Nephronophthisis

Nephronophthisis is an inherited kidney disease where the tiny tubules (pipes) inside the kidney slowly scar and form small cysts near the border between the cortex and medulla. Over years, the kidneys shrink and lose function, usually leading to chronic kidney disease (CKD) and, in many children or teens, kidney failure. NPH is a ciliopathy—genes that build the cell’s “antenna” (primary cilium) do not work properly, so kidney tubule cells can’t sense fluid flow and signals correctly.

Nephronophthisis (NPH) is a genetic, recessive kidney disorder. “Nephron” means the kidney’s working unit; “phthisis” means wasting. In NPH, the kidney’s tubules become inflamed and scarred (tubulointerstitial fibrosis). The tubule walls get thick and irregular (basement membrane changes). Over time, small cysts appear at the corticomedullary junction (where the outer and inner kidney meet). Kidneys become small and echogenic on ultrasound. Early signs are excess thirst and urination (the kidneys cannot concentrate urine). Blood tests later show anemia, acidosis, mineral-bone problems, and rising creatinine. Many patients reach kidney failure in childhood, teens, or early adulthood, depending on the gene type.

NPH is part of a family of ciliopathies—conditions caused by faulty cilia in many organs. Because cilia work in the eye, brain, and liver too, some children also have retinal degeneration (Senior–Løken syndrome), neurologic features (for example, Joubert spectrum), liver fibrosis, or skeletal findings. The most common genetic cause is a deletion in NPHP1, but many other genes exist (NPHP2/INVS, NPHP3, NPHP4, CEP290, etc.). There is no approved cure that stops the scarring today. Care aims to control symptoms, protect kidney function, and prepare for dialysis and transplant when needed. Kidney transplant is effective, and NPH does not recur in the new kidney.

Nephronophthisis is a rare, inherited kidney disease in children and young people. It mainly damages the tiny tubes of the kidney (tubules). These tubes scar and slowly stop working. Over time, the kidney loses its ability to concentrate urine, so the child passes large amounts of very dilute urine and feels very thirsty. Later, small cysts often appear near the border of the kidney cortex and medulla. The kidneys are usually normal-sized or small and look “bright” on ultrasound. The disease is autosomal recessive, which means a child gets a faulty gene from both parents. It is a ciliopathy, meaning the root problem is in tiny cell parts called cilia. Without treatment, many patients reach kidney failure in adolescence or early adulthood. Genetic testing now helps confirm the diagnosis and can sometimes link kidney problems to eye or brain findings in related “syndromic” forms. NCBI+1PMCMedlinePlus

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Another names

Nephronophthisis is also called NPHP or NPHP-related ciliopathy. Older papers may say juvenile nephronophthisis for the common form, infantile nephronophthisis for very early disease, or adolescent nephronophthisis for later onset. You may also see tubulointerstitial nephritis with medullary cysts because scarring of tubules and small cysts near the corticomedullary junction are typical. Historically, some grouped it with “nephronophthisis–medullary cystic kidney disease (NPH–MCKD) complex,” but today medullary cystic kidney disease is recognized as a different disorder (now called autosomal dominant tubulointerstitial kidney disease, ADTKD). So, NPHP and ADTKD are not the same condition. Lippincott JournalsPMC

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Types

By age of kidney failure (ESRD):

1. Infantile NPHP: kidney failure usually before age 3.

2. Juvenile NPHP: the most common; kidney failure around early teens (median ~13 years).

3. Adolescent/young-adult NPHP: kidney failure later in the teen years or 20s.
   This age-based grouping helps doctors guess the gene involved and how fast the disease may progress. UChicago Genetic ServicesNCBI

By whether other organs are involved:

• Isolated NPHP: only the kidneys are affected.

• Syndromic NPHP: kidneys plus other organs. Examples include Senior-Løken syndrome (kidneys + retinal degeneration) and Joubert syndrome–related NPHP (kidneys + brain malformation with the “molar tooth sign”). NCBIPMC+1

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Causes

Nephronophthisis is caused by variants (mutations) in many different genes that make proteins working in primary cilia of kidney cells (and sometimes of eye and brain cells). Below are 20 well-known genetic or closely related causes. (In families with consanguinity, the chance of two copies of the same recessive variant is higher.)

