2019
DOI: 10.4274/jcrpe.galenos.2018.2018.0134
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Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in <i>GALNT3</i> Gene: Experience from Southern Turkey

Abstract: Inactivating autosomal recessive mutations in fibroblast growth factor 23 (FGF23), klotho (KL) and polypeptide N-acetylgalactosaminotransferase 3 ( GALNT3 ) genes lead to a rare disorder, hyperphosphatemic familial tumoral calcinosis (HFTC). Patients with HFTC present with hyperphosphatemia and tumor like soft tissue calcifications. Although 78% of patients develop their first symptoms between the ages of 2-13 years, diagnosis is usually dela… Show more

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Cited by 9 publications
(2 citation statements)
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“…HHS/HFTC are rare autosomal recessive diseases (Genetic and Rare Diseases Information Center, GARD 0010879); approximately 75 cases have been genetically described worldwide [ 8 , 10 , 11 ]. They are caused by mutations in the GALNT3, FGF23, and KL genes.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…HHS/HFTC are rare autosomal recessive diseases (Genetic and Rare Diseases Information Center, GARD 0010879); approximately 75 cases have been genetically described worldwide [ 8 , 10 , 11 ]. They are caused by mutations in the GALNT3, FGF23, and KL genes.…”
Section: Discussionmentioning
confidence: 99%
“…Therefore, this disorder can be either secondary to an inactivating mutation in GALNT3 preventing proper a-linked glycosylation of FGF23 or due to a mutation in the FGF23 gene. As a result, the mutations will lead to increased renal tubular phosphate reabsorption and usually elevated 1,25-dihydroxy vitamin D3, which promotes gastrointestinal absorption of calcium and phosphate [ 8 ]. As for the role of the KL gene, studies have shown that klotho is an additional cofactor that is required by FGF23 to exert its activity, as it converts canonical FGF receptors into specific receptors for FGF23, thus allowing their binding and signaling through the receptors [ 9 ].…”
Section: Introductionmentioning
confidence: 99%