ArticleThe Journal of clinical endocrinology and metabolism2025
Alteration of Bone Microarchitecture in Hereditary Distal RTA Patients With SLC4A1 Gene Mutation: Assessed by HR-pQCT.
Article in The Journal of clinical endocrinology and metabolism, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed.
- Impact of Antibody Immune Response and Immune Cells on Osteoporosis and Fractures.Clinics in orthopedic surgery · 2025Article
- Alteration of Bone Microarchitecture in Hereditary Distal RTA Patients With SLC4A1 Gene Mutation: Assessed by HR-pQCT.The Journal of clinical endocrinology and metabolism · 2025Article
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9 authors.
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Abstract
contextHereditary distal renal tubular acidosis caused by SLC4A1 gene mutation (SLC4A1-dRTA) is a rare hereditary form of renal tubular acidosis. Rickets or osteomalacia is a common complication of SLC4A1-dRTA and seriously affects patients' daily lives. However, studies on the bone microstructure in SLC4A1-dRTA are limited.
objectiveThis work aimed to evaluate the bone microstructure of SLC4A1-dRTA patients, compared to age- and sex-matched healthy controls and X-linked hypophosphatemic rickets (XLH) patients.
methodsThis was a retrospective study of 11 SLC4A1-dRTA patients. Clinical manifestations and biochemical and radiographical examinations were characterized. Bone microstructure was examined in 7 SLC4A1-dRTA patients, 7 healthy controls, and 21 XLH patients using high-resolution peripheral quantitative computed tomography.
resultsSkeletal symptoms, including fracture, bone pain, and lower limb deformity, were present in 72.7% of SLC4A1-dRTA patients. Short stature was present in 63.6% of the patients. SLC4A1-dRTA patients had significantly lower volumetric bone mineral density in the distal tibia and more severe deteriorated trabecular bone in the distal radius and tibia than healthy controls. SLC4A1-dRTA patients had significantly more severely deteriorated trabecular bone in the distal radius and distal tibia compared to XLH patients. With long-term alkaline therapy, SLC4A1-dRTA patients had alleviated bone pain and increased height.
conclusionSkeletal 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.
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