Autosomal dominant hypophosphatemic rickets (ADHR) is a rare, inherited disorder where the kidneys waste phosphate, causing low blood phosphate (hypophosphatemia), weak mineralization of growing bone (rickets in children) or of mature bone (osteomalacia in adolescents/adults), bone pain, deformities, short stature, and dental problems. The core biological driver is overactivity of the bone-derived hormone FGF23 (fibroblast growth factor 23), most often because of specific gain-of-function mutations in the FGF23 gene that make the hormone unusually hard to deactivate. Persistently active FGF23 tells the kidneys to spill phosphate into the urine and down-regulates active vitamin D, so the gut absorbs less phosphate; the combination starves bone of phosphate and undermines mineralization. Kidney International+2PubMed+2

Autosomal dominant hypophosphatemic rickets (ADHR) is a rare, inherited bone-mineral disorder caused by specific changes (mutations) in a hormone called FGF23. These mutations make FGF23 last longer in the body and tell the kidneys to waste phosphate in urine. Low blood phosphate then weakens growing bone in children (rickets) and softens bone in adults (osteomalacia), leading to bowed legs, bone pain, muscle weakness, dental abscesses, and fractures. A key feature is that iron deficiency can “switch on” or worsen ADHR, because low iron further increases FGF23 activity; improving iron status can normalize phosphate in some patients. Standard care focuses on replacing phosphate, adding active vitamin D (calcitriol) to help absorb minerals safely, correcting iron deficiency when present, and orthopedic/dental care when needed. Newer drugs that block FGF23 (like burosumab) are FDA-approved for X-linked hypophosphatemia (XLH), not ADHR; any use in ADHR is off-label and requires specialist judgment. PMC+4OUP Academic+4PMC+4

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Other names

ADHR appears in the literature under several synonymous or closely related labels: FGF23-related hypophosphatemic rickets (autosomal dominant form), familial hypophosphatemic rickets (autosomal dominant subtype), and FGF23 gain-of-function hypophosphatemia. These all describe the same clinicogenetic entity in which FGF23 mutations cause renal phosphate wasting with rickets/osteomalacia. GARD Information Center+1

ADHR is a genetic kidney handling problem of phosphate. Because of a change (mutation) in the FGF23 gene, the body makes an FGF23 hormone that does not get cut and inactivated as it should. The “over-strong” FGF23 acts on the kidney to throw away phosphate in the urine and to turn down active vitamin D. Phosphate is essential for strong bone; without enough phosphate, growing bones bend (rickets), and adult bones soften (osteomalacia). People can have leg bowing, bone and muscle pain, poor growth, loose teeth or dental abscesses, and fatigue. The condition can start in childhood or later (even in adulthood), can vary in severity from person to person, and can wax and wane—sometimes improving spontaneously. NCBI+2PubMed+2

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Types

1) By age at onset

• Childhood-onset ADHR: Presents with classic rickets signs—genu varum/valgum (bowed or knocked knees), growth delay, and dental issues. NCBI

• Adult-onset ADHR: Presents later with bone pain, stress fractures/pseudofractures, and osteomalacia without obvious childhood deformities; some individuals report fluctuating disease activity across life. NCBI

2) By course

• Persistent/active form: Ongoing hypophosphatemia, symptoms, and radiographic changes. NCBI

• Intermittent/remitting form: Periods of improved phosphate levels and symptoms; spontaneous resolution of phosphate wasting has been reported in rare cases. NCBI

3) By genotype (mutation location)

• Cleavage-site (RXXR) mutations (e.g., R176Q, R179Q, R179W): Make FGF23 resistant to normal proteolytic cleavage, increasing intact circulating FGF23 and driving disease. These are the canonical ADHR mutations. PubMed+1

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Causes

Note: The root cause of ADHR is always a pathogenic variant in FGF23 that increases intact, active FGF23. The additional items below are modifiers or triggers that can worsen, unmask, or fluctuate the condition rather than independent “causes.” PubMed+1

1. FGF23 R176Q mutation — a missense change at the hormone’s proteolytic cleavage site that makes FGF23 resistant to inactivation. PubMed

