Family analysis and literature study of hereditary hypophosphatemic rickets with hypercalciuria

• Main Authors: Lufeng Wang (Author), Gulimire Kulaixi (Author), Jiazireya Zaiyinati (Author), Guzhalikezi Aibai (Author), Danyang Du (Author), Yanying Guo (Author)
• Format: Book
• Published: BMC, 2024-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Hereditary hypophosphatemia rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder characterised by reduced renal phosphate reabsorption leading to hypophosphataemia, rickets and bone pain. Here, we present a case of HHRH in a Chinese boy. Case presentation We...