Growth in Familial Hypophosphatemic Vitamin-D-Resistant Rickets

McNair, Susan L.; Stickler, Gunnar B.

doi:10.1056/nejm196909042811001

Cited by 42 publications

(12 citation statements)

References 11 publications

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“…The hallmarks of this disease include a reduced serum concentration of inorganic phosphate (Pi) (1)(2)(3) and resistance to therapy with vitamin D (4)(5)(6). Current evidence suggests that the primary defect governing the genesis of XLH is an abnormality of Pi transport in the renal tubule (7).…”

Section: Introductionmentioning

confidence: 99%

Evaluation of a Role for 1,25-Dihydroxyvitamin D3 in the Pathogenesis and Treatment of X-linked Hypophosphatemic Rickets and Osteomalacia

et al. 1980

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Section: Introductionmentioning

confidence: 99%

Evaluation of a Role for 1,25-Dihydroxyvitamin D3 in the Pathogenesis and Treatment of X-linked Hypophosphatemic Rickets and Osteomalacia

et al. 1980

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“…MOSW and ROV remained normal in each patient (13.5±0.8 ,um and 1.5±0.4%, respectively), while the previously demonstrated persistent elevation of OS in patient 5 disappeared. Indices of bone cellular activity (AR and ObS) were diminished by the lowered plasma calcitriol levels in these patients (Table III) (30). With the recognition that the manifestations of XLH might be due to Pi depletion, phosphorus supplementation was added to this traditional therapeutic regimen in an attempt to raise the serum Pi concentration (31,32).…”

Section: Methodsmentioning

confidence: 99%

Healing of bone disease in X-linked hypophosphatemic rickets/osteomalacia. Induction and maintenance with phosphorus and calcitriol.

Harrell¹,

Lyles²,

Harrelson³

et al. 1985

J. Clin. Invest.

125

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Although conventional therapy (pharmacologic doses of vitamin D and phosphorus supplementation) is usually successful in healing the rachitic bone lesion in patients with X-linked hypophosphatemic rickets, it does not heal the coexistent osteomalacia. Because serum 1,25-dihydroxyvitamin D levels are inappropriately low in these patients and high calcitriol concentrations may be required to heal the osteomalacia, we chose to treat five affected subjects with high doses of calcitriol (68.2±10.0 ng/kg total body weight/d) and supplemental phosphorus (1-2 g/d) performing metabolic studies and bone biopsies before and after 5-8 mo of this therapy in each individual.Of these five patients, three (aged 13, 13, and 19

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“…At birth, length is usually normal and legs are not usually bowed . Bowing and impaired linear growth become more evident with weight bearing, especially between ages 1 and 2 years .…”

Section: Introductionmentioning

confidence: 99%

“…At birth, length is usually normal and legs are not usually bowed . Bowing and impaired linear growth become more evident with weight bearing, especially between ages 1 and 2 years . Childhood features include bowing of the femora and tibiae leading to genu varus or sometimes valgus appearance, widening of the growth plates at the end of long bones, abnormalities of the skull shape, sometimes bone pain and occasionally delays in gross motor milestones (such as difficulties in walking or running) .…”

Section: Introductionmentioning

confidence: 99%

Pharmacological management of X‐linked hypophosphataemia

Imel

White

2018

Brit J Clinical Pharma

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The most common heritable disorder of renal phosphate wasting, X-linked hypophosphataemia (XLH), was discovered to be caused by inactivating mutations in the phosphate regulating gene with homology to endopeptidases on the X-chromosome (PHEX) gene in 1995. Although the exact molecular mechanisms by which PHEX mutations cause disturbed phosphate handling in XLH remain unknown, focus for novel therapies has more recently been based upon the finding that the bone-produced phosphaturic hormone fibroblast growth factor-23 is elevated in XLH patient plasma. Previous treatment strategies for XLH were based upon phosphate repletion plus active vitamin D analogues, which are difficult to manage, fail to address the primary pathogenesis of the disease, and can have deleterious side effects. A novel therapy for XLH directly targeting fibroblast growth factor-23 via a humanized monoclonal antibody (burosumab-twza/CRYSVITA, henceforth referred to just as burosumab) has emerged as an effective, and recently approved, pharmacological treatment for both children and adults. This review will provide an overview of the clinical manifestations of XLH, the molecular pathophysiology, and summarize its current treatment.

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Growth in Familial Hypophosphatemic Vitamin-D-Resistant Rickets

Cited by 42 publications

References 11 publications

Evaluation of a Role for 1,25-Dihydroxyvitamin D3 in the Pathogenesis and Treatment of X-linked Hypophosphatemic Rickets and Osteomalacia

Evaluation of a Role for 1,25-Dihydroxyvitamin D3 in the Pathogenesis and Treatment of X-linked Hypophosphatemic Rickets and Osteomalacia

Healing of bone disease in X-linked hypophosphatemic rickets/osteomalacia. Induction and maintenance with phosphorus and calcitriol.

Pharmacological management of X‐linked hypophosphataemia

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