Hypophosphatemic rickets: An unexplained early feature of craniometaphyseal dysplasia.
Hypophosphatemic rickets: An unexplained early feature of craniometaphyseal dysplasia.
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DOI：
10.1016/j.bonr.2023.101707
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发表时间：
2023-12
期刊：
影响因子：
2.5
通讯作者：
Carpenter, Thomas O.
中科院分区：
文献类型：
--
作者：
Barros, Julio Soto;Braddock, Demetrios;Carpenter, Thomas O.
颅骨骺发育不良（CMD）是一种罕见的骨骼发育不良，通常由ANKH突变引起。最常见的特征是颅面骨的早期和进行性骨质增生，这可能导致颅神经阻塞，以及长骨的干骺端张开。佝偻病很少与CMD相关，发生在疾病的早期。我们报告一位先天性肌肉萎缩症的婴儿，在一个月大时出现血清碱性磷酸酶活性升高及低血磷，三个月大时出现佝偻病的影像学改变。进一步的生化研究显示，高肾小管重吸收磷酸盐和抑制FGF 23水平一致的赤字磷可用性。在4个月大时开始磷治疗;随后在继发性甲状旁腺功能亢进出现时添加骨化三醇。在ANKH c.1124_1126del（p.Ser375del）中鉴定出一种杂合致病变异体。在19个月大时，鉴于佝偻病的校正生化特征和放射学改善，停止治疗。©作者。All rights reserved.
Craniometaphyseal dysplasia (CMD) is an infrequently occurring skeletal dysplasia often caused by a mutation in ANKH. The most common features are early and progressive hyperostosis of craniofacial bones, which may cause obstruction of cranial nerves, and metaphyseal flaring of long bones. Rarely, rickets has been associated with CMD, occurring early in the course of the disease. We report an infant with CMD who presented with elevated serum alkaline phosphatase activity and low serum phosphorus at age 1 month and radiographic changes of rickets at 3 months of age. Further biochemical investigations revealed a high tubular reabsorption of phosphate and suppressed FGF23 level congruent with a deficit of phosphorus availability. Therapy with phosphorus was started at 4 months of age; calcitriol was subsequently added upon emergence of secondary hyperparathyroidism. A heterozygous pathogenic variant in ANKH c.1124_1126del (p.Ser375del) was identified. At 19 months of age therapy was discontinued in view of the corrected biochemical profile and radiographic improvement of rickets. ©The Authors. All rights reserved.
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