Nephrology

Building Your Care Team and Staying Proactive

At a Glance

Managing Bardet-Biedl syndrome (BBS) requires a multidisciplinary team of specialists, including nephrologists, ophthalmologists, and endocrinologists. Following an annual surveillance schedule for kidney, eye, and metabolic health is crucial for preventing long-term complications.

Because Bardet-Biedl Syndrome (BBS) affects multiple systems, your health depends on a team of experts working together. Building this team and maintaining a strict schedule of check-ups can help prevent complications and improve your long-term quality of life ^[1]^[2].

Your Multidisciplinary Care Team

A “multidisciplinary” team is one where specialists from different fields talk to each other to manage your health as a whole. Key members of your team should include ^[2]^[3]:

Nephrologist (Kidney Specialist): Monitors kidney structure and function, which is critical for long-term health ^[4].
Ophthalmologist (Eye Specialist): Tracks retinal changes and provides support for vision loss ^[5].
Endocrinologist: Manages weight, metabolic health, hormone levels, and fertility questions ^[6].
Geneticist / Genetic Counselor: Helps confirm the diagnosis and explains risks for other family members ^[1].
Dietitian: Provides practical strategies for managing weight and hyperphagia ^[2].
Psychologist / Mental Health Professional: Supports learning, behavior, and emotional well-being ^[7]^[8].

The Annual Surveillance Schedule

Recent 2024 consensus guidelines from the European Reference Network (ERN) emphasize that follow-up must be lifelong ^[1]. Use this checklist to ensure no system is overlooked:

System	What to Check	Frequency
Kidneys	Blood pressure, eGFR (blood test), and protein levels (urine test) ^[1]^[9].	Every 6-12 Months
Eyes	Visual acuity, visual fields, and imaging (OCT/ERG) to monitor retinal health ^[5]^[10].	Annually
Metabolic	Weight, HbA1c (blood sugar), and lipid (cholesterol) panels ^[1]^[11].	Annually
Liver	Liver function tests to monitor for Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) ^[12].	Annually
Imaging	Renal ultrasound to look for structural changes like cysts or shrinkage ^[1]^[13].	As directed (often every 1-2 years)

Managing Adult Care and Transitions

If you are transitioning from pediatric to adult care, or navigating the medical system as a newly diagnosed adult, autonomy is vital. Unlike pediatrics, adult care requires the patient to be highly independent.

The Medical Binder: Keep a comprehensive binder (physical or digital) containing:
- Genetic test results ^[1].
- Baseline and recent eGFR (kidney function) results ^[14].
- Baseline and recent ERG/OCT (vision) reports ^[5].
- Current medications and dosages ^[15].
Focus on Autonomy: Be direct with your doctors and advocate for your needs. If you are a parent of a teen, encourage them to ask the doctors questions directly to build confidence ^[2].
Adult Comorbidities: Be aware that as you age, you may face new challenges such as Type 2 diabetes or metabolic syndrome, making continued multidisciplinary monitoring even more important ^[16]^[17].

Consistent monitoring is the best tool you have to protect your health and stay proactive ^[18]^[19].

Common questions in this guide

What specialists should be on a Bardet-Biedl syndrome care team?

A comprehensive BBS care team should include a nephrologist for kidney health, an ophthalmologist for vision changes, an endocrinologist for weight and hormones, a geneticist, a dietitian, and a mental health professional. It is helpful to have one 'quarterback' physician coordinate between these specialists.

How often should I have my kidneys checked if I have BBS?

Kidney health is a critical factor for long-term well-being in BBS. You should have your blood pressure, eGFR (a kidney function blood test), and urine protein levels checked every 6 to 12 months.

What tests are included in the annual surveillance schedule for BBS?

Based on expert consensus, you should have annual exams to check visual acuity and retinal health. You also need yearly blood tests to monitor your blood sugar, cholesterol, and liver function. Routine kidney ultrasounds are generally recommended every one to two years.

What is the best way to keep track of my BBS medical records?

You should keep a comprehensive physical or digital medical binder. This binder needs to include your genetic test results, your baseline and most recent kidney (eGFR) and vision (ERG/OCT) reports, as well as a list of your current medications and dosages.

How does BBS care change when transitioning to adulthood?

As patients transition from pediatric to adult care, they must take a more independent role. This involves managing your own medical binder, asking doctors questions directly, and being proactive about monitoring for adult conditions like Type 2 diabetes.

Curated prompts to bring to your next appointment.

1.Who is the lead 'quarterback' physician on my team who will coordinate between the different specialists?
2.Can you provide a written surveillance checklist based on the 2024 ERN consensus guidelines for me to keep?
3.What are the specific signs that would require me to move an annual check-up (like kidney or vision) to a sooner date?
4.Do you have experience working with specialists who understand the complexities of adult care for BBS?

