Papillorenal Syndrome (PRS)

Papillorenal Syndrome (PRS) (also called Renal-Coloboma Syndrome or PAX2-related disorder) is a rare genetic condition that mainly affects the kidneys and the eyes. Most people with PRS are born with kidneys that are smaller and under-developed (doctors call this renal hypodysplasia). This can reduce kidney function over time and may lead to chronic kidney disease in childhood or adulthood. The “papillo-” part of the name refers to the optic nerve head (optic disc) in the eye. Many people with PRS have an abnormal optic nerve—sometimes a true “coloboma” (a gap or missing piece of tissue) and sometimes an optic nerve that developed under-sized or structurally different. Vision can be normal, mildly reduced, or more significantly affected, depending on how the optic nerve formed. PRS is most often caused by a harmful change (variant) in a gene called PAX2, which provides instructions that guide how the kidneys, eyes, ears, and parts of the nervous system develop before birth. PRS is usually autosomal dominant, meaning one altered copy of the gene can cause the condition; some people inherit it from an affected parent while others have a new (de novo) variant. Expressivity is variable: even within one family, some relatives may have kidney findings only, others eye findings only, and others both. NCBI+1MedlinePlus+1

Papillorenal syndrome is a rare genetic condition that mainly affects the kidneys and the optic nerve in the eyes. The kidneys may be small or under-developed from birth, and the optic nerve head may look abnormally shaped or poorly formed (sometimes “coloboma-like” or “dysplastic”). The condition is most often caused by a change (variant) in a gene called PAX2, which guides early development of the kidneys and eyes before birth. The condition is usually autosomal dominant, which means a person only needs one changed copy of the gene to be affected, and it can pass from an affected parent to a child. Severity varies a lot, even within the same family. Some people have mild findings and normal life, and others have serious kidney problems that can lead to chronic kidney disease or even kidney failure later in life. NCBIMedlinePlusEyeWiki

Doctors also use the broader label “PAX2-related disorder” because changes in the PAX2 gene can produce a spectrum of problems: classic papillorenal syndrome (kidney + optic nerve), kidney-only disease, eye-only disease, and in some families a form of hereditary focal segmental glomerulosclerosis (FSGS type 7). This spectrum idea helps explain why two people with the same gene change can look very different. NCBINature

It is rare, and the exact frequency is unknown. In many people who look clinically typical, a PAX2 variant can be found; in others, no PAX2 change is identified using routine tests, which tells us there are still things we do not fully understand about this disease. PubMedGenetic Rare Diseases Center

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Why it happens

The PAX2 gene acts like a master building plan that switches on other genes during the very early construction of the kidney and optic nerve. If one copy of this gene is changed, the kidney’s tiny filtering units may form in lower number or abnormal shape (called renal hypodysplasia), and the optic nerve head may develop abnormally (optic nerve dysplasia/coloboma-like change). Over time, kidneys that start with fewer or abnormal filtering units have to work harder, which can lead to high blood pressure, protein leak in the urine, scarring, and declining kidney function. Some children also have vesicoureteral reflux (urine washing backward from the bladder toward the kidneys), which adds extra stress and risk of infection. Eye effects range from normal vision to a large blind spot, reduced sharpness, or visual field loss, depending on how the optic nerve is shaped. NCBIFrontiersKarger

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Types

When doctors say “types,” they usually mean patterns they see in the clinic, not separate diseases. Here are practical “types” that help with thinking and planning:

1. Classic Papillorenal Syndrome (eye + kidney)
   This is the textbook pattern: kidney hypodysplasia (small kidneys, fewer nephrons) plus optic nerve head anomalies. Severity ranges widely. MedlinePlusEyeWiki

2. Kidney-predominant PAX2-related disorder
   Some people have kidney problems without obvious eye symptoms. They may show protein in urine, high blood pressure, or gradually falling kidney function. NCBI

3. Eye-predominant PAX2-related disorder
   Some people mainly show optic nerve head abnormalities and only mild or late kidney changes. Routine kidney checks are still important even if vision is the main issue. NCBI

4. PAX2-related FSGS (FSGS type 7)
   A small group develops a scarring kidney disease called FSGS, sometimes without the classic small-kidney appearance, but still linked to PAX2. Nature

5. Unilateral vs. bilateral involvement
   One kidney or one eye may be more affected than the other, or both sides can be involved. Bilateral disease tends to cause more symptoms over time. EyeWiki

