Krzywica
Leczenie
Leczenie krzywicy niedoborowej opiera się na suplementacji witaminy D (głównie D3) oraz wapnia, dostosowanej do wieku i nasilenia choroby. Stosuje się dwie metody podawania witaminy D: stopniową (5000-10000 IU/dobę przez 2-3 miesiące) oraz jednorazową („stoss therapy”) z dawką 600 000 IU podzieloną na 4-6 dawek. Po terapii początkowej zaleca się podtrzymującą suplementację witaminy D w dawce 400-1000 IU/dobę przez 3-6 miesięcy. Suplementacja wapnia wynosi zwykle 30-75 mg/kg masy ciała 2-3 razy dziennie, z dziennym spożyciem 1000-1500 mg. W przypadku hipokalcemii objawowej stosuje się dożylne podawanie glukonianu wapnia (5-20 mg/kg co 4-6 godzin) z monitorowaniem EKG. Leczenie uzupełnia umiarkowana ekspozycja na światło słoneczne oraz regularne monitorowanie biochemiczne (fosfataza alkaliczna, wapń, fosfor, PTH) i radiologiczne, które pozwalają ocenić skuteczność terapii.
Leczenie krzywicy niedoborowej
Leczenie krzywicy niedoborowej opiera się przede wszystkim na suplementacji witaminy D i wapnia, aby skorygować istniejące niedobory i umożliwić prawidłową mineralizację kości. W większości przypadków krzywica może być skutecznie leczona poprzez zastosowanie odpowiednich suplementów12. Sposób leczenia zależy od wieku dziecka oraz nasilenia choroby.
Suplementacja witaminą D
W leczeniu krzywicy niedoborowej stosuje się dwa główne podejścia do suplementacji witaminą D1:
- Metoda stopniowa – podawanie 5000-10000 IU witaminy D dziennie przez 2-3 miesiące, aż do ustąpienia objawów krzywicy i normalizacji poziomu fosfatazy alkalicznej11
- Metoda jednorazowa (tzw. „stoss therapy”) – podanie jednorazowej dawki 15 000 μg (600 000 IU) witaminy D, zwykle podzielonej na 4-6 dawek doustnych12
Badania wykazały, że witamina D3 (cholekalcyferol) jest skuteczniejsza niż witamina D2 (ergokalcyferol), zwłaszcza w przypadku terapii jednorazowej ze względu na dłuższy okres półtrwania3. Podczas terapii jednorazowej, w przypadku krzywicy niedoborowej, poziom fosforu wzrasta w ciągu 96 godzin, a radiologiczna poprawa jest widoczna w ciągu 6-7 dni1.
Po zakończeniu leczenia początkowego zaleca się terapię podtrzymującą w dawkach 400-1000 IU/dobę przez 3-6 miesięcy, w zależności od wieku dziecka41.
Suplementacja wapnia
W leczeniu krzywicy niedoborowej często konieczne jest również podawanie suplementów wapnia1. Zalecana dawka wapnia wynosi zazwyczaj 30-75 mg/kg masy ciała, 2-3 razy dziennie1. U dzieci z krzywicą zaleca się dzienne spożycie wapnia w ilości 1000-1500 mg1.
W przypadku objawowej hipokalcemii może być wskazane dożylne podawanie soli wapnia (glukonian wapnia 10%) w dawce 5-20 mg/kg co 4-6 godzin, z dokładnym monitorowaniem EKG1.
Ekspozycja na światło słoneczne
Ponieważ organizm może naturalnie wytwarzać witaminę D pod wpływem światła słonecznego, częstym zaleceniem jest zwiększenie ekspozycji na słońce11. Umiarkowana ekspozycja na światło słoneczne jest zalecana jako element leczenia i profilaktyki krzywicy1.
Monitorowanie leczenia
W trakcie leczenia krzywicy niezbędne jest regularne monitorowanie stanu pacjenta. Lekarz będzie kontrolował postępy za pomocą badań rentgenowskich i badań krwi1. Normalizacja stężenia fosfatazy alkalicznej, wapnia, fosforu i PTH wskazuje na ustępowanie krzywicy2.
Badania radiologiczne powinny wykazać poprawę już po kilku dniach od rozpoczęcia leczenia w przypadku metody jednorazowej lub po kilku tygodniach w przypadku metody stopniowej11.
Leczenie krzywicy genetycznej
Leczenie rzadkich dziedzicznych postaci krzywicy jest bardziej złożone i zależy od konkretnego typu schorzenia genetycznego11.
Krzywica zależna od witaminy D
W przypadku krzywicy zależnej od witaminy D typu 1A, spowodowanej mutacjami w genie CYP27B1 kodującym 1-alfa-hydroksylazę, leczenie polega na dożywotnim podawaniu fizjologicznych dawek kalcytriol/” title=”kalcytriol” class=”to-tag” data-termid=”19613″>1,25-dihydroksywitaminy D (1,25(OH)2D) dwa razy dziennie ze względu na jej krótki okres półtrwania33.
Krzywica zależna od witaminy D typu 1B, spowodowana mutacjami w genie CYP2R1, jest leczona kalcydiolem (25-hydroksywitaminą D) wraz z suplementacją wapnia45.
Krzywica hipofosfatemiczna
Leczenie krzywicy hipofosfatemicznej zależnej od FGF23 (np. sprzężonej z chromosomem X, XLH) tradycyjnie opierało się na kombinacji doustnych soli fosforanowych i aktywnych form witaminy D15.
Konwencjonalne leczenie XLH wymaga podawania fosforanów doustnych (4-6 dawek dziennie) w połączeniu z aktywnymi metabolitami witaminy D, takimi jak kalcytriol lub alfakalcydiol3. Zalecana początkowa dawka fosforanów wynosi 20-60 mg/kg masy ciała dziennie, podzielona na kilka dawek3.
W 2018 roku zatwierdzono nowy lek do leczenia XLH – burosumab, w pełni ludzkie przeciwciało monoklonalne IgG1 neutralizujące FGF2321. Burosumab podaje się podskórnie co 2 tygodnie w dawce początkowej 0,8 mg/kg masy ciała (maksymalna dawka 90 mg)44.
Badania kliniczne wykazały, że burosumab jest skuteczniejszy niż konwencjonalna terapia w poprawie objawów krzywicy, wzrostu, deformacji kończyn dolnych i chodu u dzieci z XLH w wieku od 1 do 12 lat27. W jednym z badań po 40 tygodniach leczenia u 72% dzieci otrzymujących burosumab osiągnięto znaczącą poprawę krzywicy, podczas gdy w grupie leczonej konwencjonalnie poprawę zaobserwowano tylko u 6% pacjentów1.