1. NPHP1 deletion/variants: the single most common cause worldwide; often associated with juvenile NPHP. UpToDateMedlinePlus

2. NPHP2 (INVS): often linked to infantile NPHP with fast kidney decline. PMC

3. NPHP3: can cause infantile to juvenile disease; sometimes with liver or other features. NCBI

4. NPHP4: juvenile disease; may overlap with eye findings in some patients. NCBI

5. NPHP5 (IQCB1): frequently causes Senior-Løken syndrome (retinal dystrophy + NPHP). PMC

6. NPHP6 (CEP290): can cause kidney disease and severe retinal disease; also appears in Joubert spectrum. NCBI

7. NPHP7 (GLIS2): usually severe, early-onset kidney disease. NCBI

8. NPHP8 (RPGRIP1L): may combine kidney, brain, and craniofacial features. NCBI

9. NPHP9 (NEK8): ciliary protein; infantile presentations are described. PMC

10. NPHP10 (SDCCAG8): sometimes causes kidney plus retinal disease. NCBI

11. NPHP11 (TMEM67): linked to Joubert/COACH spectrum; may include liver fibrosis. NCBI

12. CEP164: a ciliary transition-zone protein gene; kidney and sometimes eye/airway involvement. PMC

13. CEP83/CEP135 and other centrosomal genes: disturb cilia assembly and function. PMC

14. TTC21B: affects ciliary intraflagellar transport; ranges from isolated to syndromic disease. PMC

15. WDR19 (IFT144): another intraflagellar transport gene; kidney + possible eye/bone issues. PMC

16. IFT140: part of the IFT-A complex; can cause cranioectodermal dysplasia spectrum with kidney disease. PMC

17. BBS genes (e.g., BBS1–BBS12): Bardet–Biedl syndrome genes can sometimes overlap with NPHP-like kidney disease. PMC

18. AHI1: a Joubert gene; some patients develop NPHP. PMC

19. C5orf42 (CPLANE1): Joubert spectrum gene; kidney involvement possible. PMC

20. Consanguinity/family history of ciliopathies: not a gene itself, but increases the chance of recessive NPHP in children. NCBI

(Doctors often use a multigene NPHP panel or exome/genome testing to find the exact gene.) UChicago Genetic Services

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Symptoms

1. Passing large amounts of urine (polyuria): the kidney can’t concentrate urine, so the child urinates often and much. MedlinePlus

2. Always thirsty (polydipsia): the body tries to replace the lost water. MedlinePlus

3. Night-time urination or bed-wetting (nocturia/enuresis): common due to dilute urine. NCBI

4. Poor weight gain and slow growth: long-term fluid and salt losses plus kidney disease can stunt growth. PMC

5. Fatigue and weakness: anemia and toxins building up can cause tiredness. MedlinePlus

6. Loss of appetite and nausea (later): signs of worsening kidney function (uremia). PMC

7. Pale skin (anemia): kidneys make less erythropoietin as disease advances. PMC

8. Dehydration episodes: due to salt and water loss, especially with illness or heat. PMC

9. Headaches or trouble concentrating: metabolic changes can affect wellbeing. PMC

10. Bone pain or deformities (late): from renal bone disease after long kidney failure. PMC

11. High blood pressure (often later): tends to appear as kidney function drops. PMC

12. Vision problems (in some): night blindness or loss of peripheral vision with Senior-Løken syndrome. PMC

13. Unsteady movements or developmental delay (some): when part of Joubert syndrome, due to cerebellar vermis problems. PMC

14. Liver issues in some forms: certain genes link to liver fibrosis with kidney disease. PMC

15. Symptoms of kidney failure: swelling, shortness of breath, and itching may appear late. PMC

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Diagnostic tests

A) Physical exam

1. Growth and nutrition check: measuring height, weight, and growth curves helps spot poor growth from chronic kidney disease and salt/water loss. Doctors also look for signs of anemia and bone problems. PMC

2. Vital signs and blood pressure: blood pressure can be normal early and rise later; pulse and temperature also show hydration or infection. PMC

3. Hydration status: dry mouth, reduced skin turgor, and sunken eyes suggest volume depletion from high urine output. PMC

4. Abdominal exam for kidneys: the kidneys are usually normal-sized or small, so they are often not enlarged on palpation; this helps separate NPHP from polycystic diseases with big kidneys. UChicago Genetic Services

5. Eye and neurologic exam (when syndromic disease is suspected): checking visual fields, fundus, and basic coordination can reveal Senior-Løken or Joubert features. PMC+1

B) “Manual” bedside tests

6. Intake–output chart over 24–48 hours: simple tracking shows true urine volume and thirst, proving concentrating problems.

