METHODS: Retrospective chart reviews were conducted to collect the clinical and biochemical data of 8 patients with HVDRR from 5 Saudi families. Four patients received only high-dose calcium, while the remaining 4 received adjuvant cinacalcet. Serum chemistry and PTH levels were measured before and during cinacalcet treatment. Gene sequencing was performed to identify the disease-causing mutation.
RESULTS: All 8 patients exhibited alopecia and secondary hyperparathyroidism. Other clinical and biochemical features of rickets were present to varying degrees. Genetic analysis revealed 3 distinct mutations: a ligand-binding domain mutation in 3 unrelated patients, a ligand-binding domain mutation in 2 sisters, and a missense DNA-binding domain mutation in 3 brothers. While the overall response to therapy was variable, none of the 4 patients who received adjunctive cinacalcet developed hypocalcaemia, and there was some initial promise in improving serum PTH levels.
CONCLUSIONS: This series provides new insight into the clinical and biochemical characteristics as well as treatment responses in Saudi children with HVDRR. The findings suggest that cinacalcet is a safe and potentially valuable adjuvant in this understudied population; however, further research is required to verify these results.
方法:进行回顾性图表回顾,以收集来自5个沙特家庭的8例HVDRR患者的临床和生化数据。四名患者仅接受高剂量钙,其余4人接受西那卡塞佐剂治疗。在西那卡塞治疗之前和期间测量血清化学和PTH水平。进行基因测序以鉴定致病突变。
结果:所有8例患者均表现为脱发和继发性甲状旁腺功能亢进。病的其他临床和生化特征均有不同程度的表现。遗传分析显示3个不同的突变:3个无关患者的配体结合域突变,2姐妹中的配体结合域突变,和三个兄弟的错义DNA结合域突变。虽然对治疗的总体反应是可变的,接受辅助西那卡塞治疗的4例患者均未出现低钙血症,在改善血清PTH水平方面有一些初步的希望。
结论:本系列为沙特HVDRR儿童的临床和生化特征以及治疗反应提供了新的见解。研究结果表明,西那卡塞在这个未被研究的人群中是一种安全且潜在有价值的佐剂;然而,需要进一步的研究来验证这些结果。