Inne formy krzywicy hipofosfatemicznej
Leczenie form krzywicy hipofosfatemicznej niezależnych od FGF23, spowodowanych defektami genetycznymi hamującymi reabsorpcję fosforanów w kanalikach nerkowych, wymaga jedynie doustnego podawania fosforanów, ponieważ te formy są związane z nadmierną produkcją 1,25(OH)2 witaminy D25.
Formy krzywicy hipofosfatemicznej spowodowane zespołem Fanconiego, takie jak nefropatyczna cystynoza i choroba Denta, wymagają leczenia specyficznego dla danej choroby, oprócz suplementacji fosforanów i aktywnych form witaminy D15.
Leczenie chirurgiczne i ortopedyczne
W przypadku ciężkich deformacji kostnych spowodowanych krzywicą może być konieczne leczenie ortopedyczne11.
Leczenie zachowawcze
W niektórych przypadkach krzywicy stosuje się specjalne ortezy lub gorsety, aby prawidłowo ustawić ciało dziecka podczas wzrostu kości11. Odpowiednie pozycjonowanie lub stosowanie ortez może pomóc w zmniejszeniu lub zapobieganiu deformacjom1.
Leczenie operacyjne
Poważniejsze deformacje szkieletowe mogą wymagać interwencji chirurgicznej11. Zabieg chirurgiczny może być konieczny do skorygowania znacznych deformacji koślawych lub koślawości kończyn dolnych1.
Leczenie chirurgiczne powinno być przeprowadzone dopiero po ustąpieniu biochemicznych zaburzeń, aby umożliwić optymalne gojenie w miejscu operacji1. Badania wykazały, że kontrola metaboliczna po operacji ma istotne znaczenie dla powodzenia korekcji deformacji kończyn u dzieci z krzywicą hipofosfatemiczną1.
Osteotomia korekcyjna i stabilizacja za pomocą stabilizatorów zewnętrznych, gwoździ śródszpikowych, drutów Kirschnera, płytek lub gipsowania są wykonywane w ciężkich przypadkach deformacji2.
Efekty leczenia i rokowanie
Przy odpowiednim leczeniu rokowanie w krzywicy jest zazwyczaj dobre, szczególnie jeśli choroba zostanie wcześnie rozpoznana i leczona11.
Czas i skuteczność leczenia
Większość dzieci z krzywicą niedoborową reaguje szybko na leczenie. Objawy kliniczne, takie jak ból i osłabienie mięśni, powinny ustąpić w ciągu kilku tygodni1. Kości słabo zmineralizowane zazwyczaj bardzo szybko reagują na suplementację wapniem i witaminą D. Poprawę można zaobserwować na zdjęciach rentgenowskich już po kilku dniach leczenia1.
W większości przypadków krzywicy niedoborowej zmiany radiologiczne zaczynają ustępować, a poziom fosfatazy alkalicznej we krwi normalizuje się po około 6-8 tygodniach odpowiedniego leczenia1.
Długotrwałe efekty
Jeśli krzywica jest leczona w okresie, gdy dziecko jest jeszcze młode, istnieje duża szansa, że deformacje szkieletowe znikną w miarę dojrzewania dziecka12. Mniejsze deformacje kostne często korygują się samoistnie wraz z upływem czasu bez konieczności interwencji chirurgicznej1.
Jeśli jednak krzywica nie zostanie leczona w okresie wzrostu dziecka, deformacje szkieletowe mogą stać się trwałe12. W niektórych przypadkach, pomimo leczenia, znaczne skrzywienie kończyn może wymagać korekty chirurgicznej1.
Profilaktyka krzywicy
Krzywica niedoborowa może być skutecznie zapobiegana poprzez odpowiednią suplementację witaminą D, właściwą dietę oraz umiarkowaną ekspozycję na światło słoneczne12.
Zalecenia dla niemowląt i dzieci
Amerykańska Akademia Pediatrii zaleca, aby zdrowe niemowlęta, dzieci i młodzież otrzymywały co najmniej 400 IU witaminy D dziennie2. Szczegółowe zalecenia obejmują:
- Niemowlęta karmione piersią powinny otrzymywać suplementy witaminy D w kroplach (400 IU/dobę) do czasu przejścia na co najmniej litr dziennie wzbogaconej mieszanki lub mleka krowiego (w wieku 12 miesięcy)22
- Niemowlęta niekarmione piersią i inne małe dzieci, które nie piją litra dziennie wzbogaconego mleka, powinny otrzymywać suplement witaminy D w dawce 400 IU/dobę lub uzyskiwać inne źródła dietetyczne tej witaminy2
- Młodzież powinna przyjmować suplement witaminy D w dawce 400 IU/dobę, chyba że pije cztery 8-uncjowe porcje wzbogaconego mleka dziennie2
Zalecenia dla kobiet w ciąży
Kobiety w ciąży powinny przyjmować suplement witaminy D zgodnie z zaleceniami lekarza. Standardowa rekomendacja to co najmniej 600 IU witaminy D dziennie, chociaż lekarz może zalecić przyjmowanie do 2000 IU dziennie2.
Źródła dietetyczne witaminy D i wapnia
Niektóre gatunki ryb (zwłaszcza łosoś sockeye i pstrąg tęczowy) są szczególnie bogate w witaminę D. Wiele produktów spożywczych jest również wzbogacanych w witaminę D, takich jak mleko, sok pomarańczowy i płatki śniadaniowe3.
Źródłami wapnia w diecie są głównie produkty mleczne, ale także zielone warzywa liściaste, ryby z puszki z kośćmi oraz wzbogacone produkty roślinne1.
Dzieci z nietolerancją laktozy mogą być suplementowane wapniem w postaci płynnej, gumowatej lub do żucia1.
Kolejne rozdziały
Zapraszamy do dalszego czytania naszego leksykonu.
Wybierz kolejny rozdział z menu poniżej, aby otworzyć nową podstronę kompedium wiedzy i uzyskać szczegółowe informację o leku, substancji lub chorobie.
Materiały źródłowe
- #1 Rickets – Diagnosis & treatment – Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/rickets/diagnosis-treatment/drc-20351949
Most cases of rickets can be treated with vitamin D and calcium supplements. Follow the directions as to dosage. Too much vitamin D can be harmful. […] Your child’s healthcare team may check your child’s progress with X-rays and blood tests. […] If your child has a rare inherited disorder that causes low amounts of phosphorus, supplements and medicines may be prescribed. […] For some cases of bowleg or spinal deformities, your healthcare professional might suggest special bracing to position your child’s body properly as the bones grow. More-serious skeletal deformities might require surgery.