7. Orthostatic blood pressure test: measuring BP lying and standing can show volume depletion from salt and water loss.

8. Bedside urine specific gravity (dipstick or refractometer): very low specific gravity points to dilute urine and poor concentrating ability.

9. 24-hour urine collection: measures total volume (often high) and checks solute excretion patterns for tubule function.

10. Snellen visual acuity/funduscopy in clinic: quick screening to detect visual loss that may indicate Senior-Løken syndrome, prompting specialized eye tests. PMC

C) Lab and pathological tests

11. Serum creatinine with eGFR: estimates kidney function and tracks decline toward kidney failure; often normal early and worsens over years. PMC

12. Electrolytes and bicarbonate (chemistry panel): can show low sodium from salt wasting and metabolic acidosis from tubule injury. PMC

13. Urinalysis (dipstick and microscopy): usually shows bland urine with little protein or blood compared with other kidney diseases, supporting a tubulointerstitial pattern. PMC

14. Urine osmolality / concentrating tests (sometimes with desmopressin): confirms poor concentrating ability, a hallmark of NPHP even before major GFR loss. NCBI

15. Genetic testing (NPHP multigene panel, exome, or genome): looks for variants in NPHP1 and many other cilia-related genes; now the main confirmatory test and helps define syndromic associations. UChicago Genetic ServicesNCBI

16. Kidney biopsy (less common now): if genetics are negative or unclear, biopsy may show tubular basement membrane disruption, tubular atrophy/dilation, and interstitial fibrosis with small corticomedullary cysts—classic for NPHP. UChicago Genetic ServicesPMC

D) Electrodiagnostic tests

17. Electroretinography (ERG): measures retinal electrical responses; reduced or absent signals support retinal dystrophy in Senior-Løken syndrome with NPHP. PMC

18. Visual evoked potentials (VEP): checks the visual pathway from eye to brain; can assist when visual complaints are present or when fundus signs are subtle in syndromic cases. Eye Disorders Database

19. Electrocardiogram (ECG): not specific to NPHP, but important if blood tests show high potassium or acidosis; detects dangerous rhythms from electrolyte imbalance in advanced kidney disease. (General CKD practice.)

20. Polysomnography or respiratory monitoring (selected Joubert cases): some children have breathing rhythm problems; testing helps guide support. PMCThe Lancet

E) Imaging tests

21. Renal ultrasound: usually shows normal-sized or small “bright” (echogenic) kidneys with poor corticomedullary differentiation; small cysts at the corticomedullary junction may appear later. This pattern helps distinguish NPHP from polycystic diseases. PMCAJR Online

22. Renal MRI (selected cases): offers more detail on scarring and cysts when ultrasound is unclear or when planning a biopsy or surgery. PMC

23. Brain MRI (if Joubert features): looks for the “molar tooth sign” from cerebellar vermis and brainstem changes; confirms Joubert-related NPHP. MedlinePlusNational Organization for Rare Disorders

24. Optical coherence tomography (OCT) of the retina: high-resolution retina images document thinning and photoreceptor loss in Senior-Løken syndrome. Eye Disorders Database

25. Prenatal/early pediatric ultrasound (in infantile forms): may show increased kidney echogenicity and early structural changes, leading to earlier evaluation and genetic testing. PMC

Non-pharmacological treatments

1. Aerobic activity program (light-to-moderate, 3–5 days/week)
   Description (~150 words): A gentle, regular walking or cycling plan improves stamina in children and adults with CKD due to NPH. Sessions start short (10–15 minutes) and build toward 30 minutes as tolerated, with rest breaks and hydration planning. Supervise at first if there is anemia or dizziness. Use talk-test intensity (you can speak in sentences but can’t sing).
   Purpose: reduce fatigue, improve heart fitness and mood.
   Mechanism: boosts mitochondrial efficiency, improves oxygen use, lowers inflammation.
   Benefits: better energy, sleep, appetite, and quality of life; supports school and play.

2. Progressive resistance training (2–3 days/week)
   Description: Simple body-weight and band exercises (sit-to-stand, wall push-ups, rows) strengthen legs and core. Start with 1 set of 8–12 reps, progress to 2–3 sets, rest 60–90 seconds.
   Purpose: fight muscle loss in CKD and inactivity.
   Mechanism: muscle protein synthesis and neuromuscular recruitment.
   Benefits: stronger gait and balance, more independence, safer transfers.

