Autosomal Dominant Hereditary Hypophosphatemic Rickets (ADHR)

Autosomal dominant hereditary hypophosphatemic rickets (ADHR) is a rare, inherited bone-mineral disorder caused by changes (mutations) in a hormone called FGF23. These mutations make FGF23 “overactive.” Overactive FGF23 tells the kidneys to waste phosphate in urine and to make less active vitamin D. Because phosphate is lost and active vitamin D is low, bones don’t mineralize properly. In children this shows up as rickets (soft, poorly mineralized growing bone). In adults it shows up as osteomalacia (soft bone), bone pain, and fractures. The “autosomal dominant” part means a single changed gene can cause disease and it can pass from an affected parent to a child (each child has a 50% chance). Orpha+1

A special and clinically important feature of ADHR is that iron status can switch the disease on or off. Iron deficiency increases intact (active) FGF23 and can trigger new symptoms in teenagers or adults who were fine as children, or worsen ongoing symptoms. Correcting iron deficiency can improve the hypophosphatemia in some patients. This “iron–FGF23 link” is a key clue that helps separate ADHR from other forms of hypophosphatemic rickets. PNAS+1

Other names

Doctors and references may also use: ADHR, FGF23-related hypophosphatemic rickets (autosomal dominant), autosomal dominant phosphate-wasting rickets, and FGF23 gain-of-function rickets. All point to the same disease mechanism—mutations in FGF23 that prevent the hormone from being cut/inactivated, so more intact FGF23 circulates and causes phosphate wasting. MedlinePlus+1

Types

Because ADHR is defined by its FGF23 mutation, there is only one genetic “type,” but clinicians find it practical to group patients by how and when they present:

1) Childhood-onset ADHR. Children present with rickets: bowed legs, enlarged wrists/ankles, delayed walking, short stature, and dental problems. Lab tests show low phosphate, inappropriately low/normal 1,25-dihydroxyvitamin D, and elevated or inappropriately normal FGF23. PMC+1

2) Delayed/adult-onset ADHR. Some people are well through childhood and then develop bone pain, stress fractures, muscle weakness, or height loss in adolescence or adulthood—often during or after periods of iron deficiency (e.g., rapid growth, menstruation, pregnancy, or chronic blood loss). Treating iron deficiency can improve phosphate levels and symptoms. PNAS+1

3) Intermittent/iron-responsive ADHR. Symptoms and lab abnormalities fluctuate with iron status: worse when iron is low, better when iron is replete. This pattern is highly suggestive of ADHR among the phosphate-wasting disorders. PNAS

Causes

Strictly speaking, the primary cause of ADHR is one thing: a pathogenic FGF23 mutation that makes the hormone resistant to normal cleavage (inactivation). Below are 20 cause-level or driver-level items that either (a) directly cause ADHR, (b) are specific, known disease-causing variants/mechanisms within ADHR, or (c) are proven biologic triggers/modifiers that “activate” or worsen the ADHR phenotype. Where relevant, I also list important look-alike causes of hypophosphatemic rickets you must rule out so you don’t miss ADHR.

1) Pathogenic mutations in FGF23 (core cause). ADHR results from missense variants near the RXXR cleavage site (e.g., R176Q, R179W, R179Q, R179L) that prevent FGF23 from being cut/inactivated. Active FGF23 rises, and the kidney wastes phosphate. PubMed+1

2) Increased intact FGF23 due to proteolysis resistance. The specific biochemical consequence of those variants is protease resistance—more intact FGF23 circulates and drives phosphate loss. PubMed

3) Iron deficiency as a disease trigger. Iron deficiency amplifies intact FGF23 and reveals or worsens ADHR—sometimes the first presentation is in teens or adults when iron becomes low. PNAS

4) Growth spurts/adolescence with latent iron deficiency. Rapid growth can unmask low iron and precipitate symptomatic ADHR. PNAS

5) Menstruation-related iron loss. Heavy periods can induce iron deficiency and activate ADHR physiology. PNAS

6) Pregnancy/post-partum states with iron deficiency. Increased iron demand can worsen phosphate wasting in ADHR; iron repletion can help. PubMed

7) Chronic gastrointestinal blood loss (e.g., ulcers). Sustained iron loss → higher intact FGF23 → ADHR worsening. PNAS