2. FGF23 R179Q mutation — similar effect: persistent intact FGF23 and phosphate wasting. PubMed

3. FGF23 R179W mutation — another cleavage-site change with the same functional result. PubMed

4. General “cleavage-site” mutations (RXXR motif) — protect FGF23 from proteolysis, increasing biologically active hormone. PubMed

5. Increased FGF23 stability — the biochemical mechanism common to ADHR mutations; intact FGF23 stays high in blood. PubMed

6. Iron deficiency as a trigger — iron deficiency can increase intact FGF23 in FGF23-related disorders, and case series suggest it can exacerbate symptoms in ADHR (inference from FGF23 biology). Journal of Molecular Endocrinology

7. Rapid growth (childhood) — higher phosphate demand during growth can unmask phosphate wasting. (Biology inference supported by clinical presentation patterns.) NCBI

8. Pregnancy/post-partum — mineral demands change and may aggravate hypophosphatemia in genetic FGF23 excess (inferred from FGF23 pathophysiology). Journal of Molecular Endocrinology

9. Low dietary phosphate — further reduces available phosphate given renal losses. (General rickets physiology.) Journal of Molecular Endocrinology

10. Low vitamin D intake/status — worsens intestinal phosphate absorption when FGF23 already suppresses 1,25-dihydroxyvitamin D. Journal of Molecular Endocrinology

11. High dietary sodium — can increase urinary phosphate excretion; may marginally aggravate wasting. (Renal handling inference consistent with FGF23 effects.) Journal of Molecular Endocrinology

12. Concurrent renal tubular stress (e.g., medications) — drugs affecting proximal tubule (e.g., certain diuretics) can add to phosphate loss. (General renal physiology.) Journal of Molecular Endocrinology

13. Intercurrent illness/inflammation — cytokines can influence FGF23 biology; illness may worsen control. (Mechanistic inference from FGF23 literature.) Journal of Molecular Endocrinology

14. Poor adherence to phosphate/vitamin D therapy — allows hypophosphatemia to persist or worsen. (Guideline-based inference.) Nature

15. Late recognition — delayed diagnosis allows prolonged mineralization defects and deformities to progress. (Clinical experience summarized in references.) NCBI

16. High FGF23 co-morbid states — disorders with elevated FGF23 (e.g., TIO) are different diseases but illustrate the same pathway; understanding them underscores ADHR’s mechanism. New England Journal of Medicine

17. Low calcium intake — can compound mineralization issues alongside phosphate loss. (Bone biology inference.) Journal of Molecular Endocrinology

18. Limited sun exposure — may lower endogenous vitamin D production, further shrinking phosphate absorption. (General physiology.) Journal of Molecular Endocrinology

19. High phytate diets — phytates bind minerals and can reduce phosphate bioavailability. (Dietary inference.) Journal of Molecular Endocrinology

20. Genetic background/penetrance effects — ADHR has incomplete penetrance; other genes or epigenetic factors likely modulate severity. NCBI

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Symptoms and signs

1. Bone pain — a dull, aching pain in legs, hips, ribs, or spine, often worse with activity because poorly mineralized bone bends under load. Adults may describe “deep” pain that improves slowly with phosphate correction. NCBI

2. Leg bowing or knock-knees — cartilage at growth plates expands and mineralizes poorly, so weight-bearing bones bend, producing genu varum/valgum and a waddling gait in children. NCBI

3. Short stature or slowed growth — long bones cannot lengthen normally when phosphate is low, so height curves flatten in childhood. NCBI

4. Muscle weakness and easy fatigue — phosphate is crucial for ATP; low levels reduce muscle power, causing tired legs, difficulty climbing stairs, or a positive Gowers’ sign in kids. NCBI

5. Fractures or pseudofractures — weakened bone cracks with minor stress; adults can present with insufficiency fractures (Looser zones). NCBI

6. Dental abscesses/loose teeth — poor dentin mineralization and enlarged pulp chambers predispose to spontaneous abscesses without obvious cavities and to premature tooth loss. NCBI

7. Delayed tooth eruption and enamel defects — teeth appear late and may chip easily; dentists often suspect a systemic mineralization issue. NCBI