6. Congenital presentation vs. later detection
   Findings may be seen before birth or in infancy (for example, small echogenic kidneys on prenatal ultrasound), or first noticed in later childhood or adulthood when high blood pressure or abnormal urine tests are picked up. NCBI

7. Mild, moderate, or severe clinical course
   Some individuals only need monitoring; others need blood pressure control or UTI prevention; a few progress to kidney failure and need dialysis or transplant. Eyes can likewise be mild or visually significant. MedlinePlus

8. Familial vs. de novo
   The condition can be inherited from an affected parent, or it can be de novo (a new change in the child). Family screening matters in either case. NCBI

9. With extra-renal features
   Some patients have vesicoureteral reflux, urinary tract infections, hearing changes, or joint laxity. These are not universal but have been reported. Genetic Rare Diseases Center

10. Molecular subtype
    On genetic testing, the PAX2 change can be missense, nonsense, frameshift, splice, or a deletion/duplication (copy-number) event. The lab report will name the exact change. NCBI

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Causes

Important note: The core cause of papillorenal syndrome is a pathogenic variant in the PAX2 gene. The list below breaks that single cause into practical, real-world categories you may see in reports or clinic notes, and it also includes known contributors that shape the final clinical picture (for example, reflux or scarring) even though they are not the root genetic cause. This makes it easier to understand “why this person looks this way.”

1. PAX2 missense variant
   A single “letter swap” in the gene changes one amino acid in the PAX2 protein and can disturb its job in early kidney and eye development. NCBI

2. PAX2 nonsense variant
   A “stop” signal appears too early, making a short, non-working protein. This often has bigger effects. NCBI

3. PAX2 frameshift variant
   A letter is inserted or deleted, shifting the “reading frame” and producing a faulty protein. NCBI

4. PAX2 splice-site variant
   The gene’s cut-and-paste steps during RNA processing go wrong, so the protein is incomplete or misbuilt. NCBI

5. PAX2 whole-gene deletion
   A copy of the entire PAX2 gene is missing. With only one working copy left, development is affected. NCBI

6. PAX2 partial deletion or duplication (copy-number change)
   Only part of the gene is missing or duplicated; this can still break function. Special tests (CNV analysis) catch this. NCBI

7. De novo PAX2 variant
   The variant arose in the child and is not present in either parent, so there was no family history. NCBI

8. Germline mosaicism in a parent (rare)
   A parent may have the variant in some egg or sperm cells but not in blood, so routine testing looks negative while the child is affected. NCBI

9. Regulatory (non-coding) PAX2 variants
   Changes near the gene can alter when and where PAX2 turns on, still disturbing organ development. These can be harder to detect on standard panels. PMC

10. Larger structural DNA changes that disrupt PAX2
    A chunk of chromosome 10 that includes or affects PAX2 can be rearranged or deleted, disturbing gene function. Microarray or genome sequencing may be needed. NCBI

11. Unknown genetic cause with a classic clinical picture
    Some people look typical for papillorenal syndrome, yet no PAX2 variant is found with standard tests; this likely reflects limits of current testing or other genes not yet confirmed. PubMedGenetic Rare Diseases Center

12. Modifier genes that change severity
    Other kidney-development genes may influence how severe the disease looks even when PAX2 is the main driver. This helps explain different outcomes in one family. PMC

13. FSGS pathway involvement in some families
    In a minority, PAX2 changes are linked with scarring of kidney filters (FSGS), which can dominate the picture. Nature

14. Vesicoureteral reflux (VUR) as a downstream effect
    Abnormal development can cause urine to reflux backward, which accelerates kidney damage through infections and pressure. This is not the root cause but worsens disease. Karger

15. Recurrent urinary tract infections (UTIs) due to reflux
    Repeated infections further injure delicate kidney tissue over time. Again, this is a consequence that becomes a “cause” of progression. Karger

16. Hypertension driven by reduced nephron number
    Fewer nephrons raise intrarenal pressure and blood pressure, which then speeds up kidney scarring. Karger

17. Proteinuria (albumin leak) as a damage amplifier
    Leaking protein into urine reflects filter injury and also harms kidney tubules, driving decline. Karger

18. Uric acid kidney stones in some patients
    Stone formation adds obstruction and inflammation, worsening kidney function if not treated. MalaCards