- #1 Rickets Treatment & Management: Approach Considerations, Deterrence/Preventionhttps://emedicine.medscape.com/article/985510-treatment
Treatment for rickets may be administered gradually over several months or in a single-day dose of 15,000 mcg (600,000 U) of vitamin D. […] If the gradual method is chosen, 125-250 mcg (5000-10,000 U) is given daily for 2-3 months until healing is well established and the alkaline phosphatase concentration is approaching the reference range. […] The single-day therapy avoids problems with compliance and may be helpful in differentiating nutritional rickets from familial hypophosphatemia rickets (FHR). […] A study by Dabas et al compared the efficacy of daily versus weekly oral vitamin D3 therapy in the radiologic healing of nutritional rickets. […] A study by Thacher et al sought to determine the optimal dose of calcium for treatment of children with rickets. […] If severe deformities have occurred, orthopedic correction may be required after healing. […] A consultation with a pediatric endocrinologist is recommended.
- #1 Rickets Medication: Vitamin Dhttps://emedicine.medscape.com/article/985510-medication
Treatment for rickets is with cholecalciferol, which may be gradually administered over several months or in a single-day dose. The single-day therapy avoids problems with compliance and may be helpful in differentiating nutritional rickets from familial hypophosphatemia rickets (FHR). In nutritional rickets, the phosphorous level rises in 96 hours and radiographic healing is visible in 6-7 days. Neither happens with FHR. […] For treatment of rickets, cholecalciferol can be given in a single-day dose of 15,000 mcg (600,000 U), which is usually divided into 4 or 6 oral doses. An intramuscular injection is also available. […] An alternative regimen is to give 125-250 mcg (5000-10,000 U) daily for 2-3 months until healing is well established and the alkaline phosphatase concentration is approaching the reference range. Because this gradual method requires daily treatment, success depends on compliance.
- #1 Vitamin D Deficiency and Rickets – Pediatric Endocrine Societyhttps://pedsendo.org/patient-resource/vitamin-d-deficiency-and-rickets/
[…] […] Treatment of mild vitamin D deficiency-cholecalciferol (D3) or ergocalciferol(D2) 12 months old 1000 IU/day for 6 to 12 weeks, followed by maintenance dosing of at least 400 IU/day for 3 to 6 months 12 months old 2000 IU/day for 6 to 12 weeks, followed by maintenance dosing of 600 to 1000 IU/day for 3-6 months. […] […] […] Treatment: It depends on the type of Rickets. Chole/Ergocalciferol-1000-9,000IU/day for Vitamin D deficiency rickets. Add calcium at a dose of 30-75mg/kg/day if hypocalcemia is present. Vitamin D resistant and 1 alpha-hydroxylase rickets are treated with calcitriol. For the treatment of hypophosphatemic rickets, calcitriol(higher dose) is given along with phosphorus supplementation. Monitoring requires monitoring of calcium, phosphorus, alkaline phosphatase, and parathyroid hormone levels in 2-3 weeks.
- #1https://www.nhs.uk/conditions/rickets-and-osteomalacia/treatment/
As most cases of rickets are caused by a vitamin D and calcium deficiency, it’s usually treated by increasing a child’s intake of vitamin D and calcium. […] Vitamin D and calcium levels can be increased by: […] Your GP will advise you about how much vitamin D and calcium your child will need to take. This will depend on their age and the cause of rickets. If your child has problems absorbing vitamins, they may need a higher dose. […] When rickets occurs as a complication of another medical condition, treating the underlying condition will often cure the rickets. […] If your child has a bone deformity caused by rickets, such as bowed legs or curvature of the spine, your GP may suggest treatment to correct it. This may include surgery. […] A combination of phosphate supplements and a special form of vitamin D is required for the treatment of hypophosphatemic rickets, where a genetic defect causes abnormalities in the way the kidneys and bones deal with phosphate.
- #1 Rickets Types and Treatment with Vitamin D and Analogueshttps://www.mdpi.com/2072-6643/16/3/416
Rickets therapy is based on vitamin D and calcium supplementation, plus phosphate when necessary. In conditions of malabsorption/malnutrition, combined vitamin D and calcium treatment is mandatory, whereas dietary calcium intake may be sufficient in cases of rickets secondary to metabolic disorders, even though vitamin D supplementation remains fundamental. Treatment with vitamin D in rickets due to calcium deficiency has also been hypothesized. Although the first studies on this topic were based on drugs containing both vitamin D and calcium, due to a lack of evidence, it is conceivable that supplementing vitamin D with calcium may not always be necessary and may also increase the risk of side effects such as nephrocalcinosis and kidney stones. […] Early treatment of this form of rickets is based on the combined administration of vitamin D and calcium salts. Calcium salts dose (30â75 mg/kg, 2â3 times per day) varies according to body weight. In case of symptomatic hypocalcemia, intravenous administration of 5â20 mg/kg of calcium salts (calcium gluconate 10%) every 4â6 h, with careful electrocardiographic (ECG) monitoring, is indicated. The dose of vitamin D to be supplemented is tailored according to the patientâs age.
- #1 Rickets: Causes, Symptoms, Treatment, and Preventionhttps://www.webmd.com/children/what-to-know-rickets
Rickets treatment starts with vitamin D and calcium supplements. In most cases, the right supplements can treat the condition. […] The recommended daily vitamin D dosage for infants is 1,000 to 2,000 International Units. […] The recommended daily calcium intake for children with rickets is 1,000 to 1,500 milligrams (mg) per day. The source could be either calcium-rich foods or supplementation. […] In cases of rickets caused by rare inherited disorders, doctors may prescribe medications along with supplements. […] If your child has developed a bowed leg or any spinal deformity, the doctor may suggest bracing to position your child’s posture. In severe skeletal deformity cases, surgery may be required. […] Your child’s doctor may use X-rays and blood tests to evaluate your child’s recovery progress.
- #1 Rickets: Definition, Symptoms, Causes & Treatmenthttps://my.clevelandclinic.org/health/diseases/22459-rickets
Yes, most cases of rickets (especially nutritional rickets) are curable when caught early. In most cases, changes to diet, added vitamin supplements and more sunlight exposure are enough to cure this disease. […] Depending on how severe the case is, your pediatrician may recommend one or more of the following treatments for rickets: […] This usually involves high doses of vitamin D, from either diet or supplements. These doses may be given for several months, depending on the severity of the case and other factors. Your pediatrician may also recommend a standard daily vitamin D supplement once the higher doses aren’t needed. […] Because your body can naturally make vitamin D when you’ve been exposed to sunlight, encouragement to get outside and get some sunshine is likely. […] For inherited cases of rickets, there are several treatment options depending on the genetic disorder in question. Your pediatrician may refer you to see a specialist to help find a treatment solution.
