Alteration of Bone Microarchitecture in Hereditary Distal RTA Patients With SLC4A1 Gene Mutation: Assessed by HR-pQCT
Authors' conclusion
Skeletal lesions were common clinical manifestations in SLC4A1-dRTA patients. Compared with XLH, another common type of rickets, SLC4A1-dRTA patients had more severe trabecular bone microstructure damage, further supporting the necessity of early diagnosis and timely treatment of the disease.
Study context
- Population
- Patients with hereditary distal RTA due to SLC4A1 gene mutation11 SLC4A1-dRTA patients
- Participants
- 7 / 7 / 21
- Exposure
- SLC4A1-dRTA vs healthy controls and XLH
- SLC4A1-dRTAn = 7
- Healthy controlsn = 7reference
- XLHn = 21reference
- Outcome
- Bone microstructure by HR-pQCT
Methodological detailsage- and sex-matched healthy controls, HR-pQCT
- Age- and sex-matched healthy controls
- HR-pQCT
Main finding
As reported in the abstract
Bone microstructure (HR-pQCT)
- SLC4A1-dRTA had significantly lower volumetric BMD in the distal tibia than healthy controls
- SLC4A1-dRTA had more severely deteriorated trabecular bone in the distal radius and tibia than healthy controls
- SLC4A1-dRTA had significantly more severely deteriorated trabecular bone in the distal radius and distal tibia than XLH
Observational data: associations, not effects.
Further findings
Clinical manifestations in SLC4A1-dRTA
- Skeletal symptoms (fracture, bone pain, lower limb deformity)
- 72.7%
- Short stature
- 63.6%
Long-term alkaline therapy
- Alleviated bone pain and increased height in SLC4A1-dRTA
Original publication
Alteration of Bone Microarchitecture in Hereditary Distal RTA Patients With SLC4A1 Gene Mutation: Assessed by HR-pQCT. J Clin Endocrinol Metab. Published 16 August 2024. doi:10.
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