3. Flexibility and mobility work (daily 5–10 minutes)
   Description: Gentle stretching for calves, hamstrings, hip flexors, chest, and shoulders; add joint mobility drills.
   Purpose: keep movement easy, reduce stiffness from fatigue or inactivity.
   Mechanism: improves tissue extensibility and joint range.
   Benefits: smoother walking, less cramp risk, easier breathing posture.

4. Balance and gait training
   Description: Tandem stance, single-leg stance near support, stepping drills, and obstacle walks.
   Purpose: prevent falls and improve confidence.
   Mechanism: challenges vestibular and proprioceptive systems.
   Benefits: safer mobility at school/home; fewer injuries.

5. Inspiratory muscle training (IMT)
   Description: Breathing through a simple threshold device 5–10 minutes, 5 days/week.
   Purpose: reduce breathlessness during activity.
   Mechanism: strengthens diaphragm; improves ventilatory efficiency.
   Benefits: better activity tolerance and speech during exertion.

6. Energy-conservation coaching
   Description: Plan the day with priority tasks first, sit for chores, break work into small steps, and rest before you feel exhausted.
   Purpose: manage fatigue from anemia and uremia.
   Mechanism: pacing prevents anaerobic “energy crashes.”
   Benefits: steadier energy across the day; more school participation.

7. Edema self-management (positioning & gentle calf pump)
   Description: Elevate legs when resting; ankle pumps and short walks.
   Purpose: reduce swelling and discomfort.
   Mechanism: improves venous and lymphatic return.
   Benefits: lighter legs, easier shoe fit, better walking.

8. Posture and core stabilization
   Description: Practice neutral spine sitting/standing; core drills (dead bug, bird dog).
   Purpose: reduce back strain and breath effort.
   Mechanism: improves trunk endurance and rib cage mechanics.
   Benefits: less pain, better exercise and study posture.

9. Play-based activity for children
   Description: Games like tag (low intensity), dance, or ball toss with planned breaks.
   Purpose: keep movement fun and consistent.
   Mechanism: embeds aerobic and coordination work in play.
   Benefits: better adherence and mood; family bonding.

10. Sleep hygiene plan
    Description: Regular sleep/wake time, screen off 60 minutes before bed, cool/dark room; address nocturia scheduling (last fluids earlier), and treat restless legs if present (with the care team).
    Purpose: improve recovery and growth hormone release.
    Mechanism: stabilizes circadian rhythm; reduces arousal.
    Benefits: better daytime focus, appetite, and activity.

11. Heat and cold symptom care
    Description: Warm packs for cramps; cool packs for minor aches (avoid extremes, protect skin).
    Purpose: non-drug pain and spasm relief.
    Mechanism: alters nerve signals and blood flow.
    Benefits: fewer interruptions to activity and sleep.

12. Physiotherapy-guided return-to-activity after procedures
    Description: Graded re-conditioning after PD catheter placement or fistula surgery.
    Purpose: safe healing while preventing deconditioning.
    Mechanism: staged load protects tissue remodeling.
    Benefits: smoother recovery, quicker return to normal.

13. Hydration planning for polyuria
    Description: Small, frequent fluids; extra during heat/illness as guided by the team; avoid sudden fluid restriction unless advised.
    Purpose: prevent dehydration and dizziness.
    Mechanism: matches intake to high urine losses.
    Benefits: steadier blood pressure, better school attendance.

14. Constipation prevention routine
    Description: Daily fiber targets (food-based), movement, and bowel schedule.
    Purpose: reduce abdominal discomfort and nausea.
    Mechanism: improves gut motility.
    Benefits: better appetite and energy.

15. Safe activity & fall-prevention education
    Description: Teach shoe choice, clutter-free rooms, and safe carry loads.
    Purpose: avoid injuries that delay care.
    Mechanism: hazard awareness and balance strategy.
    Benefits: sustained independence.

Mind-body therapies

16. Mindfulness-based stress reduction (MBSR)
    Description: Short, daily breathing or body-scan practices (5–10 minutes).
    Purpose: reduce anxiety, pain perception, and sleep problems.
    Mechanism: down-regulates stress axis; improves attention.
    Benefits: calmer mood, better coping with chronic illness.

17. Cognitive behavioral therapy (CBT) for fatigue and worry
    Description: Brief, structured sessions to reframe unhelpful thoughts and build pacing skills.
    Purpose: improve adherence and quality of life.
    Mechanism: changes thought–behavior loops; reduces symptom focus.
    Benefits: better school performance and family communication.