- #1 Rickets: Symptoms, causes, and treatmentshttps://www.medicalnewstoday.com/articles/176941
Treatment will aim to maximize the individuals intake of calcium, phosphate, and vitamin D. […] Depending on the underlying cause, a doctor will usually prescribe vitamin D supplements. […] They may also recommend: increasing exposure to sunlight, making dietary changes, taking fish oil, getting more exposure to UVB light, consuming calcium and phosphorus. […] If rickets results from a poor diet, a doctor may prescribe: daily calcium and vitamin D supplements, an annual vitamin D injection (if a person cannot take supplements orally), a diet plan that focuses on foods rich in vitamin D. […] If the cause is genetic, a doctor may prescribe phosphate and calcitriol supplements to reduce bowing in the legs. […] If there is an underlying medical cause, such as kidney disease, treating it may help prevent rickets.
- #1 Rickets: MedlinePlus Medical EncyclopediaLockhttps://medlineplus.gov/ency/article/000344.htm
The goals of treatment are to relieve symptoms and correct the cause of the condition. The cause must be treated to prevent the disease from returning. […] Replacing calcium, phosphorus, or vitamin D that is lacking will eliminate most symptoms of rickets. Dietary sources of vitamin D include fish liver and processed milk. […] Exposure to moderate amounts of sunlight is encouraged. If rickets is caused by a metabolic problem, a prescription for vitamin D supplements may be needed. […] Positioning or bracing may be used to reduce or prevent deformities. Some skeletal deformities may require surgery to correct them.
- #1 Rickets | Better Health Channelhttps://www.betterhealth.vic.gov.au/health/conditionsandtreatments/rickets
Rickets is a preventable bone disease that causes soft and weakened bones in infants and young children. […] Treatment options include improved sunlight exposure, diet, vitamin D and mineral supplements. […] Treatment options for rickets include: improved sunlight exposure, improved diet that includes adequate intake of calcium and vitamin D, oral vitamin D supplements these may need to be taken for about 3 months, special forms of vitamin D supplements for people whose bodies cant convert vitamin D into its active form, treatment for any underlying disorder, surgery to correct severe bone deformities. […] Bones that are poorly mineralised generally respond very quickly to dietary supplementation with calcium and vitamin D. Improvements may be seen on x-ray after only a few days of treatment. If rickets is treated when the child is young, there is a good chance that the skeletal deformities will disappear as the child matures. However, the deformities and reduced height will be permanent if the child goes through puberty without treatment.
- #1 FDA approves first therapy for rare inherited form of rickets, x-linked hypophosphatemia | FDAhttps://www.fda.gov/news-events/press-announcements/fda-approves-first-therapy-rare-inherited-form-rickets-x-linked-hypophosphatemia
The U.S. Food and Drug Administration today approved Crysvita (burosumab-twza), the first drug approved to treat adults and children ages 1 year and older with x-linked hypophosphatemia (XLH), a rare, inherited form of rickets. […] This is the first FDA-approved medication for the treatment of XLH and a real breakthrough for those living with this serious disease. […] The safety and efficacy of Crysvita were studied in four clinical trials. […] In both children and adults, X-ray findings associated with XLH improved with Crysvita therapy. […] Crysvita was granted Breakthrough Therapy designation, under which the FDA provides intensive guidance to the company on efficient drug development, and expedites its review of drugs that are intended to treat serious conditions where clinical evidence shows the drug may represent a substantial improvement over other available therapies.
- #1 Clinical trial at IU School of Medicine improves treatment of genetic ricketshttps://medicine.iu.edu/news/2019/05/clinical-trial-at-iu-school-of-medicine-improves-treatment-of-genetic-rickets
A new study shows a drug developed in conjunction with investigators at Indiana University School of Medicine to alleviate symptoms of a rare musculoskeletal condition is significantly more effective than conventional therapies. […] The primary outcome was improvement in rickets on X-rays, as scored by radiologists that were unaware of which treatment group the participant was in. […] By 40 weeks of treatment, researchers found 72 percent of the children who received Burosumab achieved substantial healing of rickets, while only 6 percent of those in the conventional therapy group saw substantial healing. […] This is the first study comparing Burosumab head-to-head with conventional therapy, said lead investigator Erik Imel, MD, associate professor of medicine at IU School of Medicine. We now know the magnitude of benefit from Burosumab over the prior approach with conventional therapy. This information is critical for doctors to make treatment decisions for patients with XLH. […] Researchers plan to continue studying the long-term effects of Burosumab, including the effect treating children has on height outcomes as an adult and whether this treatment will decrease the need for surgeries to correct bowed legs.
- #1 Rickets guidance: part IIâmanagementhttps://pmc.ncbi.nlm.nih.gov/articles/PMC9395459/
Here, we discuss the management of different forms of rickets, including new therapeutic approaches based on recent guidelines. Management includes close monitoring of growth, the degree of leg bowing, bone pain, serum phosphate, calcium, alkaline phosphatase as a surrogate marker of osteoblast activity and thus degree of rickets, parathyroid hormone, 25-hydroxyvitamin D3, and calciuria. An adequate calcium intake and normal 25-hydroxyvitamin D3 levels should be assured in all patients. Children with calcipenic rickets require the supplementation or pharmacological treatment with native or active vitamin D depending on the underlying pathophysiology. Treatment of phosphopenic rickets depends on the underlying pathophysiology. Fibroblast-growth factor 23 (FGF23)-associated hypophosphatemic rickets was historically treated with frequent doses of oral phosphate salts in combination with active vitamin D, whereas tumor-induced osteomalacia (TIO) should primarily undergo tumor resection, if possible. Burosumab, a fully humanized FGF23-antibody, was recently approved for treatment of X-linked hypophosphatemia (XLH) and TIO and shown to be superior for treatment of XLH compared to conventional treatment. Forms of hypophosphatemic rickets independent of FGF23 due to genetic defects of renal tubular phosphate reabsorption are treated with oral phosphate only, since they are associated with excessive 1,25-dihydroxyvitamin D production. Finally, forms of hypophosphatemic rickets caused by Fanconi syndrome, such as nephropathic cystinosis and Dent disease require disease-specific treatment in addition to phosphate supplements and active vitamin D. Adjustment of medication should be done with consideration of treatment-associated side effects, including diarrhea, gastrointestinal discomfort, hypercalciuria, secondary hyperparathyroidism, and development of nephrocalcinosis or nephrolithiasis.