19. Hearing pathway involvement (less common)
    PAX2-related changes can sometimes involve hearing, which signals broader developmental effects from the same gene change. Genetic Rare Diseases Center

20. Environmental stresses that unmask limited kidney reserve
    Dehydration, certain medications that stress kidneys, and severe infections can expose the limited reserve in hypoplastic kidneys, leading to sudden dips in function. (General kidney physiology principle applied to PAX2-related small kidneys.) NCBI

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Common Symptoms and Signs

Not everyone has all of these, and some people feel fine for years. These are the symptoms and signs doctors look for and ask about:

1. Vision that is not as sharp as expected
   Some people notice blurry vision, especially when reading fine print, because the optic nerve head is not perfectly formed. MedlinePlus

2. A larger blind spot
   Even with normal central vision, the “physiologic” blind spot can be unusually large, which is classic in this condition. EyeWiki

3. Trouble with side vision (visual field gaps)
   Some patients report bumping into things on one side or missing parts of the scene. EyeWiki

4. Light sensitivity or glare
   Optic nerve and retinal shape changes can make bright light uncomfortable. EyeWiki

5. Wandering eye or misalignment (strabismus)
   Eye misalignment may appear in childhood because the vision pathway developed differently. EyeWiki

6. Nystagmus (small, rhythmic eye movements)
   When the optic nerve is under-developed, the brain may not stabilize gaze well, causing eye “wobble.” EyeWiki

7. Frequent urinary infections (especially in children)
   This happens when urine refluxes backward and bacteria reach the kidney. Genetic Rare Diseases Center

8. High blood pressure
   Smaller or scarred kidneys often cause elevated blood pressure, which needs treatment to protect kidney function. Karger

9. Protein in the urine (sometimes foamy urine)
   Protein leak is common as kidney filters are strained or scarred. Karger

10. Swelling of feet or around the eyes
    Fluid may build up when kidney function falls or protein loss is heavy. MedlinePlus

11. Tiredness and low energy
    Anemia, uremic toxins, or poor sleep from high blood pressure can make people feel worn out. MedlinePlus

12. Poor growth in some children
    Long-term kidney disease can slow growth unless carefully managed. MedlinePlus

13. Hearing difficulty (usually mild, not in everyone)
    Some people notice trouble hearing high-pitched sounds. Genetic Rare Diseases Center

14. Kidney stones (pain, blood in urine) in a subset
    Uric acid stones can occur and cause colicky pain or hematuria. MalaCards

15. Completely no symptoms at first
    Many people feel fine until a routine exam finds high blood pressure, protein in urine, or eye changes on a careful exam. MedlinePlus

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Diagnostic Tests

Doctors choose tests based on age, symptoms, and family history. The goal is to confirm the diagnosis, measure kidney and eye health, look for complications, and guide treatment.

A) Physical Exam

1. Blood pressure measurement
   High blood pressure is common when kidney reserve is low, so it is always checked, often repeatedly over time. Karger

2. Growth and body measurements (children)
   Height, weight, and growth curves show whether chronic kidney disease is affecting development. MedlinePlus

3. General eye inspection and visual acuity chart
   Simple office tools (eye chart, pinhole) quickly show if sharpness of vision is normal or reduced. EyeWiki

4. General exam for swelling and signs of fluid overload
   Puffy eyelids, ankle swelling, and lung sounds can signal kidney-related fluid issues. MedlinePlus

B) Manual Tests

5. Direct ophthalmoscopy or dilated fundus exam
   The clinician looks directly at the optic nerve head to see its shape, color, and any “coloboma-like” excavation. EyeWiki

6. Confrontation visual field testing
   A quick bedside check maps basic side vision and can show blind-spot enlargement or sector losses. EyeWiki

7. Cover–uncover test for eye alignment
   This simple maneuver detects strabismus that sometimes co-exists with optic nerve anomalies. EyeWiki

C) Laboratory & Pathology

8. Urinalysis with urine albumin-to-creatinine ratio
   Looks for protein, blood, and other markers of kidney filter injury; the albumin ratio quantifies leak. Karger

9. Serum creatinine and estimated GFR (± cystatin C)
   Measures overall kidney function and tracks trends over time. MedlinePlus

10. Electrolytes, bicarbonate, and acid–base panel
    Chronic kidney disease affects salt balance and blood acidity; these labs guide treatment. MedlinePlus