18. Guided imagery/relaxation audio
    Description: 10-minute audio scripts before procedures or bedtime.
    Purpose: reduce pain and needle fear.
    Mechanism: engages cortical pain-gating and parasympathetic tone.
    Benefits: smoother clinic visits; better sleep.

19. Gentle yoga or chair yoga
    Description: Low-strain poses with breath focus, 2–3 times/week.
    Purpose: flexibility, balance, and stress control.
    Mechanism: combines movement with autonomic calming.
    Benefits: less stiffness; improved mood and sleep.

20. Biofeedback (where available)
    Description: Learn to control breathing rate and muscle tension with live feedback.
    Purpose: headache, anxiety, and blood-pressure support.
    Mechanism: trains autonomic regulation.
    Benefits: fewer stress spikes; better adherence.

Genetic/educational therapies

21. Genetic counseling for the family
    Description: Review inheritance (autosomal recessive, 25% recurrence risk for each pregnancy when both parents are carriers), options for sibling testing, and pregnancy planning.
    Purpose: informed family choices.
    Mechanism: risk assessment + education.
    Benefits: early detection in siblings; planned care.

22. Structured CKD self-management education
    Description: Stepwise lessons on blood pressure, fluids, diet, meds, and when to call the team; use teach-back.
    Purpose: improve daily decisions and safety.
    Mechanism: health literacy and habit building.
    Benefits: fewer ER visits; steadier labs.

23. Nutrition education tailored to stage
    Description: Sodium/phosphate/potassium targets by CKD stage; growth calories for children.
    Purpose: slow CKD complications.
    Mechanism: reduces toxic solute load and hormonal stress.
    Benefits: better growth, fewer cramps/itching.

24. School care plan & accommodations
    Description: 504/IEP-style plan for restroom access, hydration, clinic visits, PE adjustments.
    Purpose: keep education on track.
    Mechanism: coordinated supports with teachers.
    Benefits: attendance and performance improve.

25. Clinical-trial literacy & future gene-therapy overview
    Description: Explain current research (gene editing/gene replacement and stem-cell lines are experimental; not standard care).
    Purpose: realistic hope and safe choices.
    Mechanism: sets expectations; routes to registries.
    Benefits: access to information without risky, unproven treatments.

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Drug treatments

Important: Doses vary by age, weight, kidney function, and local protocols. These are typical examples—not personal medical advice.

1. ACE inhibitor (e.g., Enalapril)
   Class: RAAS blocker. Dose: often 0.1–0.5 mg/kg/day in children (max per label), or adult 5–20 mg/day, titrated.
   Purpose: control blood pressure; reduce glomerular pressure.
   Mechanism: blocks angiotensin-converting enzyme → dilates efferent arteriole → lowers intraglomerular pressure and slows protein-related damage (even if proteinuria is mild).
   Side effects: cough, rise in creatinine at start, high potassium, dizziness; avoid in dehydration.

2. ARB (e.g., Losartan)
   Class: RAAS blocker. Dose: child 0.7–1.4 mg/kg/day; adult 25–100 mg/day.
   Purpose: alternative to ACEi or add-on if ACE cough.
   Mechanism: blocks AT1 receptor; similar kidney protection.
   Side effects: hyperkalemia, dizziness; monitor labs.

3. Long-acting calcium channel blocker (e.g., Amlodipine)
   Class: Dihydropyridine CCB. Dose: child 0.05–0.3 mg/kg/day; adult 5–10 mg/day.
   Purpose: blood-pressure control when RAAS alone is not enough.
   Mechanism: vasodilation by blocking L-type calcium channels in vessels.
   Side effects: ankle edema, flushing, headache.

4. Loop diuretic (e.g., Furosemide)
   Class: Diuretic. Dose: individualized; often 0.5–2 mg/kg/dose; adult 20–80 mg/day+, adjust.
   Purpose: edema relief and blood-pressure aid when GFR falls.
   Mechanism: blocks Na-K-2Cl in Henle loop → diuresis.
   Side effects: dehydration, low potassium/sodium, ototoxicity at high doses.

5. Sodium bicarbonate (oral)
   Class: Alkali therapy. Dose: often 0.5–1 mEq/kg/day divided; titrate to serum bicarbonate ~22–26 mEq/L.
   Purpose: fix metabolic acidosis.
   Mechanism: buffers acid → less muscle breakdown and better bone health.
   Side effects: bloating, sodium load (watch BP/edema).

