First report of hyperphosphatemic familial tumoral calcinosis due to homozygous GALNT3 mutation in a 16-year-old boy

Ajay Shukla; Sushil Gupta; Gargi Tignath

doi:10.18203/2320-6012.ijrms20252432

Authors

Ajay Shukla Department of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, U. P., India
Sushil Gupta Department of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, U. P., India
Gargi Tignath Department of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, U. P., India

DOI:

https://doi.org/10.18203/2320-6012.ijrms20252432

Keywords:

Autosomal trait, Gene mutation, Metabolic disorders, Surgical excision, Tumoral calcinosis

Abstract

Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare disorder HFTC is caused by a loss of function in fibroblast growth factor 23 (FGF23), leading to increased phosphate levels in the body and calcium deposition. It also has an autosomal trait with presentation early in childhood or 2^nd decade of life. Mutation of polypeptide N-acetylgalactosaminyltransferase 3 (GALNT3) and Klotho (KL) gene are seen in HFTC. We present the first reported case of a 16-year-old boy diagnosed witsh HFTC due to a homozygous GALNT3 gene mutation at exon 5 (Leu366Arg). The patient exhibited calcinosis in the left gluteal region and hyperphosphatemia. Surgical excision and genetic analysis confirmed the diagnosis. Our aim is to highlight the role of genetic screening in HFTC diagnosis and explore novel mutations, advancing research in rare metabolic disorders.

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