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References (19)

1
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.
Dollfus H, Lilien MR, Maffei P, et al.
European journal of human genetics : EJHG 2024; (32(11)):1347-1360 doi:10.1038/s41431-024-01634-7.
PMID: 39085583
2
Monitoring and Management of Bardet-Biedl Syndrome: What the Multi-Disciplinary Team Can Do.
Caba L, Florea L, Braha EE, et al.
Journal of multidisciplinary healthcare 2022; (15()):2153-2167 doi:10.2147/JMDH.S274739.
PMID: 36193191
3
[Ophthalmological care of patients with Bardet-Biedl syndrome].
Mahler EA, Kochs CL, Saßmannshausen M, et al.
Die Ophthalmologie 2025; doi:10.1007/s00347-025-02339-y.
PMID: 41238926
4
Renal Pathology of Ciliopathies.
Sekar T, Sebire NJ
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2024; (27(5)):411-425 doi:10.1177/10935266241242173.
PMID: 38616607
5
Ophthalmologic Manifestations in Bardet-Biedl Syndrome: Emerging Therapeutic Approaches.
Rosado A, Rodriguez E, Izquierdo N
Medicina (Kaunas, Lithuania) 2025; (61(7)) doi:10.3390/medicina61071135.
PMID: 40731764
6
Bardet-Biedl syndrome: A focus on genetics, mechanisms and metabolic dysfunction.
Tomlinson JW
Diabetes, obesity & metabolism 2024; (26 Suppl 2()):13-24 doi:10.1111/dom.15480.
PMID: 38302651
7
Psychosis as a rare neuropsychiatric manifestation of Bardet-Biedl syndrome: A case report.
Moremi S, Hubona M, Maphorisa T, Olashore AA
The Journal of international medical research 2025; (53(9)):3000605251379249 doi:10.1177/03000605251379249.
PMID: 40992902
8
Laurence-Moon-Bardet-Biedl Syndrome: A Rare Case With a Literature Review.
Kumar A, Husain A, Saleem A, et al.
Cureus 2020; (12(11)):e11355 doi:10.7759/cureus.11355.
PMID: 33304690
9
Ultrasound evaluation of kidney and liver involvement in Bardet-Biedl syndrome.
Cetiner M, Finkelberg I, Schiepek F, et al.
Orphanet journal of rare diseases 2024; (19(1)):425 doi:10.1186/s13023-024-03400-w.
PMID: 39533427
10
Ciliopathy: Bardet-Biedl Syndrome.
Tsang SH, Aycinena ARP, Sharma T
Advances in experimental medicine and biology 2018; (1085()):171-174 doi:10.1007/978-3-319-95046-4_33.
PMID: 30578506
11
Cutaneous findings in Bardet-Biedl syndrome.
Haws RM, McIntee TJ, Green CB
International journal of dermatology 2019; (58(10)):1160-1164 doi:10.1111/ijd.14412.
PMID: 30790276
12
Impact of the Melanocortin-4 Receptor Agonist Setmelanotide on MASLD and Kidney Function in Bardet-Biedl Syndrome.
Hühne T, Polichronidou IM, Finkelberg I, et al.
The Journal of clinical endocrinology and metabolism 2026; (111(3)):721-733 doi:10.1210/clinem/dgaf483.
PMID: 40903014
13
Bardet-Biedl syndrome in a 19-year-old male: the first case report from Palestine.
Karmi HB, Abu Jwaid Y, Shehadeh MH, et al.
Frontiers in pediatrics 2024; (12()):1420684 doi:10.3389/fped.2024.1420684.
PMID: 38919843
14
CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial Etiology.
Zacchia M, Secondulfo F, Melluso A, et al.
Kidney international reports 2025; (10(2)):375-385 doi:10.1016/j.ekir.2024.10.030.
PMID: 39990901
15
Patient and caregiver experiences with a patient-support program for setmelanotide treatment of patients with Bardet-Biedl syndrome.
Finkelberg I, Polichronidou IM, Hühne T, et al.
Orphanet journal of rare diseases 2025; (20(1)):290 doi:10.1186/s13023-025-03835-9.
PMID: 40484968
16
Bardet-Biedl Syndrome Presenting in Adulthood.
Ankleshwaria C, Prajapati B, Parmar S, et al.
Indian journal of nephrology 2022; (32(6)):633-636 doi:10.4103/ijn.ijn_320_21.
PMID: 36704599
17
The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population.
Mujahid S, Hunt KF, Cheah YS, et al.
The Journal of clinical endocrinology and metabolism 2018; (103(5)):1834-1841 doi:10.1210/jc.2017-01459.
PMID: 29409041
18
Bangladeshi Case Series of Bardet-Biedl Syndrome.
Osman F, Iqbal MI, Islam MN, Kabir SJ
Case reports in ophthalmological medicine 2023; (2023()):4017010 doi:10.1155/2023/4017010.
PMID: 37096247
19
Rarity of Laurence Moon Bardet Biedl Syndrome and its Poor Management in the Pakistani Population.
Khan OA, Majeed R, Saad M, et al.
Cureus 2019; (11(2)):e4114 doi:10.7759/cureus.4114.
PMID: 31058008

This guide on managing Bardet-Biedl syndrome is for informational purposes only and does not replace professional medical advice. Always consult your specialized care team to develop a personalized lifelong surveillance plan.

Get notified when new evidence is published on Bardet-Biedl syndrome.

We monitor PubMed for new peer-reviewed studies on this topic and email a short summary when something meaningful changes.

Guide Contents