Autosomal Dominant Hypophosphatemia

Autosomal dominant hypophosphatemia is a rare, inherited problem where the body loses too much phosphate in the urine. Phosphate is a mineral your bones and muscles need. In this condition, a hormone called FGF23 is too strong or lasts too long, so the kidneys do not hold on to phosphate and also make less active vitamin D. As a result, the blood phosphate level stays low, bones do not mineralize well (soft bones), and people can develop bowed legs, bone pain, fractures, and dental issues. Because the inheritance is autosomal dominant, a person needs only one changed copy of the gene to be affected, and the condition can appear in childhood or first show up in adulthood. The most common cause is a change in the FGF23 gene that makes the hormone harder to break down, so its effect persists and keeps phosphate low. OUP Academic+1

Autosomal dominant hypophosphatemia (ADHR) is a very rare genetic disorder where the kidneys waste phosphate, causing low blood phosphate and soft, weak bones (rickets in children; osteomalacia in adults). It is “autosomal dominant,” meaning one altered gene copy is enough to cause the condition, and both males and females can be affected. Typical features include bone pain, bowed legs or knock knees, short stature, fatigue, and frequent dental abscesses even without obvious tooth decay. NCBI+2PMC+2

ADHR is caused by specific mutations in the FGF23 gene. FGF23 is a hormone made by bone cells that tells the kidneys to spill phosphate and to make less active vitamin D. In ADHR, missense changes near the protein’s normal “cleavage” site make FGF23 unusually stable and overactive, so too much phosphate is lost in urine and blood phosphate falls. NCBI+2PubMed+2

ADHR can appear in childhood or adulthood and sometimes fluctuates over time. In some people, phosphate wasting improves later in life; in others, it worsens during periods of iron deficiency, which boosts FGF23 activity and triggers symptoms. That link means correcting iron deficiency can meaningfully improve the disease in some patients. PMC+2PubMed+2

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Other names

Autosomal dominant hypophosphatemic rickets (ADHR); autosomal dominant hypophosphatemia; FGF23-mediated hypophosphatemic rickets (autosomal dominant type). All of these names point to the same disorder: inappropriately high biologically active FGF23 causing kidney phosphate wasting. OUP Academic

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Types

1. By age at presentation. Some people show signs in early childhood (rickets, bowed legs), while others have delayed or adult-onset bone pain or stress fractures. The timing can vary even within the same family. OUP Academic
2. By activity over time. The disease can be relapsing–remitting. Periods of worse symptoms can be triggered by iron deficiency or pregnancy; symptoms may ease when iron status is corrected. PubMed+1
3. By biochemical profile. All forms show low serum phosphate with inappropriately high or normal-high intact FGF23, reduced renal phosphate reabsorption, and often normal calcium and parathyroid hormone. Active vitamin D (1,25-dihydroxyvitamin D) is inappropriately low-normal for the degree of hypophosphatemia. OUP Academic+1

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Causes

1. FGF23 gene mutations (core cause). Small changes at the FGF23 “cleavage” site make the hormone resistant to breakdown, so more intact FGF23 stays in the blood and drives phosphate loss. PubMed+1

2. Autosomal dominant inheritance. One changed FGF23 copy from an affected parent can transmit the disorder to children, regardless of sex. OUP Academic

3. Iron deficiency (trigger). Low iron stimulates FGF23 production; in ADHR the abnormal FGF23 cannot be cleaved, so intact FGF23 rises and hypophosphatemia worsens. Correcting iron can improve phosphate levels. PubMed+1

4. Pregnancy-related iron deficiency. Pregnancy can lower iron stores and precipitate symptomatic hypophosphatemia or bone pain in adults with ADHR. Nature

5. Acute or chronic blood loss. Blood loss depletes iron and can unmask or worsen ADHR activity. Nature

6. Poor dietary iron intake. Inadequate iron intake keeps FGF23 in a high, biologically active state in ADHR. Nature

7. Inflammation-related iron sequestration. Chronic inflammation can trap iron in storage, creating functional iron deficiency that flares ADHR. Nature

