Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy
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- 作者：Thomas Edouard (1)
Gilles Chabot (1)
Joaquim Miro (2)
Daniela Christina Buhas (3)
Yvonne Nitschke (4)
Chantale Lapierre (5)
Frank Rutsch (4)
Nathalie Alos (1) - 关键词：Bisphosphonates ; ENPP1 ; Generalized arterial calcification of infancy ; Hypophosphatemia
- 刊名：European Journal of Pediatrics
- 出版年：2011
- 出版时间：December 2011
- 年：2011
- 卷：170
- 期：12
- 页码：1585-1590
- 全文大小：239KB
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Gilles Chabot (1)
Joaquim Miro (2)
Daniela Christina Buhas (3)
Yvonne Nitschke (4)
Chantale Lapierre (5)
Frank Rutsch (4)
Nathalie Alos (1)
1. Bone Metabolism Clinic, Department of Pediatrics, Sainte-Justine University Hospital, 3175 Chemin de la C?te Sainte-Catherine, Montreal, QC, H3T1C5, Canada
2. Department of Cardiology, Sainte-Justine University Hospital, Montreal, QC, Canada
3. Department of Genetics, Sainte-Justine University Hospital, Montreal, QC, Canada
4. Department of General Pediatrics, Münster University Children’s Hospital, Münster, Germany
5. Department of Radiology, Sainte-Justine University Hospital, Montreal, QC, Canada
文摘
Generalized arterial calcification of infancy (GACI, MIM#208000) is a rare autosomal recessive disorder characterized by extensive calcifications in the media of large- and medium-sized muscular arteries. Most affected children die in early infancy because of cardiac failure. GACI is linked to mutations in the ENPP1 gene, which encodes for an enzyme that generates inorganic pyrophosphate (PPi), a potent inhibitor of hydroxyapatite crystal formation. Treatment with bisphosphonates, which are synthetic PPi analogues, has been proposed as a means of reducing arterial calcifications in GACI patients, but no formalized treatment approach exists. We report on the long-term survival of a severe case of GACI linked to a novel homozygous missense mutation c.583T/C in the ENPP1 gene, diagnosed prenatally, and treated with bisphosphonates. Intravenous disodium pamidronate (three infusions at days?8, 15, and 18 of 0.25, 0.50, and 0.50?mg/kg, respectively) was changed to oral disodium etidronate (starting dose of 20?mg/kg daily, 50?mg die) at 3?weeks of age. Although the etidronate dose was maintained at 50?mg daily in our patient (corresponding to a progressive decrease from 20 to 5?mg/kg daily), the progressive resolution of arterial calcifications seen by 3?months of age was maintained until 2?years of age. Throughout the 2-year follow-up, our patient developed mild hypophosphatemia, due to renal phosphate wasting, without clinical, biochemical, or radiological sign of rickets. Conclusion: High-dose bisphosphonate therapy may not be necessary for an extended period of time in children with GACI.