- #1 Rickets (for Parents) | Nemours KidsHealthhttps://kidshealth.org/en/parents/rickets.html
Treatment for rickets helps make bones stronger. Doctors prescribe supplements to replace the missing vitamin D, calcium, and phosphorus. […] Kids with a bone deformity might need braces to reposition the bones as they grow. In severe cases, a child may need surgery. […] If another disease causes rickets, a child will go to a specialist for care.
- #1 Rickets – Symptoms & causes – Mayo Clinichttps://www.mayoclinic.org/diseases-conditions/rickets/symptoms-causes/syc-20351943
Adding vitamin D or calcium to the diet generally corrects the bone problems associated with rickets. […] When rickets is due to another underlying medical problem, your child may need additional medicines or other treatment. […] Some skeletal deformities caused by rickets may require corrective surgery. […] Rare inherited disorders related to low levels of phosphorus, the other mineral component in bone, may require other medicines.
- #1 Rickets: Not a Disease of the Past | AAFPhttps://www.aafp.org/pubs/afp/issues/2006/0815/p619.html
Rickets develops when growing bones fail to mineralize. […] Nutritional rickets is treated by replacing the deficient nutrient. […] Vitamin Ddependent rickets, type I is treated with vitamin D; management of type II is more challenging. […] Familial hypophosphatemic rickets is treated with phosphorus and vitamin D, whereas hereditary hypophosphatemic rickets with hypercalciuria is treated with phosphorus alone. […] The aim of early diagnosis and treatment is to resolve biochemical derangements and prevent complications such as severe deformities that may require surgical intervention. […] Vitamin Ddeficiency rickets can be treated initially with high-dose vitamin D and calcium and phosphorus supplements. […] Surgical intervention may be necessary to repair severe bony abnormalities in children with rickets, but it should not be undertaken until the biochemical derangements have resolved so that optimal healing occurs at the surgical site.
- #1 Improving Surgical Outcomes for Children With Rickets | Children’s Hospital Los Angeleshttps://www.chla.org/blog/experts/research-and-breakthroughs/improving-surgical-outcomes-children-rickets
A new study finds that metabolic control after surgery is associated with successful correction of leg deformities in children with hypophosphatemic rickets. […] Orthopedic surgery plays a critical role in the treatment of angular deformities in children with severe forms of hypophosphatemic rickets, a rare disorder that leads to soft, painful bones and poor growth. […] Recently, a study led by Childrens Hospital Los Angeles revealed the importance of metabolic control of rickets on these varying outcomes. […] Only metabolic control after surgeryânot beforeâwas associated with success. […] Surgery does not treat the rickets itself, but it can be very helpful in decreasing pain and improving a child’s mobility and deformity. […] Postoperative metabolic control was significantly associated with deformities correcting back to normal alignment, signifying the importance of medical treatment of rickets.
- #1 Rickets – OrthoInfo – American Academy of Orthopaedic Surgeonshttps://orthoinfo.aaos.org/en/diseases–conditions/rickets
Rickets is a bone disease in children that causes weak bones, bowed legs, and other bone deformities. Children with rickets do not get enough calcium, phosphorus, or Vitamin D all of which are important for healthy growing bones. […] Treatment of rickets begins with Vitamin D and calcium supplementation. Children who have been diagnosed with nutritional rickets will immediately start Vitamin D supplementation of 1,000 to 2,000 international units (IU) per day. Sometimes much higher levels of Vitamin D are used under a doctor’s care. […] Rickets is treated with calcium and vitamin D and has a good outlook after treatment.
- #1 What Is Rickets? – Symptoms And Treatment | familydoctor.orghttps://familydoctor.org/condition/rickets/
Treatment depends on the type of rickets your child has. For children who lack enough nutrients, the doctor will prescribe supplements for vitamin D and calcium. Your childâs pain and muscle weakness should get better within a few weeks. If your child has bone defects caused by rickets, they may need braces or surgery to correct the problem. […] For children who inherit rickets or have an illness that caused it, you may need to see a specialist. […] Most cases of rickets go away once your child gets enough vitamin D. There may be lasting effects or defects that require further treatment, such as braces or surgery. Your child may need therapy as a result. It is possible that your child may require a strict diet in order to stay healthy.
- #1https://www.healthychildren.org/English/healthy-living/nutrition/Pages/Vitamin-D-Deficiency-and-Rickets.aspx
Treatment requires high doses of either ergocalciferol (vitamin D2) or cholecalciferol (vitamin D3) to build up the body stores of the vitamin. The standard regimen is about 2000 to 4000 units daily for several months. It can vary based on the size and age of the child being treated. Some physicians use other regimens. […] Supplemental calcium is also needed to keep the blood calcium level normal and heal the bones if the dietary intake of calcium is not sufficient. […] If the treatment is adequate, the x-ray changes start to resolve and the blood alkaline phosphatase normalizes in about 6 to 8 weeks. If bowing of the legs has developed, it can take many months to straighten out, but it usually does improve.
- #1 Rickets Disease, Symptoms, Causes, Treatmenthttps://www.medicinenet.com/rickets/article.htm
What is the treatment for rickets? The treatment for rickets depends upon the cause as mentioned above in the discussion of hypophosphatemic rickets and renal rickets. In cases of nutritional rickets and vitamin D deficiency, treatment is simple. The first step is to prevent the complications of calcium and phosphate deficiency by correcting any abnormal levels with supplemental calcium or phosphate as well as the activated vitamin D (calcitriol). Once the diagnosis of rickets is confirmed, initiation of vitamin D supplementation is recommended, as well as a diet rich in calcium. This is especially important for children on vegan diets. The treatment for some of the bony abnormalities depends on the severity of the cases and may require referral to an orthopedic provider for evaluation. […] Outcomes for children with nutritional rickets are excellent, especially if diagnosed early. Appropriate supplementation with calcium and vitamin D will lead to healing of the bony defects within days to months. Severe bowing, seen in longer-standing cases of rickets, may also resolve over a number years without requiring surgical intervention. In patients with very advanced disease, however, the bony changes may be permanent.