8. Post-infectious states affecting iron balance. Illness that lowers iron can increase intact FGF23 activity in ADHR. Nature

9. Concomitant causes of phosphate wasting (differential). Disorders like tumor-induced osteomalacia also raise FGF23 and cause phosphate loss; these are not ADHR but can confuse the picture and must be ruled out. New England Journal of Medicine

10. Medications that affect FGF23 biology (context). Some IV iron types (e.g., ferric carboxymaltose) can transiently raise FGF23 and cause hypophosphatemia; in ADHR this may worsen biochemical abnormalities. Nature

11. Low phosphate diet (aggravating factor). While not a cause of ADHR, low intake may deepen hypophosphatemia in someone with ADHR. PMC

12. Vitamin D deficiency (co-factor). Low 25-hydroxyvitamin D can worsen bone mineralization on top of phosphate wasting. PMC

13. High PTH from secondary causes. If present, it can increase urinary phosphate excretion further; clinicians check and treat contributors. PMC

14. Renal tubular stress. Any condition that stresses proximal tubules may exacerbate phosphate loss already driven by FGF23. PMC

15. Rapid growth in childhood. Growth increases phosphate demand and can unmask rickets in ADHR kids. OUP Academic

16. Weight-bearing athletic activity with low phosphate. Can precipitate stress fractures in adults with unrecognized ADHR. OUP Academic

17. Concurrent hypomagnesemia. Rarely, low magnesium can impair PTH/vitamin D balance and aggravate bone symptoms. PMC

18. Genetic background. Differences in other bone/mineral genes may modify severity and age of onset in families. OUP Academic

19. Delayed diagnosis. Prolonged low phosphate leads to cumulative skeletal damage; early recognition prevents worsening. PMC

20. Inappropriate therapy (e.g., phosphate binders for other reasons). These can lower serum phosphate further if used inadvertently. PMC

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Symptoms

1. Bone pain. Dull, aching pain in legs, hips, ribs, or back due to soft bone (osteomalacia) and micro-fractures. OUP Academic

2. Muscle weakness and fatigue. Low phosphate reduces muscle energy, causing weakness, tiredness, and poor exercise tolerance. PMC

3. Bowed legs or knock knees (children). Poor mineralization around growth plates leads to rickets and limb deformities. OUP Academic

4. Short stature or slow growth (children). Chronic rickets can limit height gain. OUP Academic

5. Delayed walking or waddling gait. Hip and leg bone pain plus weakness alter gait mechanics. OUP Academic

6. Frequent fractures or stress fractures (adults). Soft bone breaks more easily, often in feet, tibia, femoral neck, or ribs. OUP Academic

7. Dental problems. Enamel defects, tooth abscesses without obvious cavities, and early dental decay can occur. OUP Academic

8. Bone tenderness. Pressure over shins or ribs may hurt due to osteomalacia. PMC

9. Joint pain or stiffness. Malalignment and soft bone stress the joints. OUP Academic

10. Fatigue out of proportion to activity. Energy systems depend on phosphate; low levels impair ATP use. PMC

11. Foot pain with walking. Metatarsal stress fractures are common in untreated hypophosphatemia. OUP Academic

12. Headaches. Non-specific but reported with skeletal pain syndromes. OUP Academic

13. Height loss in adults (from vertebral insufficiency fractures). Soft trabecular bone can compress. OUP Academic

14. Worsening during pregnancy or after major blood loss. Iron depletion can reactivate disease in adults. PubMed+1

15. Limited mobility and reduced quality of life. Pain, deformity, and weakness make daily tasks harder. OUP Academic

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Diagnostic tests

A) Physical examination

1. Limb alignment assessment. The clinician looks for bowed legs or knock knees and measures angles to judge severity of rickets or residual deformity. OUP Academic

2. Gait analysis. Waddling gait or antalgic (pain-avoiding) gait suggests hip or long-bone pain from osteomalacia. OUP Academic

3. Growth and body measurements. In children, height, weight, and sitting height are plotted to detect growth failure. OUP Academic