8) Dietary iron deficiency. Low intake can maintain the “on” state of ADHR. PNAS

9) Inflammation/illness affecting iron handling. Inflammatory states can alter FGF23 processing and iron availability, aggravating ADHR features. PMC

10) Genetic background/penetrance effects. ADHR shows variable penetrance: some carriers are minimally affected until a trigger (often iron deficiency) appears. PNAS

11) Reduced renal reabsorption of phosphate via NaPi-IIa/IIc down-regulation. The kidney transporters are suppressed by FGF23; this is the mechanism behind phosphate wasting. PMC

12) Suppressed 1,25-dihydroxyvitamin D synthesis. FGF23 reduces 1α-hydroxylase activity, so active vitamin D stays inappropriately low/normal, worsening mineralization. PMC

13) Family history with autosomal dominant transmission. Affected parent → affected child risk ~50%; vertical transmission is a cause-level clue to ADHR rather than the X-linked or recessive forms. Orpha

14) Coexisting vitamin D deficiency (compounding factor). Not causal for ADHR, but if present it further impairs mineralization and must be corrected. PMC

15) Misdiagnosis leading to delayed treatment. Unrecognized ADHR allows prolonged phosphate wasting and worsening rickets/osteomalacia (a practical, preventable driver of severity). PMC

16) Medication exposures that elevate FGF23 (differential to rule out). For example ferric carboxymaltose, tenofovir, or adefovir can cause FGF23-mediated hypophosphatemia; these are not ADHR but can mimic it. NCBI

17) X-linked hypophosphatemia (XLH; PHEX) (differential). The most common genetic cause of hypophosphatemic rickets; must be excluded when evaluating phosphate-wasting rickets. Not ADHR. Frontiers

18) Autosomal recessive hypophosphatemic rickets (ARHR: DMP1, ENPP1, FAM20C) (differential). Similar phenotype but different genes and inheritance. MSD Manuals

19) Hereditary hypophosphatemic rickets with hypercalciuria (HHRH; SLC34A3) (differential). Typically low FGF23 and high 1,25D with hypercalciuria; different treatment. PMC

20) Tumor-induced osteomalacia (TIO) (acquired differential). Small FGF23-secreting tumors cause severe phosphate wasting; important to exclude in adults with new osteomalacia. OUP Academic

Symptoms and signs

1) Bowed legs/knock knees (genu varum/valgum). Growing bone is soft, so leg alignment changes under body weight. This is typical in childhood rickets from phosphate wasting. PMC

2) Delayed walking and motor milestones. Weak, poorly mineralized bone and sore muscles delay standing and walking. PMC

3) Enlarged wrists/ankles and costochondral “rachitic rosary.” Growth plates widen because bone can’t mineralize properly. PMC

4) Short stature or slow growth. Children often fall off their growth curves, especially for leg length. OUP Academic

5) Bone pain and tenderness. From micro-fractures and unmineralized osteoid in rickets/osteomalacia. PMC

6) Muscle weakness and fatigue. Low phosphate affects muscle energy (ATP) and contributes to fatigue. PMC

7) Waddling gait. Hip and leg deformities with weakness cause characteristic gait changes. PMC

8) Dental problems (abscesses, enamel defects). Poor mineralization extends to teeth; spontaneous dental abscesses can occur. OUP Academic

9) Craniosynostosis or skull shape changes. Some children develop early closure of skull sutures or frontal bossing. OUP Academic

10) Stress fractures/pseudofractures in adolescents/adults. Soft bone cracks with normal activity; adult ADHR may present this way. MDPI

11) Height loss or vertebral compression in adults. From long-standing osteomalacia and micro-fractures. PMC

12) Hip/knee pain and reduced mobility. Mechanical strain over deformed, undermineralized bone. PMC

13) Bone deformities that persist after healing. Long-standing rickets can leave residual limb deformities even after labs normalize. PMC

14) Late presentation after normal childhood. A hallmark of ADHR is adult-onset symptoms during iron deficiency—unique among the hereditary forms. PNAS

15) Family history positive in an autosomal dominant pattern. Multiple generations with similar skeletal problems or short stature can be present. Orpha

Diagnostic tests

A) Physical examination ( tests/assessments)

1) Growth measurements (height/weight/leg length). Look for short stature and disproportionately short legs—typical in hypophosphatemic rickets. Track over time. OUP Academic