8. Bone deformities (chest, wrists/ankles) — rachitic rosary at the rib-sternum junction, widening of wrists/ankles where growth plates are active. Orpha

9. Back pain/kyphosis — vertebral osteomalacia can cause mechanical back symptoms and posture changes over time. Orpha

10. Stiffness and limited mobility — painful, under-mineralized bone and protective muscle tension limit range of motion. Orpha

11. Gait abnormalities — waddling gait due to hip abductor weakness and lower-limb deformity; children may tire quickly when walking. Orpha

12. Tenderness over bones — especially shins and ribs where stress is high. Orpha

13. Fatigue and low stamina — systemic effect of chronic pain, weak muscles, and low ATP reserve from phosphate deficit. Journal of Molecular Endocrinology

14. Hearing of “clicks” or “cracks” on movement — stress reactions along softened bones can produce mechanical sensations. (Clinical inference consistent with osteomalacia.) Orpha

15. Psychosocial impact — chronic pain, visible deformities, and dental issues affect self-esteem and school/work participation. (General quality-of-life inference in hypophosphatemic rickets.) Orpha

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Diagnostic tests

A) Physical examination

1. Growth measurements (height/weight/arm-span, growth-charting) — documents short stature or slowed velocity, typical in childhood-onset disease. Orpha

2. Lower-limb alignment exam (inter-condylar/inter-malleolar distances) — quantifies genu varum/valgum severity to guide orthopedics and track treatment response. Orpha

3. Gait and function tests (timed up-and-go/6-minute walk) — capture functional limitation from pain, weakness, or deformity; serial testing shows improvement with therapy. (Functional inference used in rickets care.) Pediatric Endocrine Society

4. Dentofacial exam (inspection, percussion) — identifies enamel defects, spontaneous abscesses, and tenderness; prompts dental imaging and care. NCBI

5. Skeletal tenderness and deformity mapping — palpation of shins, ribs, and pelvis plus inspection of wrists/ankles for metaphyseal flaring; baseline for monitoring. Orpha

B) “Manual” bedside assessments

6. Rickets severity scoring on radiographs (RSS) alongside clinical scoring — clinicians pair hands-on exam with standardized radiographic scores to track changes. (Practice pattern in hypophosphatemic rickets.) Pediatric Endocrine Society

7. Range-of-motion testing of hips/knees/ankles — detects contractures from deformity and disuse; guides physiotherapy plans. Orpha

8. Pain scales (VAS/NRS) and fatigue inventories — quantify subjective symptoms for treatment decisions (e.g., when to escalate therapy). (General clinical practice.) Pediatric Endocrine Society

9. Functional strength maneuvers (Gowers’ sign, chair-rise test) — screen for proximal muscle weakness due to chronic hypophosphatemia. (General rickets practice.) Orpha

10. Dental vitality tests (cold/electric pulp testing) — simple chairside checks to identify teeth at risk for necrosis/abscess in phosphate-wasting disorders. (Dental practice in hypomineralization.) Orpha

Note: “Manual tests” are supporting, bedside evaluations. The definitive diagnosis rests on laboratory features of renal phosphate wasting and, ideally, genetic confirmation of an FGF23 mutation. NCBI

C) Laboratory and pathological tests

11. Serum phosphate (low) — hallmark of ADHR; interpret using age-adjusted normal ranges (children normally run higher phosphate than adults). Orpha

12. Urinary phosphate and TmP/GFR (low) — shows inappropriate renal phosphate loss for the level of serum phosphate; TmP/GFR is the preferred index. Nature

13. Serum alkaline phosphatase (often high in children) — reflects active rickets/osteomalacia and bone turnover; useful for monitoring response. Pediatric Endocrine Society

14. 1,25-dihydroxyvitamin D (inappropriately low/normal) — FGF23 suppresses 1-alpha hydroxylase, so active vitamin D is not elevated despite hypophosphatemia. NCBI

15. Intact FGF23 (elevated or inappropriately normal) — a direct hormonal readout supporting FGF23-mediated hypophosphatemia (interpretation depends on assay and context). Journal of Molecular Endocrinology