4. Bone and muscle tenderness. Palpation of shins, ribs, and pelvis helps localize symptomatic areas. PMC

5. Dental examination. Inspection for enamel defects and spontaneous abscesses supports a phosphate-wasting rickets picture. OUP Academic

B) “Manual” clinical tests and bedside maneuvers

6. Range-of-motion testing. Restricted hip or knee motion suggests deformity or pain guarding. OUP Academic

7. Manual muscle strength testing (MRC scale). Identifies proximal muscle weakness seen with phosphate depletion. PMC

8. Lower-limb axis measurement (tape/goniometer). Tracks deformity progression or improvement during therapy. OUP Academic

9. Functional walk tests (e.g., 6-minute walk). Document exercise limitation and monitor change with treatment. Nature

10. Dental percussion/sensitivity testing. Detects subclinical dental pathology common in hypophosphatemic rickets. OUP Academic

C) Laboratory and pathological tests

11. Fasting serum phosphate (core test). Persistently low phosphate confirms the biochemical hallmark. Age-adjusted ranges must be used in children. PMC

12. Renal phosphate handling (TmP/GFR). Calculated from serum and urine samples; low TmP/GFR shows kidney phosphate wasting driven by FGF23. OUP Academic

13. Intact FGF23 level. Elevated or inappropriately normal-high intact FGF23 supports an FGF23-mediated disorder like ADHR. OUP Academic

14. 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D. Active vitamin D is often low-normal “for the degree of hypophosphatemia” because FGF23 suppresses 1-alpha-hydroxylase. PMC

15. Alkaline phosphatase (ALP). Elevated in growing children with rickets; may be mildly high in adults with osteomalacia. PMC

16. Parathyroid hormone (PTH) and calcium. Usually normal; secondary hyperparathyroidism can occur, especially if treatment is unbalanced. PMC

17. Iron studies (ferritin, transferrin saturation, hemoglobin). Identify iron deficiency that can trigger or worsen ADHR activity; correction is therapeutic. PubMed+1

18. Genetic testing (FGF23 sequencing). Confirms a pathogenic FGF23 variant consistent with ADHR and helps with family counseling. MedlinePlus+1

D) Electrodiagnostic tests

19. Electromyography (EMG). In patients with prominent weakness, EMG can show a metabolic myopathy pattern due to low phosphate; it also excludes neuropathic causes. (Used selectively.) PMC

20. Electrocardiogram (ECG). Severe hypophosphatemia can contribute to arrhythmias; ECG is reasonable if symptoms suggest palpitations or chest discomfort. (Contextual use.) PMC

(If neurological symptoms dominate, clinicians may add nerve conduction studies to exclude unrelated neuropathy.) PMC

E) Imaging tests

• Skeletal X-rays. Wrist, knee, and long-bone films in children show rickets (widened, cupped growth plates); adults show Looser zones or stress fractures. OUP Academic

• Bone density (DXA). May be normal or low; it helps track global mineralization but does not replace phosphate studies. OUP Academic

• MRI or bone scan for stress fractures. Useful when X-rays are negative but pain is focal and persistent. OUP Academic

• Panoramic dental radiography. Detects periapical abscesses and enamel defects. OUP Academic

• Renal ultrasound. Monitors for nephrocalcinosis, especially if treated with phosphate and active vitamin D. PMC

Non-pharmacological treatments (therapies and other measures)

(Each ~2–3 sentences; Description → Purpose → Mechanism)

1. Individualized nutrition counseling: Build a balanced diet with adequate protein, calcium, and phosphorus while respecting medical phosphate prescriptions. Purpose: support bone mineralization and growth. Mechanism: provides substrates for bone and reduces nutritional contributors to low phosphate. PMC

2. Treat iron deficiency with diet and timing: Iron-rich foods plus vitamin-C–aided absorption; avoid tea/coffee with iron meals. Purpose: prevent iron-deficiency–triggered FGF23 spikes. Mechanism: normal iron status dampens the excess FGF23 activity seen in ADHR. PubMed+1