2) Skeletal inspection for rickets signs. Bowing of legs, widened wrists/ankles, rachitic rosary, chest deformities, and gait assessment. These bedside clues guide lab and imaging work-up. PMC

3) Dental and craniofacial exam. Check for dental abscesses, enamel defects, and skull shape changes; these help flag phosphate-wasting rickets. OUP Academic

4) Family pedigree assessment. A three-generation family tree can reveal autosomal dominant transmission and guide targeted genetic testing. Orpha

B) “Manual” bedside/in-clinic functional checks 

5) Gait analysis (waddling/limp). Simple walking observation documents functional impact of lower-limb deformities and weakness. PMC

6) Musculoskeletal palpation and range-of-motion tests. Localizes bone tenderness and joint limitations from deformities or pseudofractures. PMC

7) Orthopedic alignment measures (inter-condylar/inter-malleolar distance). Quantifies genu varum/valgum severity and tracks response to treatment. PMC

8) Dental percussion/exam for occult abscesses. Identifies dental complications that are common in phosphate-wasting rickets and need early dental care. OUP Academic

C) Laboratory & pathological tests 

9) Serum phosphate (low). The key biochemical hallmark. Persistently low phosphate for age suggests renal phosphate wasting when kidney function is normal. PMC

10) Serum calcium (often normal). Helps distinguish from classic vitamin D deficiency rickets, where calcium can be low; in ADHR calcium is usually normal. PMC

11) Alkaline phosphatase (elevated for age). Reflects high bone turnover in rickets/osteomalacia; an expected marker in active disease. PMC

12) PTH (normal or mildly high). In ADHR, PTH is not the driver; marked secondary hyperparathyroidism suggests other/compound problems. PMC

13) 25-hydroxyvitamin D (usually normal). Rules out nutritional D deficiency rickets, which can mimic the x-ray appearance. E-Apem

14) 1,25-dihydroxyvitamin D (inappropriately normal/low). In phosphate-wasting disorders, FGF23 suppresses this active hormone; the level is not elevated despite hypophosphatemia. PMC

15) Urine phosphate and % tubular reabsorption of phosphate (TRP) or TmP/GFR. These calculations show that the kidney is losing phosphate and help quantify renal handling. PMC+1

16) FGF23 (intact assay). Elevated or inappropriately normal intact FGF23 supports an FGF23-mediated cause (like ADHR or XLH) versus other causes such as HHRH (low FGF23). PMC

17) Iron studies (ferritin, transferrin saturation). Low iron supports ADHR and explains disease flares; repletion can improve labs and symptoms. PNAS

18) Genetic testing of FGF23. Identification of a pathogenic variant (e.g., R176Q or R179W) confirms ADHR and distinguishes it from XLH (PHEX) or ARHR (DMP1/ENPP1/FAM20C). MedlinePlus+1

D) Electrodiagnostic tests 

19) Electromyography (EMG) when weakness seems disproportionate. In severe hypophosphatemia, EMG can show myopathic patterns; it’s not required for diagnosis but can clarify neuromuscular complaints. PMC

20) ECG if severe electrolyte imbalance is suspected. Marked hypophosphatemia can rarely associate with arrhythmias; again, not routine in stable chronic ADHR, but prudent in acute/severe states. PMC

E) Imaging 

21) Plain x-rays of wrists, knees, and long bones. Show classic rickets signs in kids (widened, cupped, frayed metaphyses) and Looser zones/pseudofractures in adults. Imaging also grades deformity. PMC

22) Standing long-leg alignment films. Quantify mechanical axis deviation and plan orthopedic care if needed. PMC

23) Skull x-ray/CT if craniosynostosis suspected. Early suture fusion or skull shape change may be present and requires timely referral. OUP Academic

24) Dental panoramic film. Documents abscesses and enamel anomalies; improves coordination between endocrinology and dentistry. OUP Academic

25) Bone densitometry (DXA) for adults. Helpful to monitor osteomalacia recovery; interpret carefully because osteomalacia and skeletal deformities can affect readings. PMC

Non-pharmacological treatments (therapies & others)

1. Education & care plan
   A simple, written plan helps families understand the condition, medicines, lab targets, side-effects, and what to do if pain or fractures occur. Clear instructions improve adherence to frequent phosphate dosing and monitoring (phosphate, calcium, PTH, kidney ultrasound). Purpose: empower day-to-day management. Mechanism: improves adherence and early response to problems, which reduces complications. PMC

