A rare disorder: tumoral calcinosis and cirrhosis

Allameh, Seyyed Farshad; Ghadiri‐Anari, Akram; Gharabaghi, Mehrnaz Asadi; Nakhjavani, Manouchehr

doi:10.1136/bcr.06.2010.3082

Cited by 2 publications

(1 citation statement)

References 20 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The ten substitutions in FGF23 [18,19,20,21,22,23,24,25] (table 1) cannot be identified by standard restriction fragment length polymorphism (RFLP), and the only method of detecting these defects is DNA sequencing. DNA sequencing could be missing or unaffordable in some diagnostic labs in the world [26,27,28]. In this investigation, we report a rapid, simple, reliable and inexpensive method to identify gain (ADHR) or loss (HFTC) of function in FGF23 using an amplification refractory mutation system (ARMS-PCR).…”

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

View full text Add to dashboard Cite

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.

show abstract

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

View full text Add to dashboard Cite

show abstract

Familial hyperphosphatemic tumoral calcinosis: A rare case report from Syria

Al Abdulrahman,

Eed,

Kurdy

et al. 2024

Clinical Case Reports

View full text Add to dashboard Cite

Key Clinical MessageTumoral calcinosis is a very rare disease mainly caused by a disturbance in phosphate metabolism. It is advisable to contemplate screening more organs such as testes, thyroid, and spleen in patients with TC. This study provides insight into tumoral calcinosis for physicians in the region and encourages future work on the matter.AbstractFamilial hyperphosphatemic tumoral calcinosis (FHTC) characterized by progressive deposition of calcium phosphate crystals in soft tissues. Tumoral calcinosis (TC) is often underdiagnosed in Syria as it cannot be confirmed without genetic testing, which is unavailable in Syria. We present the first reported case from Syria of a man with TC. This case has findings that were not reported in other cases such as testicular calcification, brain calcification, enlarged thyroid, and splenomegaly. Determining these genes in the case presented wasn't possible and future studies need to overcome this hurdle.

show abstract

A rare disorder: tumoral calcinosis and cirrhosis

Cited by 2 publications

References 20 publications

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

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

Familial hyperphosphatemic tumoral calcinosis: A rare case report from Syria

Contact Info

Product

Resources

About