, and neurology team should tailor blood-pressure treatment, seizure care, surveillance, and emergency planning to your or your child’s needs.