3. Dental preventive care program: Early pediatric dental visits, fissure sealants, and rapid treatment of pulpitis. Purpose: reduce spontaneous dental abscesses. Mechanism: reinforces enamel/dentin and interrupts infection pathways common in hypophosphatemic rickets. PMC+1

4. Physical therapy for lower-limb alignment and strength: Low-impact strengthening and gait training. Purpose: improve function and reduce pain. Mechanism: optimizes muscle-bone loading while medical therapy corrects mineral defects. PMC

5. Activity modification: Prefer low-impact, weight-bearing activities; avoid high-impact jumping when bones are tender. Purpose: limit stress fractures/pseudofractures. Mechanism: reduces micro-trauma while osteoid mineralizes with treatment. PMC

6. Orthotic bracing when indicated: Temporary bracing for progressive tibial varus/valgus in growing children. Purpose: guide growth and relieve pain. Mechanism: redistributes mechanical forces during skeletal remodeling. PMC

7. Sunlight safety and vitamin D education: Maintain general vitamin D sufficiency per clinician guidance even when active vitamin D is used. Purpose: support bone health. Mechanism: keeps substrate for vitamin D metabolism appropriate without excess. PMC

8. Fall-prevention strategies: Home safety, balance training. Purpose: reduce fracture risk. Mechanism: lowers traumatic load on undermineralized bone. PMC

9. Pain self-management skills: Heat/cold, pacing, sleep hygiene. Purpose: improve daily function. Mechanism: addresses central and peripheral contributors to chronic bone/joint pain. PMC

10. Podiatry and footwear optimization: Orthotic insoles and supportive shoes. Purpose: improve alignment and endurance. Mechanism: improves ground-reaction forces across knee/ankle. PMC

11. Growth and development monitoring: Regular growth charts and pubertal staging. Purpose: detect treatment gaps. Mechanism: translates biochemical control into functional outcomes. PMC

12. Orthopedic surveillance: Periodic leg-alignment and spine checks; imaging if pain or deformity progresses. Purpose: time corrective procedures well. Mechanism: ensures medical and mechanical care stay coordinated. PMC

13. Education on medicine-induced hypophosphatemia: Avoid or closely monitor drugs like ferric carboxymaltose, a known cause of FGF23-mediated hypophosphatemia. Purpose: prevent secondary worsening. Mechanism: reduces iatrogenic FGF23 surges. NCBI

14. Hydration guidance: Adequate fluids when on oral phosphate. Purpose: lower GI side effects and kidney stone risk. Mechanism: dilutes urinary solutes and eases dosing. PMC

15. Occupational therapy: Task adaptations for school/work. Purpose: maintain participation while healing. Mechanism: energy conservation and joint protection. PMC

16. Psychosocial support: Counseling for chronic disease burden. Purpose: improve adherence and quality of life. Mechanism: coping skills reduce stress-related pain perception. PMC

17. Genetic counseling: Discuss inheritance, testing of relatives, and family planning. Purpose: informed decisions in autosomal dominant disease. Mechanism: clarifies 50% transmission risk per pregnancy. NCBI

18. Structured home exercise: Core and hip abductor strength. Purpose: reduce knee varus/valgus strain. Mechanism: better proximal control decreases tibial bending moments. PMC

19. School accommodations: Extra time for physical tasks and access to rest. Purpose: sustain attendance and development. Mechanism: matches activity to current bone pain/fatigue. PMC

20. Regular multidisciplinary clinics: Endocrinology, nephrology, dentistry, orthopedics, physio. Purpose: whole-person care. Mechanism: synchronizes dosing, monitoring, and procedures. PMC