16. Serum calcium, PTH, 25-OH vitamin D — usually normal calcium; PTH can be normal or secondarily elevated; 25-OH vitamin D helps exclude deficiency compounding the picture. (Differential workup standard.) Orpha

17. Genetic testing for FGF23 mutations — confirms ADHR when missense variants at the RXXR cleavage site (e.g., R176Q, R179Q, R179W) are found. PubMed

18. Optional adjuncts (bone turnover markers, biopsy in atypical cases) — rarely, a bone biopsy shows osteomalacia if diagnosis remains unclear; most cases do not need biopsy when labs and genetics fit. (Practice inference consistent with guidelines/experience.) Nature

D) Electrodiagnostic tests

19. Nerve conduction studies/EMG — not routinely indicated for ADHR. They may be used only to rule out a concurrent neuromuscular disorder when weakness seems disproportionate. The phosphate problem itself does not cause a primary neuropathy. Orpha

E) Imaging tests

20. Skeletal radiographs (wrist/knee, pelvis, long bones, and sites of pain) — show classic rickets (widened, cupped, frayed metaphyses) in children and Looser’s zones/pseudofractures in adults; serial films track healing with treatment. Orpha

21. DXA (bone density) and, when needed, whole-body or targeted bone scans — DXA helps quantify low mineralization; bone scans can localize painful stress reactions/pseudofractures in adults. (Common imaging approach in osteomalacia.) Nature

Non-pharmacological treatments (therapies & others)

1) Individualized nutrition plan (phosphate-supportive diet)
Work with a clinician/dietitian to include foods with absorbable phosphate (e.g., dairy/fish/eggs) and adequate calcium while avoiding unsupervised “high-dose” supplements. This supports bone mineralization but must be paired with medical therapy to avoid imbalances. PMC+1

2) Iron repletion through diet (when iron is low)
Because iron deficiency can trigger ADHR activity, food sources of iron (meat, legumes) plus vitamin C for absorption may help, alongside medical iron if needed. Improving iron sufficiency can reduce FGF23 overactivity and improve phosphate levels in ADHR. OUP Academic+1

3) Physical therapy (strength & mobility)
Targeted exercises build muscle strength around weak bones, improve gait, and reduce falls. Therapists also teach energy conservation and safe movement while medical therapy restores mineral balance. PMC

4) Stretching & flexibility routines
Gentle, regular stretching preserves joint range of motion around bowed or painful limbs and helps posture while rickets heals. PMC

5) Weight-bearing as tolerated
Short, frequent, supervised weight-bearing activities stimulate bone without overload. Clinicians adjust intensity to pain and deformity status to avoid stress fractures until labs and X-rays improve. PMC

6) Orthotics (bracing/insoles)
Custom braces or shoe inserts can unload painful joints and improve alignment during growth or while waiting for corrective surgery, aiding function and comfort. Medscape

7) Guided growth counseling (timing & expectations)
Families learn when temporary hemiepiphysiodesis (“guided growth”) can gradually correct knock-knee or bow-leg in growing children, often preferred over larger osteotomies when feasible. PMC+1

8) Fall-prevention training
Home safety changes, balance drills, and assistive devices lower fracture risk while bones remineralize under treatment. PMC

9) Pain coping skills (non-drug)
Heat/cold, pacing, sleep hygiene, and cognitive-behavioral strategies help daily comfort while metabolic correction proceeds. PMC

10) Dental prevention program
Regular dental care (sealants, prompt treatment of abscesses) limits tooth complications common in hypophosphatemic rickets. Coordination before orthodontics or implants is important. Nature

11) Pre-surgical “bone-building” optimization
Short periods of well-managed phosphate + active vitamin D before orthopedic or dental procedures improve bone healing and implant integration. Bioscientifica

12) Sunlight & safe vitamin D habits
Normal vitamin D status supports mineral absorption; however, active vitamin D (calcitriol) is usually needed in ADHR, so dosing must be physician-directed to avoid calcium problems. PMC

13) Growth and development monitoring
Regular checks of height, legs alignment, dental status, and pain help time braces or surgery and adjust medicines. Orpha