- #1 OrthoKids – Ricketshttps://orthokids.org/conditions/rickets/
Treatment usually begins with calcium and Vitamin D supplements. Your doctor may also recommend some dietary changes. Children with inherited rickets will usually be treated by an endocrinologist. […] Treatment usually begins with calcium and Vitamin D supplements. Your doctor may also recommend some dietary changes. Children with inherited rickets will usually be treated by an endocrinologist. […] Most children with rickets do well once treatment has begun. Some of the bony deformities can correct over time. In some cases, surgery will be needed to correct deformities, such as severely bowed legs.
- #1https://www.nhs.uk/conditions/rickets-and-osteomalacia/
For most children, rickets can be successfully treated by ensuring they eat foods that contain calcium and vitamin D, or by taking vitamin supplements. […] If your child has problems absorbing vitamins and minerals, they may need a higher supplement dose or a yearly vitamin D injection. […] Rickets can easily be prevented by eating a diet that includes vitamin D and calcium, spending some time in sunlight, and if necessary, taking vitamin D supplements.
- #1 Rickets: Symptoms, causes, prevention and treatment | OrthoIndy Bloghttps://blog.orthoindy.com/2018/11/14/rickets-symptoms-causes-prevention-and-treatment/
Rickets is a bone disease that causes weak bones, bowed legs and other bone deformities. […] Supplements such as Vitamin D and calcium immediately help the healing process. Recovery may take months, but deformities of the bones may get better over time without surgery. Surgery may be necessary in advanced cases to correct severely bowed or knock-kneed legs. In extreme cases, chest or pelvic deformities may be permanent. […] If your infant is exclusively breastfed, they should be supplemented with 400 IU of Vitamin D every day; nursing mothers should take 4000 IU of Vitamin D to increase Vitamin D in the breast milk. Infants need 400 mg of calcium daily (about one and a half cups of milk). Older children and adolescents should get 1000 to 1500 IU of Vitamin D every day. A teen might need 1500 to 2000 mg of calcium to form strong bones. Lactose intolerant children can be supplemented with calcium in liquid, gummy or chewable pill forms.
- #2https://www.nhs.uk/conditions/rickets-and-osteomalacia/treatment/
As most cases of rickets are caused by a vitamin D and calcium deficiency, it’s usually treated by increasing a child’s intake of vitamin D and calcium. […] Vitamin D and calcium levels can be increased by: […] Your GP will advise you about how much vitamin D and calcium your child will need to take. This will depend on their age and the cause of rickets. If your child has problems absorbing vitamins, they may need a higher dose. […] When rickets occurs as a complication of another medical condition, treating the underlying condition will often cure the rickets. […] If your child has a bone deformity caused by rickets, such as bowed legs or curvature of the spine, your GP may suggest treatment to correct it. This may include surgery. […] A combination of phosphate supplements and a special form of vitamin D is required for the treatment of hypophosphatemic rickets, where a genetic defect causes abnormalities in the way the kidneys and bones deal with phosphate.
- #2 Rickets Types and Treatment with Vitamin D and Analogueshttps://www.mdpi.com/2072-6643/16/3/416
Vitamin D2 or D3 therapy can also be applied as a âone shot therapyâ, also referred to as âstoss therapyâ. It has been claimed that this approach improves therapeutical compliance in patients who are reluctant to adhere to the daily dose intake, besides being easier to apply. As for potential concerns about the safety of large single doses, hypercalcemia and/or hypercalciuria has been seldom reported as a side effect; in a Turkish study on nutritional rickets, only 8 out of 56 children aged 3â36 months, two of whom were receiving 300,000 IU and six 600,000 IU, developed hypercalcemia. Another study carried out in India, comparing single oral doses of 300,000 vs. 600,000 IU of vitamin D3 in 76 children aged 6 months to 5 years with nutritional rickets, reported the occurrence of hypercalcemia in only five children (two in the 300,000 IU and three in the 600,000 IU group).
- #2 Rickets guidance: part IIâmanagementhttps://pmc.ncbi.nlm.nih.gov/articles/PMC9395459/
The cornerstone of treatment of calcipenic rickets is the supplementation or pharmacological treatment with native or active vitamin D depending on the underlying pathophysiology in combination with adequate calcium supplementation. Treatment of phosphopenic rickets depends on the underlying pathophysiology. Fibroblast-growth factor 23 (FGF23)-associated hypophosphatemic rickets was historically treated with frequent doses of oral phosphate salts in combination with active vitamin Dso-called conventional treatment. […] Normalization of serum ALP, calcium, phosphate, and PTH levels indicates healing of rickets. However, in severe forms of phosphopenic rickets, such as XLH, normalization of serum phosphate is not a practical goal during conventional treatment as serum phosphate levels quickly decrease again after each phosphate dose.
- #2 Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia | Nature Reviews Nephrologyhttps://www.nature.com/articles/s41581-019-0152-5
Conventional therapy further stimulates FGF23 levels and thereby renal phosphate wasting, resulting in a vicious circle, which might limit its efficacy. […] In 2018, burosumab, a fully human monoclonal IgG1 antibody neutralizing FGF23, was approved by health authorities for the treatment of patients with XLH in the European Union and the USA on the basis of encouraging clinical trial results. […] Treatment with phosphate and/or active vitamin D does not decrease or prevent the development of osteoarthritis or enthesopathies. […] Currently, evidence that treatment with burosumab ameliorates these complications is lacking. […] We recommend treating children with overt X-linked hypophosphataemia (XLH) phenotype with a combination of oral phosphorus (phosphate salts) and active vitamin D (calcitriol or alfacalcidol) as soon as diagnosis is established.
- #2 Rickets Types and Treatment with Vitamin D and Analogueshttps://pmc.ncbi.nlm.nih.gov/articles/PMC10857029/
As for vitamin D-dependent rickets, treatment is based on the combined administration of an active vitamin D metabolite and calcium salts. […] The treatment of genetic vitamin D-dependent rickets type 1B is based on the administration of cholecalciferol, i.e., at different doses, depending on the heterozygous or monozygous mutation status, or of calcifediol. […] The treatment of FGF23-independent forms of hypophosphatemic rickets, due to genetic defects inhibiting renal tubular phosphate reabsorption, only requires oral phosphate, as these forms are associated with excessive 1,25 (OH)2 vitamin D production. […] Patients who show a poor response to conventional treatment or significant side effects are candidates for therapy with Burosumab, a humanized IgG1 monoclonal antibody directed against the FGF23 hormone. […] Burosumab treatment has proved to be more effective than conventional therapy in improving rickets, growth, lower limb deformities, and walking in children with XLH from 1 to 12 years of age.
