Vitamin D-Resistant Rickets and Cinacalcet—One More Favorable Experience

Nicolescu, Ramona; Lombet, Jacques; Cavalier, Étienne

doi:10.3389/fped.2018.00376

Cited by 12 publications

(8 citation statements)

References 21 publications

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“…It also highlights the beneficial effect of using cinacalcet in achieving calcium-phosphate homeostasis through suppression of PTH secretion (secondary hyperparathyroidism) and in correcting the biochemical parameters and inducing radiological healing of rachitic deformities. 8 , 10 …”

Section: Discussionmentioning

confidence: 99%

Hereditary Vitamin-D Dependent Rickets Type II: A Case Report

et al. 2021

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Hereditary vitamin D dependent rickets type II is a rare genetic disorder in children characterized by early onset of rickets and deranged biochemical parameters. Low serum calcium level, high alkaline phosphatase, high parathyroid hormone, and high values of 1,25-dihydroxy vitamin D are characteristic biochemical findings. We are reporting a rare case of Vitamin D Dependent Rickets and subsequent improvement after addition of cinacalcet. This is a case report of a 2.5-year-child with Hereditary Vitamin D Dependent Rickets type II receiving cinacalcet as adjunct to oral calcium and calcitriol. Oral cinacalcet (0.25mg/kg/day) was added to the regimen as an adjunct after treatment failure with high dose of oral calcium and calcitriol. A significant improvement in radiological findings and normal homeostasis of calcium, phosphate and parathyroid hormone was achieved after initiation of cinacalcet.

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Section: Discussionmentioning

confidence: 99%

Hereditary Vitamin-D Dependent Rickets Type II: A Case Report

et al. 2021

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“…Secondary hyperparathyroidism is a universal feature of VDDR and will cause demineralisation of the bones. Adequate treatment of VDDR will hopefully resolve this in a timely manner, but the development of tertiary hyperparathyroidism needs to be monitored in cases of prolonged secondary hyperparathyroidism, with the use of cinacalcet considered in such cases [35]. Finally, regular biochemical monitoring is essential when treating all forms of VDDR.…”

Section: Vddr1bmentioning

confidence: 99%

Refractory Rickets

Chinoy

Padidela

2023

Indian J Pediatr

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Nutritional rickets, caused by vitamin D and/or calcium deficiency is by far the most common cause of rickets. In resource-limited settings, it is therefore not uncommon to treat rickets with vitamin D and calcium. If rickets fails to heal and/or if there is a family history of rickets, then refractory rickets should be considered as a differential diagnosis. Chronic low serum phosphate is the pathological hallmark of all forms of rickets as its low concentration in extracellular space leads to the failure of apoptosis of hypertrophic chondrocytes leading to defective mineralisation of the growth plate. Parathyroid hormone (PTH) and fibroblast growth factor 23 (FGF23) control serum phosphate concentration by facilitating the excretion of phosphate in the urine through their action on the proximal renal tubules. An increase in PTH, as seen in nutritional rickets and genetic disorders of vitamin D-dependent rickets (VDDRs), leads to chronic low serum phosphate, causing rickets. Genetic conditions leading to an increase in FGF23 concentration cause chronic low serum phosphate concentration and rickets. Genetic conditions and syndromes associated with proximal renal tubulopathies can also lead to chronic low serum phosphate concentration by excess phosphate leak in urine, causing rickets.In this review, authors discuss an approach to the differential diagnosis and management of refractory rickets.

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“…In contrast, plasma FGF23 levels are low in hypophosphatemic patients with hereditary hypophosphatemic rickets with hypercalciuria. Plasma FGF23 is low or undetectable in patients with rickets/osteomalacia arising from nutritional vitamin D and dietary calcium deficiency, VDDR (types IA, IB, IIA and IIB, and III), or in cases of rickets secondary to renal Fanconi syndrome [ 6 , 59 ]. FGF23 assay is not widely available in most of the clinical facilities in the region; we recommend that its use be limited to cases where genetic diagnosis is not available or in the absence of the family history.…”

Section: An Approach To the Diagnosis Of Xlhmentioning

confidence: 99%

Diagnosis and management of X-linked hypophosphatemia in children and adolescent in the Gulf Cooperation Council countries

et al. 2021

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Introduction X-linked hypophosphatemia (XLH) is a rare inherited cause of hypophosphatemic rickets and osteomalacia. It is caused by mutations in the phosphate-regulating endopeptidase homolog, X-linked (PHEX). This results in increased plasma fibroblast growth factor-23 (FGF23), which leads to loss of renal sodium-phosphate co-transporter expression leading to chronic renal phosphate excretion. It also leads to low serum 1,25-dihydroxyvitamin D (1,25(OH)2D), resulting in impaired intestinal phosphate absorption. Chronic hypophosphatemia in XLH leads to impaired endochondral mineralization of the growth plates of long bones with bony deformities. XLH in children and adolescents also causes impaired growth, myopathy, bone pain, and dental abscesses. XLH is the most frequent inherited cause of phosphopenic rickets/osteomalacia. Hypophosphatemia is also found in calcipenic rickets/osteomalacia as a result of secondary hyperparathyroidism. Thus, chronic hypophosphatemia is a common etiologic factor in all types of rickets. Results There is considerable overlap between symptoms and signs of phosphopenic and calcipenic rickets/osteomalacia. Wrong diagnosis leads to inappropriate treatment of rickets/osteomalacia. Nutritional rickets and osteomalacia are common in the Gulf Cooperation Council countries which include Saudi Arabia, United Arab Emirates, Kuwait, Qatar, Bahrain, and Oman. Due to high levels of consanguinity in the region, genetic causes of phosphopenic and calcipenic rickets/osteomalacia are also common. Conclusion This guideline was developed to provide an approach to the diagnosis of XLH, especially where there is no family history of the disease, and that other related conditions are not mistaken for XLH. We also guide the medical management of XLH with conventional treatment and with burosumab, a recombinant human IgG1 monoclonal antibody to FGF23.

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Vitamin D-Resistant Rickets and Cinacalcet—One More Favorable Experience

Cited by 12 publications

References 21 publications

Hereditary Vitamin-D Dependent Rickets Type II: A Case Report

Hereditary Vitamin-D Dependent Rickets Type II: A Case Report

Refractory Rickets

Diagnosis and management of X-linked hypophosphatemia in children and adolescent in the Gulf Cooperation Council countries

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