Treatment of Rickets in Dent Disease (X-Linked Recessive Hypophosphatemic Rickets, CLCN5 Mutation)
This protocol addresses hypophosphatemic rickets occurring in the setting of Dent disease — an X-linked recessive disorder caused by loss-of-function mutations in CLCN5 — where clinical, biochemical, and radiological signs of rickets are present.
Clinical Scenario
Dent disease (X-linked recessive hypophosphatemic rickets) results from CLCN5 mutations that impair proximal tubule function, leading to renal phosphate wasting. Treatment is specifically indicated in patients who have confirmed clinical, biochemical, and radiological evidence of hypophosphatemic rickets.
Treatment Approach (partial overview)
Management centres on phosphate supplementation restricted to patients with confirmed signs of hypophosphatemic rickets — the complete selection criteria, regimen, and monitoring protocol are detailed in the full structured evidence-based reference.
Treatment Goal
Normalization of serum alkaline phosphatase (ALP) levels.
References
-
Dent disease also called X-linked recessive hypophosphatemic rickets is due to mutations in CLCN5 resulting in loss of function of CLCN5 in the proximal tubule which is associated with renal phosphate wasting. Treatment with phosphate supplements should be restricted to those patients presenting with clinical, biochemical and radiological signs of hypophosphatemic rickets and should aim to normalize serum ALP levels.
DOI: 10.1007/s00467-022-05505-5
View source ↗