- #2 Azthena logo with the word Azthenahttps://www.news-medical.net/health/Rickets-Treatments.aspx
Calcitriol is often useful in vitamin D deficiency with hypocalcaemia until calcium levels are normalized. It also represents a recommended approach for type I vitamin D-deficient rickets, type II vitamin D-resistant rickets and familial or X-linked hypophosphataemic rickets. […] As soon as such medical treatment has resulted in the correction of biologically-active rickets (characterized by normal levels of alkaline phosphatase levels and radiology results), the focus of treatment should shift to the restoration of deformed extremities to functional alignment. […] Surgical treatments are generally indicated for severe extremity deformities due to impaired bone growth and fractures due to bone fragility in patients with rickets. Corrective osteotomy and fixation with external fixators, intramedullary nails, Kirshner’s wires, plates and casting (including epiphysiodesis) is performed in such cases.
- #2 Rickets: Symptoms, Diagnosis, and Treatmentshttps://www.healthline.com/health/rickets
Increasing vitamin D, calcium, and phosphate levels will help correct the disorder. Most children with rickets see improvements in about one week. […] Skeletal deformities will often improve or disappear over time if rickets is corrected while the child is still young. However, skeletal deformities can become permanent if the disorder isnt treated during a child’s growth period.
- #2 Rickets: Definition, Symptoms, Causes & Treatmenthttps://my.clevelandclinic.org/health/diseases/22459-rickets
While rickets is a treatable and often curable disease, it’s important to treat it as soon as possible. When not treated, milder cases of rickets can result in long-term bone that can keep bones from growing properly. Severe cases that aren’t treated can lead to seizures, heart damage and death. […] Yes, nutritional rickets can be prevented. […] For women who are pregnant and infants: […] Women who are pregnant: Take a vitamin D supplement as guided by your physician. The standard recommendation is at least 600 IUs of vitamin D daily. However, your doctor may encourage you to take up to 2,000 IUs daily. […] Infants: Vitamin D supplement drops are available in most pharmacies. All breastfed infants should get 400 IUs of vitamin D daily. […] For older children: […] Your body makes vitamin D when exposed to sunlight, so it’s harder for people with darker skin to make vitamin D if they spend a lot of time indoors (or for people who only go outside with sunscreen on).
- #2 Rickets + 5 Natural Ways to Improve Vitamin D Deficiency – Dr. Axehttps://draxe.com/health/rickets/
To do so, they recommend: Breastfed infants should get vitamin D drops to supplement the breast milk, 400 IU/day, until they transition to at least one liter per day of fortified formula or cows milk (at 12 months). […] Infants who are not breastfed and other young children who do not drink a liter per day of fortified milk should either receive a vitamin D supplement of 400 IU/day or get other dietary sources of the vitamin. […] Adolescents should take a vitamin D supplement of 400 IU/day unless they drink four 8-ounce servings of fortified milk each day. […] Children who have rickets or a condition that puts them at risk for low vitamin D, such as kids taking anti-seizure medications or those who have problems absorbing nutrients, may need higher doses of vitamin D. […] With proper treatment, signs and symptoms of rickets can start to resolve within a week. Some people may require more than just a dietary supplement or sunshine. Skeletal deformities may need surgery or bracing. […] In general, however, rickets is a condition for which conventional and natural therapies are one and the same. Most cases can be resolved with sunshine and sufficient vitamin D in the diet or via supplements.
- #3 Rickets Types and Treatment with Vitamin D and Analogueshttps://www.mdpi.com/2072-6643/16/3/416
With regard to the mode of administration, the oral route should be preferred; indeed, a study carried out on an adult population showed that orally delivered vitamin D led to higher serum 25(OH)vitamin D concentrations after 3 and 6 months compared to intramuscular administration. Though vitamin D2 and D3 have been considered equally active for many years, current knowledge indicates that vitamin D2 efficacy is less than a third of that of vitamin D3. Studies have also demonstrated that daily vitamin D2 and vitamin D3 intakes are equally effective, whereas vitamin D3 should be recommended in case of a single dose treatment due to its longer half-life. The chemical structures of ergocalciferol and cholecalciferol are similar but not identical; vitamin D3 has a double bond and an additional methyl group on the side chain, and it is supposed that its different structure may identify cholecalciferol as the preferred substrate in different steps of the vitamin D metabolism pathway. There are data suggesting that differences in the side chains of the two forms of vitamin D directly influence the hepatic vitamin D hydroxylation rate, with vitamin D3 thought to be the preferred substrate for hepatic 25-hydroxylase. Vitamin D3 and its metabolites also have a higher affinity to vitamin D binding protein compared to vitamin D2. In addition to these metabolic differences between the two forms of vitamin D, vitamin D3 degradation requires an additional step compared to vitamin D2, suggesting a higher degradation rate for vitamin D2 than for vitamin D3.
- #3 Rickets guidance: part IIâmanagementhttps://pmc.ncbi.nlm.nih.gov/articles/PMC9395459/
The primary treatment goal is to correct or at least improve rickets/osteomalacia based on clinical and biochemical parameters. […] Patients should be treated with ergocalciferol (vitamin D2) or cholecalciferol (vitamin D3) at a minimal dose of 2000 IU (50 g) per day in conjunction with 500 mg oral calcium per day, either as a dietary intake or supplements, for a minimum of 3 months. […] The duration of therapy should be individually tailored, based on treatment response. Combined treatment is recommended, as the diet of children and adolescents with nutritional rickets is usually low in both vitamin D and calcium. […] In patients with vitamin D-dependent rickets type 1A, which is due to mutations in CYP27B1, the gene encoding 1-alpha hydroxylase, patients are treated lifelong with physiologic 1,25-dihydroxyvitamin D (1,25(OH)2D) doses, given twice daily due to its short half-life.
- #3 Rickets: Not a Disease of the Past | AAFPhttps://www.aafp.org/pubs/afp/issues/2006/0815/p619.html
Because vitamin Ddependent rickets, type I is caused by lack of production of calcitriol, treatment requires the replacement of that active product. […] Familial hypophosphatemic rickets is treated with oral phosphorus and calcitriol (Rocaltrol), whereas hereditary hypophosphatemic rickets with hypercalciuria requires replacement of oral phosphorus alone. […] Investigators stress that treatment begun early in life lessens the disease burden.