14) Lab monitoring education
Families learn targets and risks: alkaline phosphatase for rickets activity; phosphate, calcium, PTH, urine calcium; and kidney ultrasound for nephrocalcinosis when on therapy. PMC

15) School/work accommodations
Temporary activity limits, rest breaks, and ergonomic aids reduce strain during active bone disease or recovery from surgery. PMC

16) Footwear optimization
Stable shoes with cushioning and medial/lateral posting can improve gait mechanics and comfort in valgus/varus knees. Medscape

17) Home exercise equipment
Low-impact devices (stationary cycle) maintain aerobic fitness without excessive bone stress during healing. PMC

18) Psychosocial support
Address chronic pain, appearance concerns, and treatment fatigue with counseling/support groups to improve adherence and quality of life. PMC

19) Genetic counseling
Because ADHR is autosomal dominant, first-degree relatives may be affected; counseling discusses testing and family planning. Orpha

20) Pre-pregnancy planning
In adults with ADHR, correct iron deficiency and optimize mineral status before and during pregnancy with specialist oversight to protect parent and fetus. OUP Academic

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Drug treatments

Important context. No medicine is FDA-approved specifically for ADHR. Standard care uses off-label combinations: oral phosphate, active vitamin D (calcitriol), and iron if iron deficiency is present. Burosumab (an anti-FGF23 antibody) is FDA-approved for X-linked hypophosphatemia (XLH) and tumor-induced osteomalacia, not ADHR; any ADHR use is off-label and specialist-guided. Doses below are label doses for their approved indications and are included so you can confirm safety information; your clinician individualizes therapy for ADHR. FDA Access Data+3PMC+3FDA Access Data+3

1) Calcitriol (Rocaltrol®) — active vitamin D
What it is & why used (≈150 words): Calcitriol is the active form of vitamin D that boosts intestinal calcium/phosphate absorption and helps mineralize bone. In ADHR, it is paired with phosphate to prevent secondary hyperparathyroidism and to drive healing of rickets/osteomalacia. Strict lab monitoring prevents high calcium, high urine calcium, or kidney calcifications. Class: Vitamin D analog. Typical oral doses in label (for approved uses): 0.25–0.5 mcg capsules or 1 mcg/mL solution; dosing is individualized and titrated to labs. When to take: Once or divided per prescriber. Mechanism: Binds vitamin D receptor, increasing calcium/phosphate transport and bone formation. Key side effects: Hypercalcemia, hypercalciuria, nephrocalcinosis—hence frequent labs and dose adjustment. FDA Access Data+1

2) Oral phosphate salts (e.g., K-Phos Neutral/Phospha 250 Neutral)
What & why: Oral phosphate replaces urinary losses and raises serum phosphate to allow bone healing; typically given in small, frequent doses with calcitriol. Class: Phosphate salts (sodium/potassium). Typical oral amounts referenced: 1–2 tablets four times daily (product-specific; clinician adjusts by weight/labs). Timing: Divided doses with meals to reduce GI upset. Mechanism: Direct phosphate replacement. Side effects: GI upset, diarrhea; if overdosed and without calcitriol support, risk of secondary hyperparathyroidism and calcium problems. Note: Many oral phosphate products are marketed, but not all have formal FDA approvals as single-ingredient oral prescriptions; label and DailyMed entries provide composition/directions. DailyMed+2FDA Access Data+2

3) Potassium Phosphates Injection (IV) — for acute/severe cases when oral not possible
What & why: Used in hospital to correct significant hypophosphatemia if the patient cannot take oral medication; not a routine outpatient ADHR therapy. Class: Injectable phosphate. Dose (label): Provides 3 mmol/mL phosphorus; dosing individualized; warnings about infusion rate and potassium load. Mechanism: Rapid phosphate repletion. Side effects: Hyperkalemia, hypocalcemia, arrhythmias if given improperly; requires monitored IV infusion. FDA Access Data+1

4) Potassium Phosphates in Sodium Chloride Injection (IV) — alternative inpatient source
As above, premixed IV phosphate source for patients ≥40 kg when oral/enteral is not possible. Hospital use with cardiac/chemistry monitoring. FDA Access Data

