Bones, Stones, and Hematuria - Connecting the Dots.

• Tác giả: Suchi Acharya, Madhura P Fadnis, Suprita Kalra, Vijay Kalrao
• Ngôn ngữ: eng
• Ký hiệu phân loại: 953.801 Ancient history to 622
• Thông tin xuất bản: India : Indian journal of nephrology , 2025
• Bộ sưu tập: NCBI
• ID: 54633

Tóm tắt

 We report a 12 yr old boy who presented with recurrent gross hematuria, polyuria and rickets with growth failure. Investigations showed bilateral renal calculi with small kidneys on ultrasonography along with hypercalciuria
  hypomagnesemia and reduced kidney function. His younger sibling also had nephrocalcinosis hypomagnesemia. The genetic analysis done in view of recurrent renal calculi with chronic kidney disease showed a homozygous missense variant (c.392G>
 A) at exon 4 of CLDN 16 gene suggestive of Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC). The younger sibling had a similar homozygous mutation and the parents were heterozygous carriers.