Miyai Kentaro, Ariyasu Daisuke, Numakura Chikahiko, Yoneda Kaori, Nakazato Hitoshi, Hasegawa Yukihiro
Division of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, 2-8-29 Musashidai, Fuchu, Tokyo 183-8561, Japan.
Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, 2-2-1 Honjo, Chuo-ku, Kumamoto 860-0811, Japan.
Bone Rep. 2015 Sep 9;3:57-60. doi: 10.1016/j.bonr.2015.09.001. eCollection 2015 Dec.
Ectonucleotide pyrophosphatase/phosphodiesterase 1 () was originally reported as a responsible gene for generalized arterial calcification in infancy (GACI). Though the prognosis of GACI patients is poor because of myocardial infarction and heart failure in relation to medial calcification of the coronary arteries, some patients rescued by bisphosphonate treatment have been reported. Recently, is also reported as responsible for autosomal recessive hypophosphatemic rickets type 2. We show here a boy with homozygous mutations diagnosed as having GACI in early infancy. After the diagnosis, he was treated with etidronate disodium (EHDP) in combination with antihypertensive drugs. The calcification of major arteries was diminished and disappeared by the age of eight months. He also showed mild hypophosphatemia (2.6-3.7 mg/dl) from the age of one year. After the treatment with EHDP for five years, he showed genu valgum with hypophosphatemia (2.6 mg/dl). He was diagnosed as having hypophosphatemic rickets at the age of seven years. The findings that hyper-mineralization of the arteries and hypo-mineralization of the bone observed in the same patient are noteworthy. could be regarded as a controller of the calcification of the whole body at least in part.
外核苷酸焦磷酸酶/磷酸二酯酶1（）最初被报道为婴儿期全身性动脉钙化（GACI）的致病基因。尽管由于与冠状动脉中层钙化相关的心肌梗死和心力衰竭，GACI患者的预后较差，但已有报道称一些患者通过双膦酸盐治疗得以挽救。最近，也被报道为2型常染色体隐性低磷性佝偻病的致病基因。我们在此展示一名在婴儿早期被诊断为患有GACI的纯合子突变男孩。诊断后，他接受了依替膦酸二钠（EHDP）联合抗高血压药物的治疗。主要动脉的钙化在8个月大时减轻并消失。他从1岁起还出现轻度低磷血症（2.6 - 3.7毫克/分升）。在用EHDP治疗5年后，他出现膝外翻伴低磷血症（2.6毫克/分升）。他在7岁时被诊断为患有低磷性佝偻病。在同一患者中观察到动脉矿化过度和骨骼矿化不足的现象值得关注。至少在部分程度上可被视为全身钙化的调控因子。