2. Nutrition counseling (phosphate-friendly diet)
   Diet can’t cure ADHR, but regular intake of phosphate-containing foods (dairy, legumes, meats) supports therapy. Counsel to avoid very high phosphate “boluses” from processed foods and to separate dietary calcium from phosphate doses if advised. Purpose: gentle diet support without causing calcium-phosphate imbalance. Mechanism: improves steady substrate availability while medications handle the main deficit. OUP Academic

3. Iron repletion via diet where appropriate
   If iron deficiency contributed to disease expression, diet rich in iron (meat, legumes) and vitamin-C co-intake for absorption complements medical iron therapy. Purpose: sustain normal iron stores. Mechanism: adequate iron helps normalize FGF23 processing, easing phosphate loss. PMC

4. Physiotherapy for strength and alignment
   Targeted exercises improve muscle strength, joint range, and gait, easing pain and lowering fall risk. Programs are individualized with low-impact strengthening and posture correction. Purpose: better function and less pain. Mechanism: stronger muscles reduce mechanical stress on softened bone and improve mobility. PMC

5. Occupational therapy (OT) & assistive devices
   OT analyzes home/school tasks and recommends aids (orthotics, supportive footwear, bathroom rails) to keep the child or adult safe and independent. Purpose: maintain daily function. Mechanism: task modification lowers load on painful limbs and reduces fracture risk. PMC

6. Orthotic bracing during growth
   For children with leg bowing or knock-knees, braces can guide alignment while medical therapy hardens bone, potentially reducing the need or extent of surgery. Purpose: correct deformity early. Mechanism: redistributes forces to promote straighter growth trajectories. PMC

7. Dental preventive care
   Early and frequent dental care (sealing, abscess prevention, endodontic care) addresses the high risk of dental abscesses in hypophosphatemic rickets. Purpose: prevent infections and tooth loss. Mechanism: treats dentin defects early, reducing abscesses seen in phosphate-wasting rickets. PMC

8. Fracture prevention & fall-proofing
   Home safety (good lighting, non-slip rugs), protective gear during sports, and graded activity plans reduce falls and stress fractures while bones remineralize. Purpose: fewer injuries. Mechanism: lowers mechanical insults to softened bone. PMC

9. Pain management plan (non-drug strategies)
   Heat/cold therapy, pacing, sleep optimization, and CBT-style strategies reduce chronic pain’s impact. Purpose: improve quality of life. Mechanism: multimodal pain coping decreases central sensitization and activity avoidance. PMC

10. Sun-safe vitamin-D habits (with labs)
    Safe daylight exposure plus routine monitoring of 25-OH vitamin D supports bone health, while avoiding excessive, unsupervised supplementation. Purpose: support mineral balance. Mechanism: adequate vitamin D status helps intestinal absorption and complements active vitamin-D therapy. OUP Academic

11. Regular renal ultrasound surveillance
    Because conventional therapy can promote nephrocalcinosis if overdosed, periodic kidney ultrasound and labs guide dose adjustments. Purpose: protect kidneys. Mechanism: early detection of calcifications prompts therapy changes. PMC

12. School and workplace accommodations
    Rest breaks, flexible physical education, ergonomic seating, and lift assistance can keep participation high with less pain. Purpose: preserve participation. Mechanism: reduces repetitive stress on healing bone. PMC

13. Genetic counseling for families
    Explains autosomal-dominant inheritance (50% transmission risk), testing options, and family planning. Purpose: informed decisions. Mechanism: clarifies risk and timing for testing children and relatives. Orpha

14. Pregnancy planning & coordination
    Pre-conception review of labs and medicines ensures safe dosing and monitoring during pregnancy and lactation, when calcium/phosphate needs change. Purpose: maternal-fetal safety. Mechanism: anticipates dose changes and imaging limits. PMC

15. Activity modification & graded return to sport
    Low-impact, weight-bearing progression (e.g., walking, swimming) is preferred until bone strength recovers. Purpose: avoid setbacks. Mechanism: builds muscle without overloading weak bone. PMC

16. Orthopedic follow-up during growth
    Routine checks allow timely decisions about guided growth or osteotomy if deformity progresses despite medical therapy. Purpose: optimal alignment. Mechanism: early surgical timing improves long-term function. PMC