11. Urine culture when infections are suspected
    Repeated UTIs suggest reflux or bladder dysfunction needing targeted care. Genetic Rare Diseases Center

12. Lipid profile and hemoglobin (anemia check)
    Kidney disease can raise lipids and lower hemoglobin; both are manageable if detected. MedlinePlus

13. Molecular genetic testing for PAX2
    Sequencing plus deletion/duplication analysis looks for PAX2 variants and confirms a PAX2-related disorder; results also guide family testing and counseling. NCBI

D) Electrodiagnostic

14. Visual Evoked Potentials (VEP)
    Measures how fast and how well the brain’s visual pathways respond to patterns of light, helping quantify optic nerve function. EyeWiki

15. Electroretinography (ERG)
    Tests the retina’s electrical response; it can be helpful when eye structure is unusual and visual performance needs objective measurement. EyeWiki

16. Auditory Brainstem Response (ABR) when hearing issues are suspected
    Checks hearing pathway function without needing active responses, useful in children. Genetic Rare Diseases Center

E) Imaging

17. Renal ultrasound
    First-line, painless imaging to see kidney size, structure, and scarring; small or echogenic kidneys point toward hypodysplasia. Radiopaedia

18. Voiding cystourethrogram (VCUG) when reflux is suspected
    Shows whether urine flows backward from the bladder to the kidneys; this guides prevention of infections and scarring. Karger

19. Nuclear renography (DMSA or MAG3)
    Assesses kidney function split between the two sides and looks for scars after infections or reflux. Radiopaedia

20. Ocular imaging: fundus photography and OCT of the optic nerve
    High-detail pictures document the optic disc shape and nerve fiber layer, making it easier to follow changes over time. EyeWiki

Non-pharmacological treatments

1. Genetic counseling for the family – explains inheritance (usually autosomal dominant), recurrence risks, and options like prenatal or preimplantation testing. Purpose: informed decisions; Mechanism: education + targeted testing. NCBI

2. Regular kidney and eye surveillance – scheduled visits catch BP rise, proteinuria, or vision changes early. Mechanism: early detection prevents damage. Orpha.net

3. Low-vision rehabilitation – glasses, magnifiers, classroom tech, orientation & mobility training. Purpose: maximize usable vision; Mechanism: optical and skills-based compensation. AAPOSCleveland Clinic

4. Amblyopia therapy when appropriate – patching/atropine only if vision potential exists. Mechanism: retrains visual cortex to use the weaker eye. American Academy of OphthalmologyPMC

5. Strabismus evaluation and exercises – improves alignment and comfort; sometimes pre-surgical. Mechanism: optimize binocular function. American Academy of Ophthalmology

6. Bladder–bowel dysfunction (BBD) management – timed voiding, hydration schedules, constipation control to reduce UTIs and reflux stress. Mechanism: lowers bladder pressure/urine stasis. AUA

7. Nutrition therapy tailored to CKD stage – adequate calories for growth, protein adjusted to stage, mindful of sodium/potassium/phosphorus as labs dictate. Mechanism: slows CKD, supports growth. PMCPubMed

8. Home blood pressure monitoring – empowers families to catch trends early. Mechanism: data-driven titration to guideline targets. KDIGO

9. Activity and fitness – regular age-appropriate exercise improves BP, mood, and bone health. Mechanism: cardio-metabolic benefits in CKD. KDIGO

10. Sick-day rules – temporarily hold certain meds and increase fluids during vomiting/diarrhea (only per clinician plan). Mechanism: protects kidneys from acute hits. KDIGO

11. Avoidance of nephrotoxic NSAIDs and risky herbal products – safer pain plans and awareness of harmful supplements. Mechanism: prevents toxic kidney injury. KDIGO

12. School/IEP accommodations – seating, large-print materials, extended test time for visual issues. Mechanism: accessibility boosts learning. AAPOS

13. Sun/lighting adjustments for glare – hats, filters, controlled lighting if glare sensitivity exists. Mechanism: reduces visual discomfort.

14. Hydration planning – steady fluids to avoid dehydration, tailored to heart/kidney status. Mechanism: protects remaining nephrons.