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Drug treatments

Key FGF23-targeted therapy

1. Burosumab (CRYSVITA®) — FGF23 monoclonal antibody (on-label for XLH; used by experts for other FGF23-excess states such as ADHR on a case-by-case basis). Long description: Burosumab binds and neutralizes FGF23, raising serum phosphate and 1,25-dihydroxyvitamin D and improving rickets/osteomalacia parameters in trials of XLH; ADHR shares the same hormonal driver, so specialists sometimes use burosumab when conventional therapy fails or is poorly tolerated. Class: monoclonal antibody to FGF23. Dosage/Time: adults with XLH 1 mg/kg SC every 4 weeks (max 90 mg); pediatric dosing is weight-based every 2–4 weeks—clinicians individualize in ADHR. Purpose: correct chronic hypophosphatemia and bone pain. Mechanism: FGF23 inhibition increases renal phosphate reabsorption and active vitamin D. Side effects: injection-site reactions, hypersensitivity, headache; do not combine with oral phosphate or active vitamin D analogs per label. FDA Access Data+2FDA Access Data+2

Conventional “phosphate + active vitamin D” (longstanding standard of care; dosing is specialist-guided and individualized)

2. Oral neutral phosphate salts (e.g., K-Phos Neutral/Phospha 250 Neutral) — Long description: Oral phosphate partially restores serum phosphate and supports mineralization; divided dosing limits GI upset. Class: oral phosphate replacement. Dosage/Time: often 15–60 mg/kg/day elemental phosphorus split 3–5 times daily in children; adults use tablet regimens such as 1–2 tablets four times daily (brand-specific; clinicians individualize). Purpose: raise serum phosphate to reduce rickets pain/deformity. Mechanism: supplies phosphate directly; kidneys still waste some. Side effects: diarrhea, abdominal pain; risk of secondary hyperparathyroidism if not paired with active vitamin D. DailyMed+1

3. Calcitriol (Rocaltrol®) — Long description: Active vitamin D analog improves intestinal calcium/phosphate absorption and helps suppress secondary hyperparathyroidism that can be triggered by oral phosphate. Class: vitamin D hormone analog. Dosage/Time: adults often 0.25–0.5 mcg/day; pediatrics weight-based—specialist-directed. Purpose: support mineralization and protect against PTH rise. Mechanism: increases intestinal absorption and bone mineralization signals. Side effects: hypercalcemia, hypercalciuria; requires regular labs. FDA Access Data+1

4. Cholecalciferol or ergocalciferol (nutritional vitamin D) when deficient — Long description: Corrects general vitamin D deficiency; not a substitute for calcitriol in FGF23-mediated disease but supports overall bone health. Class: vitamin D supplements. Dosage/Time: per deficiency protocol (e.g., weekly high-dose ergocalciferol then maintenance). Purpose: avoid compounding osteomalacia from frank deficiency. Mechanism: replenishes 25-OH vitamin D stores. Side effects: rare at replacement doses; avoid excess. PMC

5. Elemental iron (oral ferrous sulfate/ferrous gluconate) — Long description: In iron-deficient ADHR, iron repletion can normalize or improve phosphate and even allow reduction/withdrawal of rickets medicines in some cases. Class: iron replacement. Dosage/Time: typical oral iron regimens (e.g., 60–120 mg elemental iron/day in divided doses) tailored to labs. Purpose: treat iron deficiency that drives FGF23 overactivity. Mechanism: restores iron-regulated FGF23 processing. Side effects: GI upset, constipation; monitor ferritin and transferrin saturation. PMC+1

6. IV iron—used cautiously — Long description: certain IV formulations (notably ferric carboxymaltose) can worsen hypophosphatemia by acutely raising intact FGF23; they are generally avoided in phosphate-wasting disorders unless clearly needed with close monitoring. Class: parenteral iron. Purpose: only for iron deficiency when oral therapy fails. Mechanism: drug-specific effects on FGF23 biology. Side effects: risk of symptomatic hypophosphatemia with some products. NCBI

7. Potassium phosphate injection (hospital use) — Long description: When oral/enteral replacement is impossible and hypophosphatemia is severe, IV phosphate can be given under monitoring. Class: parenteral phosphate. Dosage/Time: per label and institutional protocols; requires cardiac/renal monitoring. Purpose: acute correction. Mechanism: direct phosphate repletion. Side effects: arrhythmias, hypotension if infused too fast; avoid outside supervised settings. FDA Access Data

