Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in GALNT3 gene: Experience from Southern Turkey

Rabia Miray Kışla Ekinci,Atıl Bisgin,Sibel Balcı,Fatih Gürbüz,Mehmet Taştan,Bilgin Yüksel,Mustafa Yılmaz

doi:10.4274/jcrpe.0134

Rabia Miray Kışla Ekinci, Atıl Bisgin + Show 5 more

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https://doi.org/10.4274/jcrpe.0134

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Abstract

Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in GALNT3 gene: Experience from Southern Turkey

Highlights

Hyperphosphatemic familial tumoral calcinosis (HFTC) is a very rare disorder of phosphate homeostasis resulting from decreased fibroblast growth factor 23 (FGF23) synthesis or activity [1]
Tumoral calcinosis (TC) is a condition in which calcium crystals accumulate in soft tissues, in periarticular regions
Homozygote mutations in the GALNT3, FGF23 and KL genes were found in patients with the hyperphosphatemic hyperostosis syndrome (HHS) phenotype

Summary

CASE REPORT

Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in GALNT3 Gene: Experience from Southern Turkey. Rabia Miray Kışla Ekinci, Fatih Gürbüz, Sibel Balcı, Atıl Bişgin, Mehmet Taştan, Bilgin Yüksel, Mustafa Yılmaz. What is already known on this topic? Mutations in the FGF23, KL and GALNT3 genes cause hyperphosphatemic familial tumoral calcinosis (HFTC), which is a rare disorder. Patients with HFTC commonly present with hyperphosphatemia and tumor-like soft tissue calcifications. The main management strategy for HFTC is pain control and phosphate depletion. We describe two siblings with hyperphosphatemic familial tumoral calcinosis due to a novel homozygote GALNT3 mutation and add to the scarce literature. We wish to emphasize that physicians should consider this rare condition in the differential diagnosis of calcinosis

Introduction

Case Reports

Arterial calcifications on echocardiography

Discussion

Findings

Authorship Contributions