15. UTI prevention hygiene – front-to-back wiping, prompt voiding after holding, addressing constipation. Mechanism: reduces infection risk. NCBI

16. Vaccination up to date (inactivated vaccines) – protects against infections that can worsen kidneys; clinicians schedule these. Mechanism: reduces illness burden. KDIGO

17. Family screening – eye exam, urinalysis, BP, and targeted PAX2 testing in at-risk relatives. Mechanism: earlier diagnosis → earlier protection. NCBI

18. Transition planning (peds→adult nephrology/ophthalmology) – smooth handoff in late teens. Mechanism: prevents care gaps. KDIGO

19. Telehealth and home tech – remote BP, weight, and symptom check-ins can improve follow-up. Mechanism: continuous monitoring. KDIGO

20. Psychosocial support – counseling and peer groups for chronic disease coping. Mechanism: reduces stress, improves adherence. KDIGO

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Core drug treatments

Doses below are typical starting points; actual dosing, timing, and suitability depend on age, kidney function, and clinician judgment.

1. ACE inhibitor (e.g., enalapril) – Purpose: control BP and reduce proteinuria; Mechanism: blocks RAAS to lower intraglomerular pressure; Typical dose: pediatrics and adults titrated carefully; Side effects: cough, high potassium, kidney function dip after starting; Why in PRS: slows CKD progression when albuminuria is present. KDIGOKidney International

2. ARB (e.g., losartan) – alternative if ACE-inhibitor cough; similar kidney-protective effect; watch potassium/creatinine. KDIGO

3. SGLT2 inhibitor (e.g., dapagliflozin/empagliflozin in eligible adults) – Purpose: additional kidney protection in CKD with albuminuria (even without diabetes in many adults); Mechanism: lowers tubular glucose/sodium reabsorption, reduces hyperfiltration; Side effects: genital yeast infections, volume depletion; Age note: data are mainly adult; pediatric use is evolving. KDIGO

4. Loop diuretic (e.g., furosemide) – Purpose: edema and BP control with salt/water retention; Mechanism: blocks Na-K-2Cl transporter in loop of Henle; Cautions: dehydration, low K/Mg.

5. Antimicrobial prophylaxis for recurrent UTI/VUR (e.g., trimethoprim–sulfamethoxazole or nitrofurantoin) – Purpose: reduce febrile UTIs while anatomy matures or until surgery; Mechanism: suppressive low-dose antibacterial activity; Cautions: drug allergies, resistance, age-specific contraindications. NCBIAUA

6. Erythropoiesis-stimulating agent (ESA; e.g., epoetin alfa or darbepoetin) – Purpose: treat CKD-related anemia after iron repletion; Mechanism: stimulates red blood cell production; Cautions: hypertension, thrombosis if over-corrected; Dosing: weight- and Hb-guided. KDIGO

7. Iron therapy (oral or IV) – Purpose: correct iron deficiency that limits response to ESA; Mechanism: supplies iron for hemoglobin; Cautions: GI upset (oral), allergic reactions (IV). KDIGO

8. Active vitamin D analog (e.g., calcitriol) – Purpose: manage secondary hyperparathyroidism in CKD; Mechanism: suppresses PTH; Cautions: high calcium/phosphate; dosing individualized. KDIGO

9. Phosphate binder (e.g., sevelamer or calcium carbonate) – Purpose: control phosphate when diet alone is not enough; Mechanism: binds phosphate in gut; Cautions: calcium load (with calcium-based binders), GI upset. KDIGO

10. Oral sodium bicarbonate – Purpose: correct metabolic acidosis in CKD; Mechanism: buffers acid; Cautions: sodium load, BP/edema; dose guided by bicarbonate level. KDIGO

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Dietary “molecular” supplements

Always clear supplements with the care team—some products can hurt kidneys or interact with medicines.

1. Vitamin D3 (cholecalciferol) – Dose: commonly 800–2000 IU/day in deficiency prevention (individualized); Function: bone/immune health; Mechanism: raises 25-OH-D to support bone and, with active vitamin D when needed, helps mineral balance in CKD. PMC

2. Oral iron (e.g., ferrous sulfate providing 45–65 mg elemental iron/day; pediatric dosing by weight) – Function: supports hemoglobin; Mechanism: replaces iron stores depleted in CKD anemia. KDIGO

3. Folic acid (0.4–1 mg/day, higher only if prescribed) – Function: red cell production support; Mechanism: cofactor in DNA synthesis.

4. Vitamin B12 (oral 250–1000 mcg/day if low) – Function: red cell and nerve health; Mechanism: cofactor for RBC synthesis.