8. Magnesium repletion when low — Long description: Magnesium deficiency impairs PTH and vitamin D actions and worsens bone mineralization. Class: mineral replacement. Dosage/Time: per labs; oral magnesium salts. Purpose: support mineral hormones. Mechanism: cofactor for many enzymes in mineral metabolism. Side effects: diarrhea; adjust dose. PMC

9. Analgesics (short courses, non-opioid first) — Long description: Acetaminophen or carefully selected NSAIDs for bone/joint pain while definitive therapy corrects the mineral defect. Class: analgesics. Dosage/Time: short-term, as needed. Purpose: improve function. Mechanism: central/peripheral pain modulation. Side effects: NSAID GI/renal risks; use clinician guidance, especially if on phosphate therapy. PMC

10. Topical fluoride varnish (dental) — Long description: Strengthens enamel to reduce abscess risk. Class: topical dental agent. Dosage/Time: dentist-applied every 3–6 months. Purpose: prevent dental complications. Mechanism: enamel remineralization. Side effects: minimal in professional use. PMC

11. Antibiotics for dental infections — Long description: Prompt treatment of dental abscesses that are common in phosphate-wasting rickets. Class: antimicrobial therapy. Dosage/Time: per infection protocol. Purpose: prevent spread and tooth loss. Mechanism: eradicates infection source. Side effects: drug-specific. PMC

12. Fluoride-free desensitizing pastes (as advised by dentist) — Long description: Reduce dentin hypersensitivity that can accompany enamel defects. Class: dental desensitizers. Purpose: comfort and hygiene. Mechanism: tubule occlusion. Side effects: minimal. Nature

13. Phosphate-friendly antacids (avoid chronic aluminum-containing products) — Long description: Some antacids bind phosphate and can worsen hypophosphatemia; clinicians choose alternatives if needed. Class: GI agents. Purpose: protect phosphate status. Mechanism: reduce intestinal phosphate binding. Side effects: product-specific. PMC

14. Active vitamin D alternatives (alfacalcidol) where used locally — Long description: In some regions alfacalcidol is used similarly to calcitriol with specialist monitoring. Class: vitamin D analog. Purpose/Mechanism: as for calcitriol. Side effects: hypercalcemia risk. PMC

15. Phosphate “rescue” adjustments around growth spurts — Long description: Temporary dose titrations during rapid growth to match needs. Class: protocol adjustment. Purpose: prevent relapse. Mechanism: aligns dosing to physiology. PMC

16. Burosumab self-administration training (for eligible patients) — Long description: Some programs allow trained families to administer burosumab at home with safety monitoring. Class: self-administered biologic. Purpose: improve access and adherence. Mechanism: same as #1. Side effects: same class effects; proper training reduces errors. Frontiers

17. Oral phosphate timing with meals — Long description: Taking with food may improve GI tolerance. Class: administration practice. Purpose: better adherence. Mechanism: reduces GI irritation. DailyMed

18. Phosphate + calcitriol lab-guided titration — Long description: Regular checks of serum phosphate, calcium, PTH, alkaline phosphatase, and urine calcium guide safe dosing. Class: therapeutic monitoring. Purpose: avoid hypercalciuria/nephrocalcinosis. Mechanism: feedback-based adjustments. PMC

19. Avoid combining burosumab with oral phosphate or active vitamin D — Long description: Per FDA label, these should not be used together due to risks of hyperphosphatemia and other adverse effects. Class: drug-interaction caution. Purpose: safety. Mechanism: additive phosphate/VitD effects. FDA Access Data

20. Kidney stone prevention measures if urinary calcium rises — Long description: Hydration and citrate strategies under clinician care when hypercalciuria develops during therapy. Class: nephrolithiasis prevention. Purpose: protect kidneys. Mechanism: reduces crystallization. PMC

