GALNT3 Mutation in Hyperphosphatemic Familial Tumoral Calcinosis - Novel Etiology of Secondary Amyloidosis.

• Tác giả: Anupam Agarwal, Sahil Arora, Renju Binoy, Pallavi Prasad, Sourabh Sharma, Himanshu Verma
• Ngôn ngữ: eng
• Thông tin xuất bản: India : Indian journal of nephrology , 2025
• Bộ sưu tập: NCBI
• ID: 56574

Tóm tắt

Tumoral calcinosis is a rare syndrome characterized by calcium salt deposition in different periarticular soft tissue regions. We report this case of tumoral calcinosis with history of persistent soft tissue calcifications for over three decades. He presented with nephrotic syndrome and kidney biopsy revealed secondary amyloidosis. Genetic evaluation revealed GALNT3 mutation and diagnosis of hyperphosphatemic familial tumoral calcinosis was made. With this case report, we want to reiterate the need to consider tumoral calcinosis in secondary amyloidosis differentials and the pivotal role of genetic workup in chronic soft tissue calcifications.