5) Burosumab-twza (Crysvita®) — FGF23 blocker (approved for XLH, not for ADHR)
What & why: Monoclonal antibody that binds FGF23, raising serum phosphate by reducing renal phosphate wasting. Indication (label): XLH in children and adults; must stop oral phosphate and active vitamin D one week before starting. Any use in ADHR is off-label, considered only by specialists with informed consent. Side effects: Injection site reactions, headache; label details monitoring of serum phosphorus. FDA Access Data+1

6) Iron sucrose (Venofer®) — IV iron for iron deficiency
Why in ADHR: When iron deficiency is present, repletion can reduce FGF23 overactivity and improve phosphate handling in ADHR; route (oral vs IV) depends on tolerance and severity. Label: IV iron for iron-deficiency anemia, especially in CKD; dosing and safety are on label. Key risks: Hypersensitivity, hypotension; give under supervision. FDA Access Data+2OUP Academic+2

7) Ferric carboxymaltose (Injectafer®) — IV iron
Role: Alternative IV iron when rapid repletion is needed or oral iron fails. Label: Dosing schedules and warnings (e.g., hypertension, hypophosphatemia) are detailed in FDA label. Note: Rarely, ferric carboxymaltose can lower phosphate; clinicians balance benefits/risks in phosphate-wasting disorders. FDA Access Data+1

8) Ferumoxytol (Feraheme®) — IV iron
Role: Another IV iron option for iron-deficiency anemia when needed for ADHR patients with iron deficiency. Label warnings: Risk of serious hypersensitivity and hypotension; administer where resuscitation is available. FDA Access Data+1

9) Paricalcitol (Zemplar®) — active vitamin D analog (CKD label)
Why considered: In select cases, vitamin D analogs are used to manage PTH/calcium-phosphate balance when treating rickets; this is off-label in ADHR and individualized. Label focus: Secondary hyperparathyroidism in CKD; hypercalcemia risk and dosing guidance. FDA Access Data+1

10) Doxercalciferol (Hectorol®) — vitamin D analog (CKD label)
Why considered: Similar rationale as paricalcitol; off-label in ADHR as part of mineral management when needed and supervised. Label notes: Dose titration based on PTH/calcium/phosphorus. FDA Access Data+2FDA Access Data+2

11) Calcifediol ER (Rayaldee®)
Why considered: Another vitamin D form that may help maintain vitamin D status; off-label in ADHR and used cautiously with close labs to avoid hypercalcemia. Label: CKD stage 3–4 secondary hyperparathyroidism. FDA Access Data+1

12) Analgesic support (e.g., acetaminophen)
Use: For pain flares while bone heals; select agents that do not disturb kidneys/electrolytes. Choice and dosing are individualized; follow country-specific labels and clinician advice. (No ADHR-specific FDA label exists; supportive care.) PMC

13–20) Additional agents
In ADHR, there are no other FDA-approved disease-specific drugs. Clinicians sometimes adjust therapy with thiazide diuretics for hypercalciuria or phosphate binders in other settings, but these are not standard ADHR drugs and may worsen phosphate status if misused. Care is highly individualized by specialists. PMC

Bottom line: The core medical therapy for ADHR remains oral phosphate + calcitriol with iron repletion when iron-deficient, and surgery when needed for alignment or dental issues. Off-label options are considered case-by-case by experienced teams. PMC+1

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Dietary molecular supplements

1) Elemental iron (oral) — If iron is low, supervised oral iron (e.g., ferrous salts) can reduce FGF23 overactivity and improve phosphate handling in ADHR; dosing, schedule, and interactions (e.g., with calcium) are tailored to labs. Monitor ferritin and transferrin saturation. OUP Academic+1

2) Calcium (diet-first, then supplement only if prescribed) — Adequate calcium intake supports bone mineralization during rickets healing, but unsupervised calcium supplements can cause problems when combined with calcitriol; clinicians set target intakes and check urine calcium. PMC