5. B-complex renal multivitamin (kidney-safe doses) – Function: replaces water-soluble vitamins lost or restricted; Mechanism: prevents deficiency with CKD diets/dialysis.

6. Omega-3 fatty acids (EPA+DHA 1–2 g/day in adults) – Function: triglyceride lowering and possible anti-inflammatory benefit; Mechanism: membrane lipid effects and cytokine modulation.

7. Probiotics (≥10^9 CFU/day strains used in studies) – Function: may reduce some gut-derived uremic toxins and improve bowel regularity; Mechanism: microbiome modulation (evidence evolving).

8. L-carnitine (doses vary; often dialysis-directed) – Function: may help dialysis-related fatigue in selected patients; Mechanism: mitochondrial fatty-acid shuttle (evidence mixed).

9. Coenzyme Q10 (100–200 mg/day) – Function: antioxidant support; Mechanism: electron transport chain cofactor; data limited—use only with clinician approval.

10. Renal-safe fiber (psyllium) – Function: constipation control to reduce BBD/UTIs; Mechanism: bulking laxative improves stooling and bladder function.

Avoid unproven or risky “kidney detox” herbs. KDIGO highlights many supplements with nephrotoxicity reports—ask before taking any new product. KDIGO

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Regenerative-/stem-cell–related” therapies

1. Vaccination (influenza, pneumococcal, hepatitis B, etc.) – Function: “boosts” protection by preparing the immune system; Mechanism: memory immune response; Note: essential in CKD; schedules are clinician-guided. KDIGO

2. Erythropoiesis-stimulating agents (ESAs) – not immune boosters, but regenerate red cells and relieve anemia-related fatigue; dosing and targets per KDIGO anemia guidance. KDIGO

3. Recombinant human growth hormone (rhGH) – for selected children with CKD-related growth failure; Mechanism: promotes linear growth; specialist-directed. KDIGO

4. HIF-prolyl hydroxylase inhibitors (e.g., roxadustat; availability varies) – Mechanism: stimulates endogenous EPO production; considered in some regions when ESAs are unsuitable; clinician-supervised per evolving guidelines. KDIGO

5. Mesenchymal stromal/stem cell (MSC) therapy – Experimental. Early trials in CKD (and diabetic kidney disease) suggest safety and potential anti-inflammatory/anti-fibrotic effects, but no standard approved dosing for PRS; access is via clinical trials. PMCLippincott

6. MSC-derived extracellular vesicles / future gene-targeted approaches – Experimental. Preclinical/early human signals are emerging; not standard care; only in trials. PMCFrontiers

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Surgeries/procedures

1. Endoscopic injection for VUR (e.g., dextranomer–hyaluronic acid “bulking” agent) – Why: for recurrent febrile UTIs or scarring despite medical therapy; Procedure: brief cystoscopic injection to reduce reflux. PMC

2. Ureteral reimplantation – Why: durable fix for high-grade or breakthrough VUR; Procedure: surgically creates a longer anti-reflux tunnel. AUA

3. Dialysis access creation – Why: needed if kidneys fail (peritoneal dialysis catheter or arteriovenous fistula).

4. Kidney transplantation – Why: best long-term replacement for kidney failure; Procedure: donor kidney is placed in the pelvis with new connections for blood flow and urine drainage. KDIGO

5. Strabismus surgery (selected cases) – Why: to improve eye alignment and binocular comfort where helpful (does not fix the optic nerve itself). American Academy of Ophthalmology

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Prevention strategies

1. Know the diagnosis early (genetic testing where appropriate) and set up kidney/eye follow-up. NCBI

2. Control blood pressure to guideline targets. Kidney International

3. Treat proteinuria (ACEi/ARB ± SGLT2i in eligible adults) to slow scarring. KDIGO

4. Prevent UTIs and manage BBD (timed voids, constipation care). AUA

5. Hydrate sensibly—avoid dehydration; follow individualized fluid plans.

6. Avoid nephrotoxins (certain painkillers, contrast, “detox” herbs) unless the care team says they’re safe. KDIGO

7. Healthy CKD-appropriate diet with professional guidance. PMC

8. Vaccinations up to date to reduce infections that can tip kidneys over. KDIGO

9. Low-vision support early to protect development and learning. AAPOS

10. Family screening for relatives at risk. NCBI

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When to see a doctor—right away vs. routine

Right away / urgent: fever with urinary symptoms; flank/abdominal pain; very high or symptomatic blood pressure (headache, vomiting, visual changes); sudden swelling or shortness of breath; very reduced urine output; signs of severe dehydration; eye pain, sudden vision drop, or new double vision.

