Hypophosphatemic rickets

Jagtap, Varsha S.; Sarathi, Vijaya; Lila, Anurag; Bandgar, Tushar; Menon, P. S. N.; Shah, Nalini

doi:10.4103/2230-8210.93733

Cited by 56 publications

(44 citation statements)

References 37 publications

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“…The biochemical findings differ between the two groups of rickets while the skeletal changes are clinically similar 3,4 although there are some differences in clinical presentation. Management of rickets depends on the underlying cause.…”

Section: Introductionmentioning

confidence: 85%

“…Table II shows the important differences in the biochemical findings between calciopaenic and phosphopaenic rickets. 1,3,4,8 The commonest cause of calciopaenic rickets is vitamin D deficiency which is easily corrected by oral administration of vitamin D. 3 X-linked hypophosphataemic rickets is the most common form of phosphopaenic rickets and is currently treated with calcitriol and phosphate supplements. 9,10 In South Africa, there are little published data on the prevalence and presentation of the different types of rickets in children.…”

Section: Introductionmentioning

confidence: 99%

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Comparative study of children with calciopaenic and phosphopaenic rickets seen at Chris Hani Baragwanath Hospital

Agaba¹,

Jm²,

Thandrayen³

2016

SA orthop. j.

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Introduction: The majority of causes of rickets can be divided into two large pathogenic groups, namely calciopaenic and phosphopaenic. Few studies have compared the clinical and biochemical presentations of the two forms of rickets. The aim of this study was to compare the demographic, clinical and biochemical presentations and response to therapy of children with calciopaenic and phosphopaenic rickets.

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Section: Introductionmentioning

confidence: 85%

Section: Introductionmentioning

confidence: 99%

Comparative study of children with calciopaenic and phosphopaenic rickets seen at Chris Hani Baragwanath Hospital

Agaba¹,

Jm²,

Thandrayen³

2016

SA orthop. j.

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“…1,2 Within this group, the most common form is X-linked hypophosphataemic rickets (XLH). 3 Rickets may be associated with a variety of cranial bone disorders -craniosynostosis and the presence of cerebellar tonsillar descent being the most notablethat can result in an increase in intracranial pressure.…”

Section: Discussionmentioning

confidence: 99%

Patulous Subarachnoid Space of the Optic Nerve Associated with X-Linked Hypophosphatemic Rickets

Galvez-Ruiz

Chaudhry

2013

Neuro-Ophthalmology

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Although the deficiency forms are the most common manifestations of rickets, there are other forms of rickets that are resistant to vitamin D. Of these, the most common is X-linked hypophosphatemic rickets. Rickets represents a group of multiple cranial bone disorders-craniosynostosis and the presence of Chari I malformation being the most notable-that explain the increase in intracranial pressure. We present a 4-yearold patient with an unusual association of X-linked hypophosphataemic rickets, bilateral proptosis, and prominent bilateral widening of the optic nerve sheaths. Although the association between intracranial hypertension and rickets is known, to the best of our knowledge, such a prominent distention of the subarachnoid space of the optic nerve without papilloedema has not been previously described.

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“…Also, defects in FGF23 cause autosomal dominant hypophosphatemic rickets (ADHR, OMIM 193100), the mirror image of HFTC. The vast majority of familial hypophosphatemic rickets cases are caused by the phosphate-regulating gene homologous to endopeptidases on the X chromosome (PHEX) while the FGF23 gain of function mutations cause the rare autosomal dominant form of hypophosphatemic rickets [8]. …”

Section: Introductionmentioning

confidence: 99%

Development and Validation of a Simple Diagnostic Method to Detect Gain and Loss of Function Defects in Fibroblast Growth Factor-23

Ramadan

Shawar²,

Ghamdi³

2016

Horm Res Paediatr

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Background: Fibroblast growth factor-23 (FGF23) is a bone-derived hormone that regulates the homeostasis of phosphate and vitamin D. Three substitutions in the hormone are reported to cause autosomal dominant hypophosphatemic rickets and seven substitutions to cause autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC). Both disorders are rare in the general population and occur most often in the Eastern Mediterranean region and Africa. None of the mutations could be identified using standard restriction fragment length polymorphism. The only technique currently available to confirm the clinical diagnosis is DNA sequencing. Methods: Using a tri-primer ARMS-PCR, in vitro site-directed mutagenesis and DNA sequencing, we developed, verified and validated a rapid and reliable diagnostic test for the ten mutations in FGF23. Results: We generated a test for all ten mutations and confirmed each test by DNA sequencing. We increased the specificity of the test by introducing a mismatch at position -2 in the 3′-terminus of the reverse primer of the normal and the mutant sequences. Finally, using DNA sequencing, we validated the technique for FGF23/S129F substitution by testing samples from 80 individuals from two unrelated Arab families harboring HFTC. Conclusions: This inexpensive and specific method could be adopted where DNA sequencing is not available or affordable.

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Hypophosphatemic rickets

Cited by 56 publications

References 37 publications

Comparative study of children with calciopaenic and phosphopaenic rickets seen at Chris Hani Baragwanath Hospital

Comparative study of children with calciopaenic and phosphopaenic rickets seen at Chris Hani Baragwanath Hospital

Patulous Subarachnoid Space of the Optic Nerve Associated with X-Linked Hypophosphatemic Rickets

Development and Validation of a Simple Diagnostic Method to Detect Gain and Loss of Function Defects in Fibroblast Growth Factor-23

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