17. Structured adherence supports (reminders, pill boxes)
    Multiple daily phosphate doses are hard; simple tools and reminder apps help patients keep to the schedule. Purpose: better adherence. Mechanism: steadier phosphate levels improve outcomes. PMC

18. Weight-bearing adequacy with dietitian input
    Ensure calories and protein are sufficient for catch-up growth and fracture healing; malnutrition worsens bone healing. Purpose: optimize recovery. Mechanism: provides substrate for bone matrix remodeling. PMC

19. Avoidance of triggers that worsen hypophosphatemia
    If IV iron is needed, avoid ferric carboxymaltose where possible because it can induce or worsen hypophosphatemia via FGF23 effects; choose alternatives and monitor phosphate closely. Purpose: prevent setbacks. Mechanism: sidestep drug-induced FGF23 spikes. PMC+1

20. Psychosocial support
    Chronic pain, short stature, and repeated procedures affect mood and social life; counseling or support groups can help. Purpose: mental well-being. Mechanism: improves coping and treatment engagement. PMC

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Drug treatments

Important: Below are evidence-based options used in FGF23-mediated hypophosphatemia. Only a few have FDA labeling directly relevant to phosphate balance; none are specifically labeled for ADHR. Where FDA labels exist, I cite them; where a medicine is used for ADHR, that use is typically off-label and specialist-guided.

1. Oral phosphate salts (e.g., sodium/potassium phosphate; K-Phos Neutral)
   Class: oral phosphate replacement. Dose/Time: commonly 20–60 mg/kg/day elemental phosphorus divided 3–5 times daily; exact product dosing per label (e.g., K-Phos Neutral has tablet-specific directions). Purpose: replace urinary phosphate losses. Mechanism: raises serum phosphate to support bone mineralization. Side effects: GI upset, secondary hyperparathyroidism if given without active vitamin-D, nephrocalcinosis risk if overdosed—monitor labs and kidneys. Label note: outpatient oral phosphate products may be labeled as supplements or prescription tablets; inpatient IV phosphate products are FDA-labeled to treat hypophosphatemia when oral/enteral replacement is not possible. ADHR use: off-label but standard of care. OUP Academic+2DailyMed+2

2. Calcitriol (Rocaltrol®)
   Class: active vitamin-D (1,25-dihydroxyvitamin D₃). Dose/Time: typically split once–twice daily and titrated; label strengths 0.25–0.5 mcg capsules/solution (individualize). Purpose: increase intestinal calcium/phosphate absorption, suppress PTH, and synergize with phosphate therapy. Mechanism: bypasses impaired activation and counters FGF23’s effect on vitamin-D metabolism. Side effects: hypercalcemia, hypercalciuria—requires close monitoring. Label note: FDA-approved for conditions like hypocalcemia in CKD and postsurgical hypoparathyroidism; use in ADHR is off-label but widely recommended in FGF23-mediated rickets. FDA Access Data+1

3. Calcifediol ER (Rayaldee®)
   Class: 25-hydroxyvitamin D₃ (extended-release). Dose/Time: labeled 30 mcg capsules with specific titration for CKD stage 3–4 SHPT; dosing/monitoring per label. Purpose/Mechanism: corrects vitamin-D insufficiency and helps control PTH; in ADHR, any use would be off-label and individualized. Side effects: hypercalcemia risk, drug–drug interactions (e.g., bile acid sequestrants). FDA Access Data

4. Burosumab (Crysvita®)
   Class: monoclonal antibody against FGF23. Dose/Time: subcutaneous, weight-based schedules; labeling instructs to stop oral phosphate and active vitamin-D one week before starting in labeled indications. Purpose/Mechanism: neutralizes FGF23, increases renal phosphate reabsorption, and raises 1,25-(OH)₂D. Side effects: injection-site reactions, headache, hypersensitivity; requires phosphorus monitoring. Label note: FDA-approved for XLH and tumor-induced osteomalacia, not for ADHR; any ADHR use is off-label and specialist-driven. FDA Access Data+1

5. Intravenous phosphate (hospital use)
   Class: parenteral phosphate (e.g., potassium phosphates injection). Dose/Time: label-guided dosing in severe/symptomatic hypophosphatemia or when oral is impossible; avoid mixing with calcium-containing solutions; monitor for hyperkalemia, hypocalcemia. Purpose/Mechanism: acute correction of low phosphate. ADHR use: only for urgent correction under monitoring; long-term therapy is oral. FDA Access Data+1

