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PubMed This is a summary of 15 peer-reviewed journal articles Updated
Pediatric Nephrology

Building Your Care Team: Specialists You Need

At a Glance

Managing Nephronophthisis (NPHP) requires a multidisciplinary team led by a pediatric nephrologist, alongside a pediatric ophthalmologist to monitor for related eye conditions, and a clinical geneticist. Additional specialists may be needed to manage liver or neurological symptoms.

Because Nephronophthisis (NPHP) can affect multiple systems in the body, managing it requires more than just a single doctor. Building a multidisciplinary care team—a group of specialists from different fields working together—is the most effective way to ensure your child receives comprehensive care [1][2].

The Core Specialists

For most children with NPHP, three primary specialists will form the foundation of their care:

1. Pediatric Nephrologist

The pediatric nephrologist is the lead doctor for NPHP [3]. They specialize in children’s kidney diseases and will manage your child’s blood pressure, anemia, growth, and eventually, their transition to a kidney transplant [1].

  • Role: Monitors kidney function through blood and urine tests, manages CKD complications, and coordinates the transplant process [1].

2. Pediatric Ophthalmologist (Eye Specialist)

Even if your child has no vision complaints, seeing a pediatric ophthalmologist is mandatory [4]. This is because NPHP is frequently associated with Senior-Løken syndrome, a condition where the retina (the back of the eye) slowly deteriorates [4][5].

  • Role: Performs specialized dilated eye exams to check for early signs of retinal degeneration, which can sometimes appear before kidney symptoms [5][6].

3. Clinical Geneticist

A clinical geneticist or genetic counselor is essential for confirming the exact type of NPHP your child has [7].

  • Role: Interprets complex genetic test results (like Next-Generation Sequencing) and helps the family understand the risk of the condition in siblings or future children [7][8].

Specialists for “Syndromic” NPHP

Depending on your child’s specific genetic mutation and symptoms, other specialists may join the team:

  • Hepatologist (Liver Specialist): If there are signs of liver scarring (fibrosis), a hepatologist will monitor liver function and manage complications like cholestasis (a condition where bile flow from the liver is reduced) [9][10].
  • Pediatric Neurologist: Required if a child has signs of Joubert syndrome, such as balance issues (ataxia) or developmental delays [3][11].
  • Developmental Pediatrician: Helps manage and support any intellectual or developmental challenges that can occur in certain NPHP-related syndromes [12].

Evaluating Your Team: Vetting the Experts

NPHP is a rare “orphan” disease, and not every doctor has experience with it. To ensure your child is in the right hands, consider asking potential specialists these vetting questions:

  1. “How familiar are you with ‘ciliopathies’?”: NPHP is part of this specific group of genetic disorders. An expert should be comfortable discussing how ciliary dysfunction affects multiple organs [13][14].
  2. “Have you managed patients with this specific gene mutation (e.g., NPHP1 vs. CEP290) before?”: Because each gene carries different risks for the eyes, brain, or liver, experience with your child’s specific “subtype” is highly valuable [4][15].
  3. “Do you have a formal process for multidisciplinary coordination?”: Ask how the nephrologist communicates with the ophthalmologist and other specialists. In a rare disease, “siloed” care (where doctors don’t talk to each other) can lead to missed symptoms [3][2].

By building a team that is both experienced and well-connected, you provide your child with a safety net that covers all aspects of this complex condition.

Common questions in this guide

What kind of doctor treats Nephronophthisis?
A pediatric nephrologist is the lead doctor for managing Nephronophthisis. They monitor kidney function, manage complications of chronic kidney disease, and coordinate eventual kidney transplant processes.
Why does a child with Nephronophthisis need to see an eye doctor?
Nephronophthisis is frequently linked to Senior-Løken syndrome, which causes the retina to slowly deteriorate. A pediatric ophthalmologist must perform specialized dilated eye exams to check for early signs of vision loss, even if your child currently has no vision complaints.
Do we need a geneticist if our child is already diagnosed with NPHP?
Yes, a clinical geneticist is essential to confirm the exact type of NPHP and interpret complex genetic tests. They help you understand specific risks for other organs and determine the likelihood of the condition affecting siblings or future children.
What other specialists might my child need for syndromic NPHP?
Depending on your child's specific gene mutation, they may need a hepatologist to monitor for liver scarring, a pediatric neurologist for balance issues related to Joubert syndrome, or a developmental pediatrician to support learning.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.How many other patients with Nephronophthisis or similar 'ciliopathies' do you currently manage?
  2. 2.Can you recommend a pediatric ophthalmologist who is familiar with 'retinal dystrophies' like retinitis pigmentosa?
  3. 3.Do you have a preferred geneticist or genetic counselor who can help us interpret our child's specific gene mutation (e.g., NPHP1)?
  4. 4.How will our different specialists (nephrology, ophthalmology, hepatology) communicate with each other to coordinate my child's care?
  5. 5.What is the process for eventually transitioning my child from pediatric to adult kidney care?