3) Vitamin D3 (cholecalciferol) — Maintaining normal 25-OH vitamin D supports overall bone health; in ADHR, calcitriol usually provides the active effect, so routine D3 is adjunctive and lab-guided. PMC

4) Magnesium (if low) — Magnesium is a cofactor for vitamin D and parathyroid function; correcting deficiency can stabilize calcium/phosphate balance. Only supplement if lab-documented. PMC

5) Phosphate via diet — Emphasize foods with bioavailable phosphate (e.g., dairy, fish). Plant “phytate-bound” phosphate is less absorbed. Diet augments, but does not replace, medical phosphate. PMC

6) Protein adequacy — Sufficient protein supports muscle and bone repair during rehabilitation; individualized for kidney status and growth needs. PMC

7) Vitamin C with iron — Enhances iron absorption when taking oral iron; avoid taking iron with calcium at the same time. PMC

8) Omega-3 fatty acids (food first) — May help joints/muscles feel better during rehab; use as adjunct, not as treatment for phosphate wasting. PMC

9) Fluoride dental care products — Support enamel in patients prone to dental disease; coordinate with dentist. Nature

10) Probiotic/IBD-related supplements only if indicated — In patients with GI issues limiting absorption, clinicians may tailor supportive measures; not routine for ADHR. PMC

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Immunity-booster / Regenerative / Stem-cell drugs

There are no FDA-approved immune-booster, regenerative, or stem-cell drugs for ADHR. Using such products for ADHR would be unsupported and potentially unsafe. The disease mechanism is mineral wasting from FGF23, not immune failure, and proven therapy targets phosphate balance, active vitamin D, and iron when deficient. I cannot responsibly list drugs that imply approval for ADHR where none exists. PMC+1

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Surgeries

1) Temporary hemiepiphysiodesis (“guided growth”)
A small plate/screw temporarily tethers one side of a knee growth plate so the other side “catches up,” slowly straightening knock-knee or bow-leg in growing children. It’s minimally invasive, reversible, and often preferred when enough growth remains. Why: correct progressive deformity, improve gait, and prevent joint wear. PMC+1

2) Corrective osteotomy (acute or gradual)
When deformity is severe, multiplanar, or growth is nearly complete, surgeons cut and realign bone, then fix it with plates, nails, or external frames. Why: restore alignment, reduce pain, and improve mechanics when bracing/guided growth won’t suffice. PMC+1

3) Spinal procedures (rare, selected cases)
If longstanding deformities contribute to spinal issues or stenosis, spine specialists may decompress or stabilize affected segments. Why: relieve nerve compression and pain. Medscape

4) Dental surgery (abscess management, extractions, implants)
Dental abscesses can be frequent; procedures drain infection, remove non-restorable teeth, or place implants after bone is optimized. Why: prevent recurrent infection/pain and restore function. Medscape

5) Hardware removal after guided growth
Once alignment is corrected, the small plates/screws are removed to restore normal growth. Why: prevent over-correction and allow the limb to grow naturally. PMC

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Preventions

1. Screen relatives in affected families and monitor growth/legs early to treat promptly. Orpha

2. Avoid iron deficiency (diet + monitoring), especially during rapid growth, menstruation, pregnancy, or chronic blood loss. OUP Academic

3. Stay on scheduled labs (phosphate, calcium, PTH, urine calcium) to catch problems early. PMC

4. Use medicines exactly as prescribed; do not change phosphate/calcitriol without labs. PMC

5. Kidney-safety habits—adequate hydration and regular checks to reduce nephrocalcinosis risk on therapy. PMC

6. Dental prevention—fluoride, sealants, and early care to avoid abscesses. Nature

7. Fall prevention at home and school/work while bones are healing. PMC

8. Plan surgeries with the metabolic team so bone is optimized before and after procedures. Bioscientifica

9. Exercise smart—low-impact training and gradual progression to avoid stress injuries. PMC

10. Pregnancy planning—optimize iron and mineral status pre-conception with specialists. OUP Academic

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When to see doctors urgently

