Family analysis and literature study of hereditary hypophosphatemic rickets with hypercalciuria

Family analysis and literature study of hereditary hypophosphatemic rickets with hypercalciuria

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...

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Bibliographic Details
Main Authors: Lufeng Wang, Gulimire Kulaixi, Jiazireya Zaiyinati, Guzhalikezi Aibai, Danyang Du, Yanying Guo
Format: Article
Language:English
Published: BMC 2024-02-01
Series:BMC Pediatrics
Subjects:
HHRH
SLC34A3
Hypophosphatemia
Nephrocalcinosis
Hypercalciuria
Online Access:https://doi.org/10.1186/s12887-024-04589-2

Internet

https://doi.org/10.1186/s12887-024-04589-2

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