6. Erythropoiesis-stimulating agent (e.g., Epoetin alfa or Darbepoetin)
   Class: ESA. Dose: weight-based SC every 1–4 weeks; target hemoglobin per pediatric/renal guidelines.
   Purpose: treat CKD anemia when iron is adequate.
   Mechanism: stimulates red-cell production in marrow.
   Side effects: hypertension, headache; rare thrombosis if over-corrected.

7. Iron therapy (oral or IV)
   Class: Mineral supplement/medication. Dose: oral elemental iron ~2–3 mg/kg/day in children; IV per protocols.
   Purpose: support ESA and fix iron deficiency.
   Mechanism: supplies iron for hemoglobin.
   Side effects: GI upset (oral), allergy risk (IV), constipation.

8. Active vitamin D analog (e.g., Calcitriol) or nutritional vitamin D (cholecalciferol by stage)
   Class: Vitamin/hormone. Dose: small mcg doses of calcitriol under close monitoring; cholecalciferol per deficiency.
   Purpose: manage secondary hyperparathyroidism and bone health.
   Mechanism: improves calcium absorption; suppresses PTH.
   Side effects: high calcium/phosphate → vascular calcification if overdone.

9. Phosphate binder (e.g., Sevelamer carbonate)
   Class: Non-calcium phosphate binder. Dose: with meals, titrate to serum phosphate goals.
   Purpose: control high phosphate in later CKD.
   Mechanism: binds phosphate in gut → less absorption.
   Side effects: GI upset, constipation.

10. Calcimimetic (e.g., Cinacalcet; often dialysis patients)
    Class: Calcium-sensing receptor modulator. Dose: start low; titrate by PTH and calcium.
    Purpose: treat severe secondary hyperparathyroidism.
    Mechanism: increases CaSR sensitivity → lowers PTH.
    Side effects: low calcium, nausea; requires monitoring.

11. Patiromer or Sodium zirconium cyclosilicate
    Class: Potassium binders. Dose: per label; separated from other meds.
    Purpose: control high potassium when RAAS blockers are needed.
    Mechanism: exchanges ions in the gut to remove potassium.
    Side effects: constipation, low magnesium (patiromer), edema risk (SZC’s sodium).

12. Antihypertensive add-ons (e.g., Beta-blocker)
    Class: Beta-blocker. Dose: weight-based; examples: atenolol 0.5–1 mg/kg/day.
    Purpose: BP control and heart rate management.
    Mechanism: blocks β-receptors → lowers cardiac output/stress.
    Side effects: fatigue, cold extremities, sleep issues.

13. Recombinant human growth hormone (rhGH) in selected pediatric CKD
    Class: Anabolic hormone therapy. Dose: per pediatric endocrine guidelines SC daily.
    Purpose: improve linear growth when nutrition and acidosis are addressed.
    Mechanism: promotes growth plate activity.
    Side effects: headache, glucose effects; specialist monitoring needed.

14. Antiemetic (e.g., Ondansetron)
    Class: 5-HT3 antagonist. Dose: age/weight-based as needed.
    Purpose: nausea control in advanced uremia or during iron infusions.
    Mechanism: blocks serotonin receptors in the gut/brain.
    Side effects: constipation, QT prolongation (rare; dose-aware).

15. Antibiotics for UTIs (as indicated)
    Class: Antimicrobials (choice by culture). Dose: weight- and kidney-adjusted.
    Purpose: treat infections promptly to protect kidney function.
    Mechanism: kills or inhibits bacteria causing UTI.
    Side effects: vary by drug; watch for nephrotoxicity (e.g., avoid high-dose aminoglycosides).

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Dietary molecular supplements

(evidence-aware; always clear with your renal dietitian/doctor before starting)

1. Omega-3 fatty acids (EPA/DHA)
   Dose: common 1–2 g/day combined in older teens/adults; pediatric per weight.
   Function/mechanism: anti-inflammatory lipid mediators; may support cardiovascular health and lower triglycerides.
   Notes: watch for bleeding risk at higher doses; fish-oil burps.

2. Water-soluble B-complex (B1, B6, B12, folate)
   Dose: renal multivitamin formulations daily.
   Mechanism: replaces losses from polyuria/dialysis; supports RBC formation and nerve health.
   Notes: avoid excess vitamin A; B vitamins are typically safe in CKD-adjusted products.