Seek care promptly for: worsening bone pain, new or progressive leg bowing/knock-knee, difficulty walking, repeated fractures, recurrent dental abscesses, severe muscle weakness, symptoms of high calcium (thirst, confusion) on calcitriol, or any signs of iron deficiency (fatigue, pallor) or IV iron reactions (shortness of breath, dizziness) during infusions. Ongoing follow-up with endocrinology/orthopedics/dentistry is essential for safe, effective care. PMC+1

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What to eat & what to avoid

What to eat:

• Iron-rich foods (meat, beans, lentils) with vitamin C sources to help absorption. OUP Academic

• Phosphate-containing, bioavailable foods like dairy, fish, and eggs to support bone mineralization alongside medical therapy. PMC

• Balanced calcium intake as advised, not excessive; pair with prescribed calcitriol. PMC

What to avoid (without medical guidance):

• Self-dosing high calcium or high phosphate supplements—these can cause dangerous lab swings on calcitriol or raise PTH if unbalanced. PMC

• Skipping iron therapy when deficient or taking iron with calcium at the same time (reduces iron absorption). PMC

• High-risk activities (contact sports) during active rickets or right after surgery until cleared. Medscape

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FAQs

1) How is ADHR different from “vitamin D deficiency” rickets?
ADHR is genetic phosphate loss from FGF23; vitamin D deficiency rickets is a nutritional problem. ADHR needs phosphate + active vitamin D and sometimes iron repletion, not just over-the-counter vitamin D. PMC

2) Can ADHR appear in adulthood?
Yes. Symptoms can start in childhood or adulthood, often after iron deficiency or major physiologic stress unmask the condition. OUP Academic

3) Does treating iron really help?
In documented ADHR, case series and mechanistic studies show iron repletion can reduce FGF23 activity and improve phosphate levels—sometimes allowing reduction or cessation of phosphate/calcitriol. OUP Academic+1

4) Is burosumab approved for ADHR?
No. It’s FDA-approved for XLH, not ADHR. Any ADHR use is off-label and specialist-guided with careful monitoring. FDA Access Data

5) Will my child need surgery?
Many children improve with early medical therapy; surgery is reserved for moderate/severe residual deformity or recurrence despite treatment. Guided growth is often used in growing kids; osteotomy is used near/after skeletal maturity. PMC+1

6) What labs are followed?
Serum phosphate, calcium, alkaline phosphatase, PTH, 25-OH vitamin D, urine calcium, and sometimes kidney ultrasounds to watch for nephrocalcinosis when on calcitriol/phosphate. PMC

7) Are there risks to calcitriol and phosphate therapy?
Yes—hypercalcemia, hypercalciuria, nephrocalcinosis, and secondary hyperparathyroidism if unbalanced; that’s why dosing is small, frequent, and lab-guided. FDA Access Data+1

8) What about dental problems?
Hypophosphatemic rickets often causes dental abscesses; prevention and early treatment with a dental team are part of standard care. Nature

9) Can ADHR go into remission?
Some people show improvement in phosphate levels over time, especially after iron sufficiency is restored; others need long-term therapy. OUP Academic

10) Are there lifestyle exercises I should avoid?
High-impact, twisting, or contact activities are limited during active rickets or post-op periods; transition to full activity is gradual and guided by your team. Medscape

11) Can pregnancy affect ADHR?
Yes—iron demands increase, so iron deficiency can unmask or worsen ADHR; plan and monitor closely with specialists. OUP Academic

12) Is ADHR common?
No, it’s rare; many clinicians follow XLH guidance for shared features, adapting care to ADHR’s iron-sensitivity. Nature

13) Will I need burosumab?
Not usually for ADHR; talk to a metabolic bone specialist if standard therapy fails or side effects limit dosing. Remember, burosumab is not FDA-approved for ADHR. FDA Access Data

14) Could IV iron lower phosphate?
Some IV formulations, especially ferric carboxymaltose, can cause transient hypophosphatemia; clinicians choose iron type/dose carefully in phosphate-wasting disorders. FDA Access Data

15) What’s the long-term outlook?
With early diagnosis, balanced medical therapy, iron management, and orthopedic/dental support, most patients improve bone pain, function, and alignment. Ongoing follow-up is essential. PMC

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

Last Updated: October 02, 2025.

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