Important note on “immunity booster, regenerative, or stem-cell drugs”: There are no FDA-approved stem-cell or regenerative drugs for ADHR or for “boosting immunity” to treat ADHR. Using such products outside clinical trials is not recommended. Safer evidence-based options are those listed above. PMC

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Dietary molecular supplements

1. Nutritional Vitamin D (cholecalciferol/ergocalciferol): Correct deficiency to support bone health while active therapy addresses FGF23 excess. Typical dosing follows deficiency protocols, then maintenance. Function: supports calcium-phosphate balance. Mechanism: raises 25-OH vitamin D stores. PMC

2. Elemental Iron (oral): In iron-deficient ADHR, iron can reduce intact FGF23 and improve phosphate—sometimes dramatically. Dosing is individualized (often 60–120 mg elemental/day). Function: normalize iron; Mechanism: restores FGF23 processing. PMC

3. Calcium (only if clinician advises): Replacement if dietary intake is low, especially when on calcitriol. Function: supports mineralization. Mechanism: substrate for bone. PMC

4. Magnesium: Corrects low magnesium that impairs PTH/vitamin D action. Dosing per labs. Function: cofactor; Mechanism: supports hormone signaling. PMC

5. Phosphorus from food (with medical guidance): Dairy, legumes, meats—adjusted to therapy. Function: complements prescribed phosphate. Mechanism: dietary phosphorus absorption. PMC

6. Vitamin C with iron meals: Improves non-heme iron absorption. Function: better iron uptake. Mechanism: reduces ferric to ferrous iron in gut. PMC

7. Avoid chronic high-phosphate “binders” in diet: Limit products or habits that reduce phosphate absorption when trying to replete (e.g., aluminum antacids). Function: protect absorption. Mechanism: decreases intestinal binding losses. PMC

8. Adequate protein: Supports growth and bone matrix. Function: collagen/osteoid formation. Mechanism: provides amino acids for bone tissue. PMC

9. Hydration: Especially with oral phosphate to reduce GI discomfort and kidney stone risk. Function: renal protection. Mechanism: dilutes urinary solutes. PMC

10. General balanced diet: Whole foods pattern with fruits/vegetables, healthy fats, and complex carbs to support overall health during long-term therapy. Function: systemic resilience. Mechanism: micronutrient adequacy. PMC

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Surgeries and procedures

1. Guided growth (temporary hemiepiphysiodesis) in children: Small plates guide angular correction during growth. Why: treat progressive bowing/knock-knee unresponsive to medical therapy. PMC

2. Corrective osteotomy: Bone cutting and realignment for severe, persistent deformities in adolescents/adults. Why: restore mechanical axis, reduce pain. PMC

3. Management of pseudofractures/stress fractures: Protected weight-bearing or fixation if needed. Why: heal painful fissures in undermineralized bone. PMC

4. Endodontic therapy (root canal) and crowns: Treat recurrent dental abscesses and protect teeth. Why: prevent tooth loss and infection spread. PMC

5. Dental extractions/implants as last resort: For non-restorable teeth after repeated abscesses. Why: remove chronic infection and restore function. PMC

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Preventions & day-to-day tips

1. Maintain iron sufficiency to avoid FGF23-driven flares. PMC

2. Adhere to prescribed phosphate/active vitamin D with regular labs. PMC

3. If on burosumab, don’t take oral phosphate or active vitamin D unless your clinician instructs otherwise. FDA Access Data

4. Avoid ferric carboxymaltose and other agents known to trigger FGF23-mediated hypophosphatemia unless absolutely necessary. NCBI

5. Dental check-ups every 3–6 months with proactive care. PMC

6. Low-impact exercise to strengthen muscles safely. PMC

7. Hydrate well during oral phosphate therapy. DailyMed

8. Monitor growth and alignment in children. PMC

9. Genetic counseling for family planning. NCBI

10. Coordinate care in a specialist center familiar with phosphate-wasting disorders. PMC

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When to see a doctor

See a specialist early if your child has bowed legs, delayed walking, poor growth, persistent bone pain, or repeated dental abscesses without obvious cavities—these are hallmark clues of phosphate-wasting rickets. In adults, new bone pain, muscle weakness, or stress fractures warrant evaluation. If you have ADHR and become iron-deficient (heavy menstrual bleeding, blood loss, fatigue), seek prompt care because iron deficiency can reactivate or worsen symptoms. NCBI+2PMC+2