3. Vitamin D (cholecalciferol) when deficient
   Dose: per deficiency protocol and CKD stage.
   Mechanism: supports bone/mineral balance and immunity.
   Notes: monitor calcium/phosphate; sometimes active vitamin D is preferred in advanced CKD.

4. Oral iron (if iron-deficient)
   Dose: 2–3 mg/kg/day elemental iron in children, or adult 65–130 mg/day divided; or IV iron per clinic.
   Mechanism: supplies iron for hemoglobin.
   Notes: monitor ferritin/TSAT; constipation common.

5. Zinc
   Dose: often 5–10 mg/day elemental zinc in children; adult 10–25 mg/day if deficient.
   Mechanism: supports taste, appetite, wound healing, and immunity.
   Notes: too much lowers copper—monitoring advised.

6. Folate
   Dose: 0.4–1 mg/day typical; higher only if prescribed.
   Mechanism: erythropoiesis and DNA synthesis.
   Notes: check B12 concurrently.

7. Probiotics or synbiotics
   Dose: product-specific; daily use.
   Mechanism: may reduce gut-derived uremic toxins (p-cresyl sulfate, indoxyl sulfate).
   Notes: benefits modest; avoid in severe immunosuppression.

8. Fiber (inulin/psyllium foods first)
   Dose: age-appropriate targets; supplements per label with fluids.
   Mechanism: improves bowel regularity; may bind toxins and improve microbiome.
   Notes: adjust if potassium or phosphorus restricted.

9. L-Carnitine (selected dialysis patients)
   Dose: per dialysis protocol (often IV post-dialysis).
   Mechanism: supports fatty acid transport and may improve cramps or fatigue in selected cases.
   Notes: specialist decision; not routine for all.

10. Coenzyme Q10 (considered adjunct)
    Dose: commonly 100–200 mg/day in adults (evidence mixed).
    Mechanism: mitochondrial cofactor that may support energy.
    Notes: discuss with team; interactions possible (e.g., warfarin).

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Immunity-booster / regenerative / stem-cell” drugs

1. Inactivated influenza vaccine
   Dose: annual per age schedule.
   Function/mechanism: primes immune system to prevent flu, which can worsen kidney function.
   Notes: safe in CKD; avoid live intranasal form in immunosuppressed.

2. Pneumococcal vaccines (PCV/PPV)
   Dose: as per age and risk (PCV series; PPSV23 for high-risk).
   Function: prevent serious bacterial infections.
   Mechanism: antibody formation to multiple serotypes.
   Notes: key pre-dialysis and pre-transplant.

3. Hepatitis B vaccine
   Dose: higher-dose or extra-dose schedules for CKD/dialysis; check titers.
   Function: protect against hepatitis B before possible dialysis/transplant.
   Mechanism: anti-HBs antibodies.
   Notes: boosters if titers fall.

4. COVID-19 vaccination (updated formulation)
   Dose: per current guidance.
   Function: reduce severe disease.
   Mechanism: adaptive immune priming.
   Notes: time doses around transplant/immune therapy per team.

5. Regenerative/stem-cell therapies for NPH (experimental)
   Dose: none approved.
   Function/mechanism: research explores renal progenitor or mesenchymal cells to reduce fibrosis or replace function.
   Notes: Not standard care; consider only in approved clinical trials.

6. Gene-therapy / CRISPR for NPHP genes (experimental)
   Dose: none approved.
   Function/mechanism: aim to replace or repair faulty gene (e.g., NPHP1).
   Notes: Investigational; families may join registries to hear about future trials.

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Surgeries/procedures

1. Kidney biopsy
   Procedure: ultrasound-guided needle takes tiny tissue cores.
   Why: confirm diagnosis when genetic test is unclear and rule out other diseases.

2. Peritoneal dialysis (PD) catheter insertion
   Procedure: soft tube placed into the abdomen in the OR.
   Why: allows home-based dialysis using the peritoneum as a filter; often preferred for children.

3. Arteriovenous (AV) fistula creation
   Procedure: connect an artery to a vein (usually in the arm).
   Why: best long-term vascular access for hemodialysis; fewer infections than catheters.

4. Temporary hemodialysis catheter
   Procedure: tunneled line placed in a central vein.
   Why: short-term access while fistula matures or in urgent dialysis.