- #3 Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia | Nature Reviews Nephrologyhttps://www.nature.com/articles/s41581-019-0152-5
We recommend an initial dose of 20-60 mg/kg body weight daily (0.7-2.0 mmol/kg daily) of elemental phosphorus in infants and preschool children, which should be adjusted according to the improvement of rickets, growth, alkaline phosphatase (ALP) and parathyroid hormone (PTH) levels. […] We recommend phosphate supplements should be taken as frequently as possible, for example, 4-6 times daily in young patients with high ALP levels. […] We recommend the use of low doses in patients with mild phenotypes, for instance, infants diagnosed by family screening. […] We recommend an initial dose of calcitriol of 20-30 ng/kg body weight daily or alfacalcidol of 30-50 ng/kg body weight daily. […] We recommend treatment in symptomatic adults with X-linked hypophosphatemia (XLH) by active vitamin D together with oral phosphorus (phosphate salts) to reduce osteomalacia and its consequences and to improve oral health.
- #3 Rickets: Definition, Symptoms, Causes & Treatmenthttps://my.clevelandclinic.org/health/diseases/22459-rickets
Several varieties of fish (especially sockeye salmon and rainbow trout) are especially rich in vitamin D. Several foods are also fortified with vitamin D, which means that vitamin is added to them. Milk, orange juice and cereals are often fortified this way. […] Rickets is a childhood disease where your child’s bones are too soft, causing their bones to warp, bend and break more easily. Most cases of rickets are curable.
- #4 Rickets Types and Treatment with Vitamin D and Analogueshttps://www.mdpi.com/2072-6643/16/3/416
Vitamin D treatment is recommended for at least 12 weeks, though some children may require longer treatment duration. At the end of the treatment period, maintenance therapy with different doses (400â1000 IU/day) according to age is recommended. […] As for vitamin D-dependent rickets, treatment is based on the combined administration of an active vitamin D metabolite and calcium salts. The most commonly used active metabolites are calcitriol, which regulates the active transport of calcium from the intestine and suppresses the secretion of parathyroid hormone, and alfacalcidiol, which does not require renal activation. Calcitriol has a half-life of approximately 5â8 h; thus, at least 2â3 daily doses are required. In contrast, alfacalcidiol, despite having a shorter efficacy, has a longer half-life (approximately 24 h), allowing a single daily administration. However, their clinical efficacy is overlapping.
- #4 Rickets guidance: part IIâmanagementhttps://pmc.ncbi.nlm.nih.gov/articles/PMC9395459/
Patients with vitamin D-dependent rickets type 1B, which is due to mutations in CYP2R1 resulting in impaired 25-hydroxylation of vitamin D2 and vitamin D3 to 25(OH)D should be treated with calcidiol (also called calcifediol or 25-hydroxy-vitamin-D), which bypasses the defect in 25-hydroxylation, plus supplemental calcium. […] The recommended starting dose of burosumab in children amounts to 0.8 mg/kg body weight. It should be given in 2-weekly intervals as subcutaneous injections. Burosumab should be titrated in 0.4 mg/kg increments to raise fasting serum phosphate levels into the lower end of the normal reference range for age with a maximal dose of 2.0 mg/kg body weight.
- #4 Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia | Nature Reviews Nephrologyhttps://www.nature.com/articles/s41581-019-0152-5
We recommend using substantially lower doses of active vitamin D and oral phosphate than are used in children. […] We recommend a starting dose of burosumab of 1.0 mg/kg body weight (maximum dose of 90 mg) given subcutaneously every 4 weeks. […] We recommend considering burosumab treatment in adults with X-linked hypophosphatemia (XLH) with the following features: persistent bone and/or joint pain due to XLH and/or osteomalacia that limits daily activities; pseudofractures or osteomalacia-related fractures; and insufficient response or refractory to conventional therapy.
- #5 Rickets Types and Treatment with Vitamin D and Analogueshttps://www.mdpi.com/2072-6643/16/3/416
Treatment of genetic vitamin D-dependent rickets must be continued for life, with patient tailored doses. The treatment of genetic vitamin-D-dependent tickets type 1B is based on the administration of cholecalciferol, i.e., at different doses, depending on the heterozygous or monozygous mutation status, or of calcifediol. Several studies have shown that oral calcifediol causes a faster increase in serum 25OH-vitamin D compared to oral cholecalciferol, also requiring lower doses. Patients with genetic vitamin D-dependent rickets type 2 without alopecia show a better response to treatment than patients with alopecia. Therapeutic monitoring is very important to control serum calcium, phosphate, ALP, PTH, and urinary calcium excretion. […] The treatment of FGF23-independent forms of hypophosphatemic rickets, due to genetic defects inhibiting renal tubular phosphate reabsorption, only requires oral phosphate, as these forms are associated with excessive 1,25 (OH)2 vitamin D production. Finally, hypophosphatemic rickets forms caused by Fanconi syndrome, such as nephropathic cystinosis and Dentâs disease, require disease-specific treatment in addition to phosphate supplements of active forms of vitamin D. FGF23-associated hypophosphatemic rickets has usually been treated with frequent doses of oral phosphate salts in combination with active forms of vitamin D. Inorganic phosphate salts require multiple administrations throughout the day (4â6 doses) due to their short half-life and to reduce intestinal side effects (e.g., diarrhea, abdominal discomfort).
- #7 Rickets Types and Treatment with Vitamin D and Analogueshttps://www.mdpi.com/2072-6643/16/3/416
A randomized, controlled trial performed with children aged 1â12 years, who were randomly selected to receive either Burosumab therapy bi-weekly for 40 weeks or conventional therapy for 40 weeks, showed that the severity of rickets and the body height achieved were significantly improved in the group treated with the monoclonal antibody compared to conventional therapy. Besides this, a phase 2 study performed with children with XLH, aged 1â4 years, showed a significant increase in serum circulating phosphate concentrations. […] Overall, Burosumab treatment has proved to be more effective than conventional therapy in improving rickets, growth, lower limb deformities, and walking in children with XLH from 1 to 12 years of age. Some patients with XLH have also been treated with growth hormone (GH) in combination with conventional treatment to improve growth. GH is able to promote phosphate homeostasis by modulating the ratio of tubular maximum reabsorption of phosphate (TmP) to glomerular filtration rate (GFR) (TmP/GFR), but the effects appear to be transient. Patients with XLH, except for a few sporadic cases, do not show GH deficiency in stimulation tests. Therapeutic trials with associated administration of GH have shown inconclusive results. In conclusion, there are no clinical or biochemical data to predict a possible positive response to GH therapy in XLH patients. Finally, Burosumab represents a second line therapy in adults with XLH rickets with osteomalacia and pseudofractures who are not responding to conventional treatment, or in patients who are intolerant to conventional treatment.