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Erschienen in:

29.06.2022 | Original Article

Na-Cl Co-transporter (NCC) gene inactivation is associated with improved bone microstructure

verfasst von: Wenting Qi, Zinan Yin, Hanting Liang, Yue Chi, Wei Liu, Ruizhi Jiajue, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing, Anli Tong, Weibo Xia

Erschienen in: Osteoporosis International | Ausgabe 10/2022

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Abstract

Summary

Gitelman syndrome (GS) is the disease model of the inactivation of thiazide‐sensitive sodium chloride cotransporter (NCC), which is believed to benefit bone mass and reduce fracture risk. In this study, we found that GS patients have superior bone microarchitecture, which is associated with the disease status. Several decreased bone parameters with aging in healthy controls were reversed in GS patients to a certain extent.

Purpose

To evaluate the impact of the inactivation of NCC on bone turnover and microarchitecture in Gitelman syndrome patients.

Methods

A cross-sectional study was conducted in 45 GS patients (25 males and 20 females). Serum procollagen type 1 N-terminal propeptide (P1NP), β-carboxy-terminal crosslinked telopeptide of type 1 collagen (β-CTX), and osteocalcin were measured. High-resolution peripheral quantitative computed tomography (HR-pQCT) was conducted to evaluate bone microarchitecture in GS patients and age- and sex-matched healthy controls. Areal bone mineral density (aBMD) was measured by dual-energy X-ray absorptiometry (DXA) simultaneously.

Results

GS patients had a relatively lower level of β-CTX. aBMD at several skeletal sites was improved in GS patients. HR-pQCT assessment revealed that GS patients had slightly thinner but significantly more compact trabecular bone (increased trabecular number and decreased thickness), notably decreased cortical porosity, and increased volume BMD (vBMD) at both the radius and tibia compared with controls. The disease severity, represented as the relationship with the minimum level of magnesium during the course and standard base excess, was associated with bone microarchitecture parameters after adjusting for age, sex, and BMI. The decreased vBMD and Tb.BV/TV, and increased Tb.Sp and Ct.Po with aging, were reversed in GS patients to a certain extent.

Conclusion

GS patients have superior bone microarchitecture, which suggests that the inactivation of NCC might be beneficial for avoiding osteoporosis.
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Metadaten
Titel
Na-Cl Co-transporter (NCC) gene inactivation is associated with improved bone microstructure
verfasst von
Wenting Qi
Zinan Yin
Hanting Liang
Yue Chi
Wei Liu
Ruizhi Jiajue
Yan Jiang
Ou Wang
Mei Li
Xiaoping Xing
Anli Tong
Weibo Xia
Publikationsdatum
29.06.2022
Verlag
Springer London
Erschienen in
Osteoporosis International / Ausgabe 10/2022
Print ISSN: 0937-941X
Elektronische ISSN: 1433-2965
DOI
https://doi.org/10.1007/s00198-022-06471-2

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