5. Kidney transplantation
   Procedure: surgical placement of a donor kidney in the pelvis; immunosuppressants afterward.
   Why: best quality of life and growth; NPH does not recur in the graft.

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Prevention and protection tips

1. Genetic counseling for family planning and sibling testing.

2. Adequate hydration during heat/illness to offset polyuria.

3. Avoid nephrotoxins (NSAIDs, high-dose aminoglycosides, contrast without safeguards).

4. Blood-pressure control as per targets.

5. Sodium moderation (most days ≤2 g sodium in older teens/adults; pediatric targets individualized).

6. Timely vaccines (flu, pneumococcus, hep B, COVID-19).

7. Prompt UTI care—don’t wait with fever or painful urination.

8. Acidosis correction and anemia treatment to protect muscle and bone.

9. Regular monitoring (labs, growth charts, BP, urine).

10. Early transplant evaluation to avoid long catheter dialysis if possible.

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When to see doctors urgently (red flags)

• New or severe vomiting, cannot keep fluids down

• Very low energy, confusion, or chest pain

• Hardly passing urine or sudden weight gain/leg swelling

• Severe headache or very high blood pressure

• Fever or painful urination (possible UTI)

• Worsening shortness of breath

• Vision changes or new neurologic signs (if syndromic)

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What to eat and what to avoid

1. Focus on fresh, unprocessed foods. Processed foods are high in salt and phosphorus additives.

2. Protein: follow stage-appropriate guidance—adequate for growth but not excessive; lean sources.

3. Sodium: cook with herbs/spices; target low-salt meals to help BP and swelling.

4. Potassium: tailor to labs. If high, choose lower-K fruits (apples, berries, grapes) and limit bananas, oranges, dried fruits, coconut water.

5. Phosphorus: prefer natural proteins; limit cola, processed cheese, and phosphate-additive snacks.

6. Calcium & vitamin D: meet needs with the team; supplements only if prescribed.

7. Fluids: match intake to urine losses; avoid sugar sweetened drinks—choose water.

8. Fiber: vegetables and grains that fit K/Phos limits to keep bowels regular.

9. Avoid herbal “kidney cleanses.” Many harm the kidneys.

10. Growth-friendly calories for kids: small frequent meals, add healthy fats (olive oil, nut-allergy permitting; check potassium if using nut butters).

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Frequently asked questions

1. Is there a cure for NPH?
   No approved cure yet. Supportive care and kidney transplant offer excellent outcomes; disease does not come back in the new kidney.

2. How is NPH inherited?
   Autosomal recessive. Each pregnancy of two carriers has a 25% chance of an affected child, 50% carrier, 25% unaffected.

3. Can siblings be tested?
   Yes—genetic testing (if the family variant is known) and kidney screening help early care.

4. Why does my child drink and pee so much?
   The kidneys cannot concentrate urine, so water is lost; the brain triggers thirst to replace it.

5. Will blood pressure always be high?
   Not always early, but it becomes more common as CKD progresses—so regular checks are vital.

6. Does NPH affect the eyes or brain?
   Some gene types include retinal degeneration (Senior–Løken) or neurologic features (Joubert spectrum). Doctors screen for these.

7. What about sports and play?
   Most kids can be active with pacing and hydration. Avoid high-impact risks right after access surgery or if blood pressure is poorly controlled.

8. Which dialysis is best?
   Peritoneal dialysis suits many children for home routines. Hemodialysis works well too. The team helps you choose.

9. How good is transplant for NPH?
   Very good. Graft survival is similar to other pediatric causes, and NPH does not recur in the graft.

10. Will diet cure NPH?
    No. Diet supports health and slows complications but cannot reverse scarring.

11. Are stem-cell or gene therapies available?
    Not yet for routine care. They are in research. Ask about registries or trials, but avoid unregulated clinics.

12. Can we use over-the-counter pain pills?
    Avoid NSAIDs (ibuprofen, naproxen) unless your nephrologist says otherwise. Use alternatives recommended by the team.

13. What is the long-term outlook?
    Many children eventually need dialysis or transplant. With modern care, quality of life and lifespan improve greatly, especially after transplant.

14. Is pregnancy possible later?
    Many women with a well-functioning transplant can have successful pregnancies with specialist care. Pre-pregnancy counseling is essential.

15. How often do we need labs and visits?
    Depends on CKD stage; typically every 3–6 months early, then monthly or more often as kidney function declines or after starting dialysis.

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: September 09, 2025.

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