Questions For You

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References

References (15)
  1. 1

    Novel pathogenic MAPKBP1 variant in a family with nephronophthisis.

    Al-Hamed MH, Alzaidan H, Hussein M, et al.

    Clinical kidney journal 2021; (14(2)):728-730 doi:10.1093/ckj/sfaa090.

    PMID: 33623699
  2. 2

    Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.

    Tang X, Liu C, Liu X, et al.

    Journal of medical genetics 2022; (59(2)):147-154 doi:10.1136/jmedgenet-2020-107184.

    PMID: 33323469
  3. 3

    Joubert syndrome: a case report of neonatal presentation and early diagnosis.

    González-Gordillo CI, Orozco-Soto LE, Osegueda-Mayen JR, et al.

    Boletin medico del Hospital Infantil de Mexico 2023; (80(Supl 1)):23-27 doi:10.24875/BMHIM.22000075.

    PMID: 37490694
  4. 4

    Defective INPP5E distribution in NPHP1-related Senior-Loken syndrome.

    Ning K, Song E, Sendayen BE, et al.

    Molecular genetics & genomic medicine 2021; (9(1)):e1566 doi:10.1002/mgg3.1566.

    PMID: 33306870
  5. 5

    Presumed uremic optic neuropathy in a patient with Senior-Loken syndrome.

    Khan AO

    Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society 2023; (37(4)):310-312 doi:10.4103/sjopt.sjopt_140_23.

    PMID: 38155683
  6. 6

    Senior-Løken syndrome misdiagnosed as nephrosclerosis related to hypertensive disorders of pregnancy.

    Hirai Y, Mizumoto A, Mitsumoto K, Uzu T

    BMJ case reports 2020; (13(10)) doi:10.1136/bcr-2020-236137.

    PMID: 33109693
  7. 7

    Nephronophthisis 13 caused by WDR19 variants with pancytopenia: case report.

    Tanaka Y, Horinouchi T, Inoki Y, et al.

    CEN case reports 2024; (13(6)):474-478 doi:10.1007/s13730-024-00871-5.

    PMID: 38589766
  8. 8

    A case report of two Chinese monozygotic twins with NPHP1 gene-associated nephronophthisis undergoing kidney transplantation from a related living-donor.

    Liu Y, Qiu T, Chen Z, et al.

    Transplant immunology 2023; (78()):101828 doi:10.1016/j.trim.2023.101828.

    PMID: 36948406
  9. 9

    Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP.

    Li J, Su X, Zhang H, et al.

    Pediatric nephrology (Berlin, Germany) 2023; (38(5)):1609-1620 doi:10.1007/s00467-022-05763-3.

    PMID: 36227438
  10. 10

    Joubert Syndrome with Orofacial Digital Features.

    Bhardwaj P, Sharma M, Ahluwalia K

    Journal of neurosciences in rural practice 2018; (9(1)):152-154 doi:10.4103/jnrp.jnrp_338_17.

    PMID: 29456362
  11. 11

    Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family.

    Khan MI, Latif M, Saif M, et al.

    The journal of gene medicine 2021; (23(1)):e3279 doi:10.1002/jgm.3279.

    PMID: 32989887
  12. 12

    Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population.

    Sakakibara N, Nozu K, Yamamura T, et al.

    Journal of human genetics 2022; (67(7)):427-440 doi:10.1038/s10038-022-01020-5.

    PMID: 35140360
  13. 13

    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
  14. 14

    Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans.

    Shaheen R, Alsahli S, Ewida N, et al.

    Hepatology (Baltimore, Md.) 2020; (71(6)):2067-2079 doi:10.1002/hep.30982.

    PMID: 31595528
  15. 15

    Prospective Evaluation of Kidney Disease in Joubert Syndrome.

    Fleming LR, Doherty DA, Parisi MA, et al.

    Clinical journal of the American Society of Nephrology : CJASN 2017; (12(12)):1962-1973 doi:10.2215/CJN.05660517.

    PMID: 29146704

This page provides educational information about building a multidisciplinary care team for Nephronophthisis. It is not a substitute for professional medical advice, and you should always consult your child's doctors regarding their specific care plan.

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