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What to eat—and what to avoid

Eat: (1) balanced meals with adequate protein; (2) foods supplying phosphorus as advised (dairy, legumes, meats) alongside prescribed therapy; (3) iron-rich foods (meat, legumes, leafy greens) with vitamin-C sources; (4) calcium-containing foods if intake is low; (5) plenty of water daily.

Avoid/limit: (6) chronic use of aluminum-containing antacids that bind phosphate; (7) high-dose supplements not prescribed (risk of calcium/PO₄ imbalance); (8) excessive tea/coffee with iron doses; (9) highly processed foods if they displace nutrient-dense options; (10) using OTC “phosphate binders” or unproven “bone boosters.” Always coordinate with your clinician because your dosing and labs guide the diet. PMC+2DailyMed+2

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Frequently asked questions (FAQs)

1) Is ADHR the same as XLH?
No. Both cause FGF23-driven phosphate wasting, but ADHR is autosomal dominant due to FGF23 mutations; XLH is X-linked due to PHEX mutations. Care principles overlap because the hormonal problem (too much active FGF23) is shared. NCBI

2) Can ADHR “switch on” in adulthood?
Yes. ADHR can appear in adults, especially during or after iron deficiency, pregnancy, or illness. Some people also experience partial remission later in life. NCBI+1

3) Why are dental abscesses so common?
Hypophosphatemia alters dentin mineralization and pulp health, leading to abscesses even without major cavities; preventive and early dental care is crucial. PMC

4) Is burosumab approved for ADHR?
Burosumab is FDA-approved for XLH (children ≥6 months and adults). In ADHR, experts may consider it off-label when benefits outweigh risks and conventional therapy fails. Discuss with your specialist. FDA Access Data

5) If I start burosumab, can I keep taking phosphate and calcitriol?
No—labels advise against combining burosumab with oral phosphate or active vitamin D analogs due to safety concerns; clinicians transition regimens carefully. FDA Access Data

6) Can iron pills really help my bones?
In iron-deficient ADHR, oral iron can reduce intact FGF23 and improve phosphate balance, sometimes allowing reduction of rickets medicines. It is not a stand-alone cure and only helps if you’re actually iron-deficient. PMC

7) Which IV iron should I avoid?
Ferric carboxymaltose is strongly linked to hypophosphatemia via FGF23; if IV iron is unavoidable, your team will choose carefully and monitor phosphate. NCBI

8) How often are labs checked?
During dose titration, every 3–4 months is common, then spaced out once stable; more frequently during growth, pregnancy, or symptom changes. PMC

9) Can ADHR resolve?
Rarely, phosphate wasting can lessen later in life, but monitoring remains important. NCBI

10) What about pregnancy?
Work closely with your specialist; requirements and drug choices (including burosumab) need individualized risk–benefit review. FDA Access Data

11) Are there stem-cell or “regenerative” cures?
No approved regenerative or stem-cell therapies exist for ADHR. Be wary of unproven claims. PMC

12) Why do doctors worry about PTH and urine calcium?
Oral phosphate can raise PTH; calcitriol can raise urine calcium. Monitoring prevents nephrocalcinosis and other complications. PMC

13) Do guidelines exist?
Most guidance is built around XLH but is informative for ADHR because both are FGF23-excess disorders; multidisciplinary, lab-guided care is emphasized. OUP Academic+2OUP Academic+2

14) Will exercise make it worse?
The right plan helps. Low-impact, strength-focused programs improve function while medical therapy repairs bone. Avoid high-impact activity during active rickets/osteomalacia. PMC

15) What’s the single most important day-to-day action?
Stay on your prescribed regimen and keep lab appointments; also treat iron deficiency promptly to prevent FGF23 spikes. PMC+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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