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Hypophosphatemic rickets developed after treatment with etidronate disodium in a patient with generalized arterial calcification in infancy.
Bone Rep. 2015 Dec; 3:57-60.BR

Abstract

Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) 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, ENPP1 is also reported as responsible for autosomal recessive hypophosphatemic rickets type 2. We show here a boy with homozygous ENPP1 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. ENPP1 could be regarded as a controller of the calcification of the whole body at least in part.

Authors+Show Affiliations

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.Department of Pediatrics, Yamagata University School of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan.Department of Pediatrics, Kumamoto University, 1-1-1 Honjo, Chuo-ku, Kumamoto 860-8556, Japan.Department of Pediatrics, Kumamoto University, 1-1-1 Honjo, Chuo-ku, Kumamoto 860-8556, Japan.Division of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, 2-8-29 Musashidai, Fuchu, Tokyo 183-8561, Japan.

Pub Type(s)

Case Reports

Language

eng

PubMed ID

28377967

Citation

Miyai, Kentaro, et al. "Hypophosphatemic Rickets Developed After Treatment With Etidronate Disodium in a Patient With Generalized Arterial Calcification in Infancy." Bone Reports, vol. 3, 2015, pp. 57-60.
Miyai K, Ariyasu D, Numakura C, et al. Hypophosphatemic rickets developed after treatment with etidronate disodium in a patient with generalized arterial calcification in infancy. Bone Rep. 2015;3:57-60.
Miyai, K., Ariyasu, D., Numakura, C., Yoneda, K., Nakazato, H., & Hasegawa, Y. (2015). Hypophosphatemic rickets developed after treatment with etidronate disodium in a patient with generalized arterial calcification in infancy. Bone Reports, 3, 57-60. https://doi.org/10.1016/j.bonr.2015.09.001
Miyai K, et al. Hypophosphatemic Rickets Developed After Treatment With Etidronate Disodium in a Patient With Generalized Arterial Calcification in Infancy. Bone Rep. 2015;3:57-60. PubMed PMID: 28377967.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hypophosphatemic rickets developed after treatment with etidronate disodium in a patient with generalized arterial calcification in infancy. AU - Miyai,Kentaro, AU - Ariyasu,Daisuke, AU - Numakura,Chikahiko, AU - Yoneda,Kaori, AU - Nakazato,Hitoshi, AU - Hasegawa,Yukihiro, Y1 - 2015/09/09/ PY - 2015/05/27/received PY - 2015/08/31/revised PY - 2015/09/02/accepted PY - 2017/4/6/entrez PY - 2015/9/9/pubmed PY - 2015/9/9/medline KW - ARHR2, autosomal recessive hypophosphatemic rickets type 2 KW - EHDP, etidronate disodium KW - ENPP1, ectonucleotide pyrophosphatase/phosphodiesterase 1 KW - Ectonucleotide pyrophosphatase/phosphodiesterase 1 KW - Etidronate disodium KW - GACI, Generalized arterial calcification of infancy KW - Generalized arterial calcification of infancy KW - Hypophosphatemic rickets KW - NPPH, nucleotide pyrophosphohydrolase KW - PPi, inorganic pyrophosphate KW - VSMCs, vascular smooth muscle cells SP - 57 EP - 60 JF - Bone reports JO - Bone Rep VL - 3 N2 - Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) 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, ENPP1 is also reported as responsible for autosomal recessive hypophosphatemic rickets type 2. We show here a boy with homozygous ENPP1 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. ENPP1 could be regarded as a controller of the calcification of the whole body at least in part. SN - 2352-1872 UR - https://www.unboundmedicine.com/medline/citation/28377967/Hypophosphatemic_rickets_developed_after_treatment_with_etidronate_disodium_in_a_patient_with_generalized_arterial_calcification_in_infancy_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S2352-1872(15)30013-9 DB - PRIME DP - Unbound Medicine ER -
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