6. Iron therapies when iron deficient
   Class: iron replacement (e.g., iron sucrose [Venofer®], ferric maltol [Accrufer®]). Dose/Time: per label and clinical status (oral vs IV). Purpose/Mechanism: correct iron deficiency that can drive FGF23 dysregulation in ADHR. Safety note: ferric carboxymaltose (Injectafer®) can itself cause hypophosphatemia—avoid in phosphate-wasting disorders if alternatives exist. ADHR use: iron is for iron deficiency, not ADHR per se, but treating iron deficiency may improve ADHR control. PMC+3FDA Access Data+3FDA Access Data+3

Why not 20 drugs?
There are not 20 distinct FDA-labeled drugs for ADHR. The proven medication strategy is phosphate + active vitamin-D, iron repletion when deficient, and consideration of burosumab off-label in expert centers. Listing 20 would force low-quality or misleading entries, so I’ve stayed accurate and safe. PMC+1

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Dietary molecular supplements

Supplements can support medical therapy but do not replace phosphate/active vitamin-D. Always coordinate with your clinician to avoid calcium-phosphate complications.

1. Elemental phosphorus (as prescribed tablets) — supports serum phosphate; follow product-specific dosing; mechanism: replenishes phosphate substrate for mineralization. DailyMed

2. Cholecalciferol (vitamin D₃) — only to maintain normal 25-OH-D if low; typical maintenance doses vary; mechanism: ensures substrate for calcitriol pathways; monitor calcium/phosphate. PMC

3. Calcium (food first; supplemental only if prescribed) — small, clinician-directed amounts may be used; mechanism: supports bone mineral balance; excessive calcium can promote nephrocalcinosis—monitor. PMC

4. Iron (oral, if deficient) — dose per iron product label; mechanism: restores iron to reduce FGF23 overactivity; avoid ferric carboxymaltose if possible. FDA Access Data+1

5. Magnesium (if low) — lab-guided; mechanism: cofactor in vitamin-D and PTH pathways; excess can cause GI upset. PMC

6. Protein optimization — dietetic plan rather than pills; mechanism: provides amino acids for osteoid matrix; avoid extreme high-phosphate processed foods. OUP Academic

7. Vitamin C with iron — improves non-heme iron absorption; mechanism: reduces Fe³⁺ to Fe²⁺ in gut; dose per nutritionist advice. PMC

8. Omega-3 (optional) — general anti-inflammatory support; mechanism: membrane effects; no ADHR-specific outcome data—use prudently. PMC

9. B-complex (if dietary deficiency) — supports marrow and general health; no direct ADHR effect; avoid megadoses. PMC

10. Phosphate-containing foods — regular dietary intake aligned with therapy; mechanism: background support without spikes. OUP Academic

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Immunity-booster / regenerative / stem-cell drugs

There are no FDA-approved “immunity boosters,” regenerative drugs, or stem-cell drugs for ADHR. Using such products for ADHR would be unsubstantiated and potentially unsafe. Current FDA-approved, mechanism-based biologic therapy that targets FGF23 is burosumab, but it is not labeled for ADHR (only for XLH and tumor-induced osteomalacia). Any consideration of burosumab in ADHR is off-label and specialist-driven. FDA Access Data

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Surgeries (what’s done and why)

1. Guided growth (hemiepiphysiodesis) — temporary growth-plate tethering to correct angular deformities during growth; why: align legs gradually while bones harden under medical therapy. PMC

2. Corrective osteotomy — bone cutting and realignment for severe deformity in adolescents/adults; why: restore alignment, reduce pain, and improve gait when bracing and growth guidance are insufficient. PMC

3. Fracture fixation — internal fixation of stress or traumatic fractures that don’t heal with conservative measures; why: stabilize soft bone to allow healing. PMC

4. Dental surgeries (endodontic/apicoectomy) — treat recurrent abscesses due to dentin defects; why: preserve teeth and stop infections. PMC

5. Deformity revision — staged or repeat osteotomies when deformities recur or progress; why: maintain function and reduce pain across adulthood. PMC

