Context Hereditary 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.Objective This 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.Methods This 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.Results Skeletal 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.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.
基金：
National Key Research and Development Program of China [2021YFC2501700, 2021YFC2501701, 2021YFC2501704]; National Natural Science Foundation of China [82100946, 82270938]; Young Elite Scientists Sponsorship Program by Beijing Association for Science and Technology [BYESS2023171]; Chinese Academy of Medical Sciences Innovation Fund for Medical Sciences [2021-I2M-1-002]; National High Level Hospital Clinical Research Funding [2022-PUMCH-D-006]; Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences [2023-PT320-10]
第一作者机构：[1]Chinese Acad Med Sci & Peking Union Med Coll, State Key Lab Complex Severe & Rare Dis, Key Lab Endocrinol, Natl Hlth Commiss,Dept Endocrinol,Peking Union Med, 1 Shuaifuyuan,Wangfujing St, Beijing 100730, Peoples R China
共同第一作者：
通讯作者：
通讯机构：[1]Chinese Acad Med Sci & Peking Union Med Coll, State Key Lab Complex Severe & Rare Dis, Key Lab Endocrinol, Natl Hlth Commiss,Dept Endocrinol,Peking Union Med, 1 Shuaifuyuan,Wangfujing St, Beijing 100730, Peoples R China[*1]Department of Endocrinology, Key Laboratory of Endocrinology, National Commission of Health, State Key Laboratory for Complex, Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 1 Shuaifuyuan, Wangfujing Street, Dongcheng District, Beijing 100730, China
推荐引用方式(GB/T 7714)：
Chen Rong,Cui Lijia,Du Juan,et al.Alteration of Bone Microarchitecture in Hereditary Distal RTA Patients With SLC4A1 Gene Mutation: Assessed by HR-pQCT[J].JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM.2024,doi:10.1210/clinem/dgae533.
APA：
Chen, Rong,Cui, Lijia,Du, Juan,Zhang, Shujie,Jiang, Yan...&Xia, Weibo.(2024).Alteration of Bone Microarchitecture in Hereditary Distal RTA Patients With SLC4A1 Gene Mutation: Assessed by HR-pQCT.JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM,,
MLA：
Chen, Rong,et al."Alteration of Bone Microarchitecture in Hereditary Distal RTA Patients With SLC4A1 Gene Mutation: Assessed by HR-pQCT".JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM .(2024)
医学