Generalized arterial calcification of infancy: two siblings with prolonged survival

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• 作者：Giovanni Ciana (1)
  Antonella Trappan (1)
  Bruno Bembi (2)
  Alessandra Benettoni (3)
  Giampaolo Maso (4)
  Floriana Zennaro (5)
  Nico Ruf (6)
  Dirk Schnabel (7)
  Frank Rutsch (8)
  
• 关键词：Generalized arterial calcification of infancy ; GACI ; ENPP1 ; Hypophosphatemia
• 刊名：European Journal of Pediatrics
• 出版年：2006
• 出版时间：April 2006
• 年：2006
• 卷：165
• 期：4
• 页码：258-263
• 全文大小：196KB
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  3. Eronen M, Pohjavuori M, Heikkila P (2001) Fatal outcome of two siblings with idiopathic arterial calcification diagnosed in utero. Pediatr Cardiol 22:167-69 CrossRef
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  11. Rutsch F, Schauerte P, Kalhoff H, Petrarulo M, August C, Diekmann L (2000) Low levels of urinary inorganic pyrophosphate indicating systemic pyrophosphate deficiency in a boy with idiopathic infantile arterial calcification. Acta Paediatr 89:1265-269 CrossRef
  12. Rutsch F, Vaingankar S, Johnson K, Goldfine I, Maddux B, Schauerte P, Kalhoff H, Sano K, Boisvert WA, Superti-Furga A, Terkeltaub R (2001) PC1-nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic arterial calcification. Am J Pathol 158:543-54
  13. Rutsch F, Ruf N, Vaingankar S, Toliat MR, Suk A, H?hne W, Schauer G, Lehmann M, Roscioli T, Schnabel D, Epplen JT, Knisely A, Superti-Furga A, McGill JH, Filippone M, Sinaiko AR, Vallance H, Hinrichs B, Smith W, Ferre M, Terkeltaub R, Nürnberg P (2003) Mutations in ENPP1 are associated with ‘idiopathic-infantile arterial calcification. Nat Genet 34:379-81 CrossRef
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• 作者单位：Giovanni Ciana (1)
  Antonella Trappan (1)
  Bruno Bembi (2)
  Alessandra Benettoni (3)
  Giampaolo Maso (4)
  Floriana Zennaro (5)
  Nico Ruf (6)
  Dirk Schnabel (7)
  Frank Rutsch (8)
  
  1. S.C. di Neonatologia e Terapia Intensiva Neonatale, Istituto per l’Infanzia Burlo Garofolo, Via dell’Istria 65/1-34100, Trieste, Italy
  2. Unità Operativa di Malattie Metaboliche, Istituto per l’Infanzia Burlo Garofolo, Via dell’Istria 65/1-34100, Trieste, Italy
  3. Servizio di Cardiologia, Istituto per l’Infanzia Burlo Garofolo, Via dell’Istria 65/1-34100, Trieste, Italy
  4. Clinica Ostetrica, Istituto per l’Infanzia Burlo Garofolo, Via dell’Istria 65/1-34100, Trieste, Italy
  5. Servizio di Radiologia, Istituto per l’Infanzia Burlo Garofolo, Via dell’Istria 65/1-34100, Trieste, Italy
  6. Max-Delbrück-Center for Molecular Medicine, Berlin-Buch, Germany
  7. Department of Pediatric Endocrinology, University Children’s Hospital Charité, Berlin, Germany
  8. Department of General Pediatrics, University Children’s Hospital Münster, Münster, Germany
  

文摘

In generalized arterial calcification of infancy (OMIM no.?208000), calcification of the media and proliferation of the intima lead to arterial stenoses. Most affected patients present with untreatable arterial hypertension and die within the first months of life. The disease has recently been linked to mutations in ENPP1. We report two siblings with prolonged survival, both of whom carry the compound heterozygous ENPP1 mutations c.913C>A and c.1164+2T>A. In both siblings, spontaneous regression of arterial calcifications occurred, and antihypertensive treatment could be tapered off gradually. In some patients, the natural course of GACI may be more favourable than previously assumed.