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PubMed This is a summary of 18 peer-reviewed journal articles Updated
Nephrology · TSC2/PKD1 Contiguous Gene Deletion Syndrome

Building Your Care Team and Preparing for Visits

At a Glance

People with TSC2/PKD1 contiguous gene deletion syndrome benefit from one lead clinician coordinating kidney, neurology, genetics, and developmental care. Bring the full genetic report, imaging, blood pressure and kidney tests, seizure records, medications, and school evaluations to specialist visits.

Navigating a diagnosis of TSC2/PKD1 contiguous gene deletion syndrome (CGS) means managing a medical journey that is more complex than either Tuberous Sclerosis Complex (TSC) or polycystic kidney disease (PKD) alone [1][2]. Because this syndrome is so rare, the quality of care depends heavily on how well your medical team communicates [3][4]. Building a “multidisciplinary team”—a group of different specialists who work together—is not just an administrative step; it is the foundation of long-term health and your own peace of mind [3][5].

The Core Care Team

Care for CGS requires a “staged” model, beginning with a core group of experts and expanding as needed through infancy, childhood, and into adulthood [3].

  • Lead Clinician: This is the “captain” of your medical team. It may be a neurologist, a nephrologist, or a clinical geneticist, but they must be responsible for coordinating the “big picture” of your care [3].
  • Nephrologist: Specialized in managing cyst growth, early hypertension, laboratory monitoring, and long-term kidney function associated with the PKD1 deletion [1][6].
  • Neurologist/Epileptologist: Focused on the TSC2 manifestations, including seizures, infantile spasms, and monitoring for brain tumors (SEGA) [7][8].
  • Clinical Geneticist and Genetic Counselor: Crucial for initial diagnosis, explaining the 16p13.3 deletion, and discussing recurrence risks and reproductive options for the future [1][9].
  • Neuropsychologist / Developmental Specialist: A specialist who screens for TAND (TSC-Associated Neuropsychiatric Disorders), ensuring that learning, behavioral, and psychiatric needs are addressed [7][10].

As care progresses, the team often expands to include a Dermatologist (for skin growths), an Ophthalmologist (for eye lesions), a Cardiologist, a Dietitian (essential when Chronic Kidney Disease is present), and a Social Worker or Care Coordinator [3][7].

The Value of Specialized Centers

Whenever possible, it is recommended to seek care at a dedicated TSC Clinic or a comprehensive specialty center [11][12].

  • Care Coordination: Centers with a multidisciplinary team may improve coordination and access to targeted treatments like mTOR inhibitors or evaluations for epilepsy surgery [13][14].
  • Resource Navigation: These centers often have case managers or transition specialists who can help bridge the gap between pediatric and adult care, reducing the “fragmented care” that families often find most stressful [3][15].
  • Remote Consultation: If a specialty center is not nearby, ask if your local doctors can establish a remote consultation or “shared care” arrangement with a national expert.

Preparing for Major Specialist Visits

Because CGS is multisystemic, specialist visits will be information-heavy. Being organized allows the doctor to spend more time discussing care and less time searching for data [1][2].

Essential Records Checklist:

  • The Full Genetic Report: Bring the original laboratory report—not just a summary letter. This should include the specific 16p13.3 coordinates and which genes/exons are deleted [1][9].
  • Imaging Data: Bring the actual image files (preferably via a secure patient portal, approved DICOM digital transfer, or CD). Specialists must see the images to measure kidney volume and compare brain lesions [1][2]. Note: Avoid repeating CT or contrast studies solely because images were unavailable, without first discussing radiation and kidney risks.
  • Kidney Health Logs: Include recent blood pressure readings, laboratory results for eGFR (kidney function), and urine protein levels [1][16].
  • Current Medications and Allergies: A complete, updated list of all medications, doses, and drug allergies.
  • Neurological History: A log of any seizure activity, copies of previous EEG reports, and your current written Seizure Action Plan [7][17].
  • School/Developmental Records: Copies of Individualized Education Programs (IEPs) or neuropsychological evaluations.

By organizing these items, you ensure the specialist has the “baseline” needed to create a tailored monitoring and treatment plan [1][18].

Common questions in this guide

Which specialists are typically part of care for TSC2/PKD1 contiguous gene deletion syndrome?
Care usually includes a lead clinician, nephrologist, neurologist or epileptologist, clinical geneticist, and genetic counselor. Neuropsychology or developmental support can address learning, behavior, and psychiatric needs, while dermatology, ophthalmology, cardiology, dietetics, and social work may be added as needed.
Who should coordinate my medical care?
A lead clinician should oversee the big picture and keep the kidney, neurology, genetics, and other teams connected. This coordinator may be a nephrologist, neurologist, or clinical geneticist, depending on the person’s main needs and local expertise.
What records should I bring to a specialist appointment?
Bring the complete genetic report, including the 16p13.3 deletion details and affected genes or exons, along with the actual imaging files. Also bring blood pressure, eGFR and urine protein results, a current medication and allergy list, seizure and EEG records, a seizure action plan, and relevant school or developmental evaluations.
Is it helpful to be seen at a TSC clinic or multidisciplinary specialty center?
A dedicated TSC clinic or comprehensive specialty center can improve communication among specialists and help families access treatments or epilepsy surgery evaluations when appropriate. These centers may also provide case managers or transition specialists, and remote or shared care may be possible when travel is difficult.
How can my local doctors work with a specialty center if I live far away?
Ask whether the teams can establish a remote consultation or shared-care arrangement. Agree on how imaging, genetic reports, laboratory results, medication changes, and urgent updates will be transferred securely and communicated.
How are medication decisions made when treatment may affect both the brain and kidneys?
The relevant specialists should discuss how a medication may affect neurological and kidney health with you or your family. Shared decision-making should include the expected benefits, possible concerns, and a plan for monitoring both systems.

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References

References (18)
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    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
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    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
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    A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report.

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

    PMID: 31039793
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    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.

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    Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group.

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    Atypical noncontiguous TSC2/PKD1 gene deletions presenting as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome.

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    American journal of medical genetics. Part A 2024; (194(12)):e63830 doi:10.1002/ajmg.a.63830.

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    "We'd have been so happy just to get a diagnosis of epilepsy": A reflexive thematic analysis of lived experiences of Tuberous Sclerosis Complex in Ireland.

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    TSC2/PKD1 Contiguous Gene Deletion Syndrome: A Case Series.

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This page is for informational purposes only and does not constitute medical advice. Your genetics, nephrology, and neurology teams should interpret your records and tailor monitoring and treatment to your situation.

Guide contents Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
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05 Surveillance Guidelines and Emergency Red Flags