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Prevention tips

1. Keep to phosphate + calcitriol schedules; don’t self-adjust. PMC

2. Monitor labs regularly (phosphate, calcium, PTH, 25-OH-D, urine studies). OUP Academic

3. Treat iron deficiency promptly; avoid ferric carboxymaltose if alternatives exist. PMC+1

4. Dental checkups and preventive care to avoid abscesses. PMC

5. Kidney surveillance (ultrasound) to detect nephrocalcinosis early. PMC

6. Bracing/physio during growth to limit deformity. PMC

7. Safe activity plans to limit falls and stress fractures. PMC

8. Maintain adequate vitamin-D status (guided by labs). PMC

9. Genetic counseling for family screening and planning. Orpha

10. Coordinate pregnancy care with specialists early. PMC

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When to see a doctor

Seek urgent medical advice for worsening bone pain, new limp, suspected fracture, severe muscle weakness, or dental abscess, and for any symptoms of high calcium (nausea, vomiting, confusion) during therapy. Routine follow-up is essential for dose titration, growth monitoring, kidney checks, and lab review, especially after starting or changing phosphate, calcitriol, iron, or (off-label) burosumab. PMC+1

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What to eat / what to avoid

• Eat regularly: dairy, legumes, lean meats for steady phosphate and protein (with clinician oversight). OUP Academic

• Include iron-rich foods (plus vitamin-C sources) if iron was low. PMC

• Hydrate well unless restricted, to support kidney health. PMC

• Don’t megadose calcium or vitamin-D without labs and orders. PMC

• Limit highly processed foods with large phosphate additives that cause spikes. OUP Academic

• Time supplements as your clinician advises (e.g., separating calcium from phosphate). OUP Academic

• Moderate caffeine if told to (diuresis can affect mineral handling). PMC

• Avoid alcohol excess, which harms bone health. PMC

• Keep protein adequate to aid bone matrix repair. PMC

• Avoid unsupervised “bone boosters” or “stem-cell” supplements—no evidence in ADHR. FDA Access Data

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Frequently asked questions

1. Is ADHR the same as XLH?
   No. Both waste phosphate, but ADHR is autosomal-dominant FGF23 mutation; XLH is X-linked PHEX mutation. Management principles overlap, but genetics and some responses differ. Orpha

2. Can ADHR start in adulthood?
   Yes. It can appear in childhood or later, and iron deficiency may trigger adult-onset symptoms. PMC

3. Why are my doses split many times a day?
   Phosphate levels fall quickly; splitting doses keeps levels steadier and safer. OUP Academic

4. Do I need calcitriol if I take phosphate?
   Usually yes—phosphate alone is inappropriate and can cause serious PTH spikes; active vitamin-D is paired with phosphate. OUP Academic

5. Will iron pills help my bones?
   If you’re iron-deficient, fixing iron can lower FGF23 activity and improve phosphate handling. It doesn’t replace phosphate/active vitamin-D. PMC

6. Is burosumab for me?
   Burosumab is FDA-approved for XLH and tumor-induced osteomalacia, not ADHR. Any use in ADHR is off-label and specialist-guided. FDA Access Data

7. Can IV iron make things worse?
   Ferric carboxymaltose can cause hypophosphatemia; discuss safer alternatives and monitor phosphate closely if IV iron is needed. FDA Access Data

8. How often are labs checked?
   Often at the start (every few weeks) then spaced out when stable; exact timing depends on age, growth, symptoms, and therapy. PMC

9. What about my kidneys?
   Monitoring aims to avoid nephrocalcinosis from overtreatment. Ultrasound plus labs guide safe dosing. PMC

10. Will I need surgery?
    Sometimes—for deformities or fractures not controlled conservatively. Medical therapy reduces the severity and frequency of surgery. PMC

11. What’s the goal of treatment?
    Heal rickets/osteomalacia, reduce pain, support growth/function, and prevent complications. PMC

12. Is there a cure?
    There’s no gene fix yet; long-term management and, in select cases, off-label burosumab targeting the pathway can control disease. FDA Access Data

13. Can diet alone fix ADHR?
    No. Diet supports care, but medications are central. PMC

14. Should family members get tested?
    Yes—autosomal-dominant inheritance means a 50% risk for first-degree relatives; discuss genetic counseling/testing. Orpha

15. What’s the biggest mistake to avoid?
    Self-adjusting phosphate/vitamin-D or receiving ferric carboxymaltose without phosphate monitoring. Stay in regular specialist care. OUP Academic+1

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: October 02, 2025.

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