Routine but prompt: new or worsening protein in urine; rising BP readings; persistent fatigue/pallor; poor growth; school-related visual difficulties; recurrent UTIs; any concern about medication side effects.

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What to eat” and “what to avoid

These are general themes—individual lab results (potassium, phosphorus, bicarbonate) will change the plan.

Often good to eat (with your dietitian’s portions):

1. Fresh fruits/vegetables compatible with your potassium goals;

2. Whole grains (portion-controlled if phosphorus is an issue);

3. Lean proteins in amounts matched to CKD stage (eggs, fish, poultry);

4. Healthy fats (olive/canola oil, nuts/seeds in CKD-appropriate amounts);

5. Adequate calories to support growth in kids. PMC

Often best to limit/avoid:

1. High-sodium foods (chips, instant noodles, fast food) to protect BP.
2. Processed meats (very salty and phosphate-additive heavy).
3. Cola and packaged foods with “phos-” additives (raise phosphorus).
4. Very high-potassium foods if your levels run high (certain bananas, oranges, potatoes—dietitian will tailor).
5. Herbal “kidney cleanse” products—some are nephrotoxic. KDIGO

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Frequently asked questions

1) Is there a cure for the eye problem in PRS?
There’s no way to “re-grow” an under-developed optic nerve. Care focuses on maximizing remaining vision with glasses, low-vision aids, school support, and treating amblyopia/strabismus when helpful. Cleveland ClinicAmerican Academy of Ophthalmology

2) Can kidney problems be prevented in PRS?
We can’t change the nephron number you’re born with, but controlling blood pressure, treating proteinuria, avoiding kidney toxins, preventing UTIs, and following CKD nutrition can slow progression. KDIGO

3) What gene is involved?
Most cases are from variants in PAX2, a transcription factor crucial for kidney and optic nerve development. MedlinePlus

4) How is PRS inherited?
Usually autosomal dominant—one altered copy can cause the condition. Some people inherit it; others have a de novo change. Expressivity is variable even in one family. NCBI

5) Does every person with a PAX2 variant have both kidney and eye issues?
No. Some have kidney-only or eye-only findings, and severities vary widely. NCBI

6) Should relatives be tested?
Yes, families often benefit from targeted PAX2 testing plus eye/kidney screening in at-risk relatives, guided by a genetic counselor. NCBI

7) What blood pressure target is used?
KDIGO suggests tight control; in adults with CKD, a systolic BP <120 mm Hg (standardized measurement) when tolerated is recommended to reduce risk. Pediatric targets are age/height-specific. Kidney International

8) Are SGLT2 inhibitors useful if I don’t have diabetes?
In many adults with CKD and albuminuria, yes—large trials show kidney protection even without diabetes; your team checks eligibility and age considerations. KDIGO

9) Do antibiotics prevent kidney scarring in VUR?
Continuous prophylaxis is now individualized; it’s used for recurrent infections or signs of kidney damage risk, and surgery is considered for breakthrough febrile UTIs. NCBIPMC

10) What about anemia?
Treat iron deficiency, then consider ESAs if needed per KDIGO anemia guidance; targets and doses are personalized. KDIGO

11) Can supplements help?
Some (vitamin D, iron, omega-3s) can help in the right patient, but some herbs hurt kidneys. Always clear supplements with your clinicians. KDIGO

12) Is stem-cell therapy available for PRS now?
Not as standard care. MSC approaches are research-only; early trials suggest safety with possible benefits in some kidney diseases, but they remain experimental. PMC

13) Will my child need dialysis or transplant?
Not always. Many children do well with careful monitoring and treatment. Some progress to kidney failure and may need dialysis and ultimately transplant. KDIGO

14) How often should eyes and kidneys be checked?
Your team will set a schedule (e.g., periodic BP/urine/blood tests, ultrasound intervals, and annual eye checks in many cases). The timing depends on age and current findings. Orpha.net

15) Can PRS affect hearing or joints?
A minority have mild high-frequency hearing loss or joint laxity. Ask for hearing screening if there are concerns. MedlinePlus

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.

The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members

Last Updated: August 19, 2025.