Journals / Turkish Journal of Pediatrics / 2016 / Cilt: 58 - Sayı: 4

Two newborn babies with generalized arterial calcification of infancy, two new mutations

Pages
419–423
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Here we report two new mutations in two newborn babies with GACI-1 treated with bisphosphonates, and their progress in the first year of life

📌 3 Key Takeaways

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Objective & Hypothesis:Yapıcıoğlu-Yıldızdaş H, Özbarlas N, Erdem S, Yılmaz MB, Özlü F, Büyükkurt S, Soyupak S, Güllü U, Karaer K.
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Key Findings & Data:Turk J Pediatr 2016; 58: 419-423.Idiopathic generalized arterial calcification of infancy-1 (GACI-1) is a rare and potentially lethal disease characterized by diffuse calcification of large and medium-sized arteries such as aorta, renal, pulmonary, cerebral and mesenteric arteries.
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Conclusion & Impact:Here we report two new mutations in two newborn babies with GACI-1 treated with bisphosphonates, and their progress in the first year of life
🔬Design:Research Article
📍Scope:2016 Verileri
⚙️Variables:Domain Parameters

Özet

Yapıcıoğlu-Yıldızdaş H, Özbarlas N, Erdem S, Yılmaz MB, Özlü F, Büyükkurt S, Soyupak S, Güllü U, Karaer K. Two newborn babies with generalized arterial calcification of infancy, two new mutations. Turk J Pediatr 2016; 58: 419-423.Idiopathic generalized arterial calcification of infancy-1 (GACI-1) is a rare and potentially lethal disease characterized by diffuse calcification of large and medium-sized arteries such as aorta, renal, pulmonary, cerebral and mesenteric arteries. Here we report two new mutations in two newborn babies with GACI-1 treated with bisphosphonates, and their progress in the first year of life

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Cite This Article

YILDIZDAŞ, H. Y., ÖZBARLAS, N., ERDEM, S., YILMAZ, M. B., ÖZLÜ, F., BÜYÜKKURT, S., SOYUPAK, S., GÜLLÜ, U., KARAER, K. (2016). Two newborn babies with generalized arterial calcification of infancy, two new mutations. Turkish Journal of Pediatrics, Cilt: 58 - Sayı: 4, 419–423. https://ajindex.com/articles/412239

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References (13)

  1. Rutsch F, Ruf N, Vaingankar S, et al. Mutations in ENNP1 are associated with “idiopathic’’ infantile arterial calcification. Nat Genet 2003; 34: 379-381. 2. www.omim.org/entry/208000 3. Rutsch F, Böyer P, Nitschke MS, et al. Hypophosphatemia, hyperphosphaturia, and biphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. CircCardiovasc Genet 2008; 1: 133-140
  2. Bollen M, Gijbers R, Ceulemans H, Stalmans W, Stefan C. Nucleotide pyrophosphatases/phosphodiesterases on the move. Crit Rev Biochem Mol Biol 2003; 35: 393-432
  3. Felisch H, Russell RG, Straumann F. Effect of pyrophosphate on hydroxyapatite and its implications in calcium homeostasis. Nature 1996; 212: 901-903
  4. Menten ML, Fetterman GH. Coronary sclerosis in infancy: report of three autopsied cases, two siblings. Am J Clin Path 1948; 805-810
  5. Glatz AC, Pawel BR, Hsu DT, Weinberg P, Chrisant MR. Idiopathic infantile arterial calcification: two case reports, a review of the literature and a role for cardiac transplantation. Pediatr Transplant 2006; 10: 225-233
  6. Chong CR, Hutchins GM. Idiopathic infantile arterial calcification: the spectrum of clinical presentations. Ped Develop Pathol 2008; 11: 405-415
  7. Brachet C, Mansbach AL, Clerckx A, Deltenre P, Heinrichs C. Hearing loss is a part of the clinical picture of ENPP1 loss of function mutation. Hormon Res Paediatr 2014; 81: 63-66
  8. Crade M, Lewis DF, Nageutte MP. In utero appearance of idiopathic infantile calcification: ultrasound study of a 28-week fetus. Ultrasound Obstet Gynecol 1991; 1: 284-285
  9. Nagar AM, Hanchate V, Tandon A, et al. Antenatal detection of idiopathic arterial calcification with hydrops fetalis. J Ultrasound Med 2003; 22: 653-659
  10. Heuser CC, Puchalski M, Kennedy A, et al. Radiographic and pathologic evaluation of idiopathic infantile arterial calcification. Obstet Gynecol 2010; 115: 465-468. 13. http://www.ensembl.org/index.html 14.
  11. Johnson K, Goding J, Van Etten D, et al. Linked deficiencies in extracellular PP(i) and osteopontin mediate pathologic calcification associated with defective PC-1 and ANK expression. J Bone Miner Res 2003;18:994-1004
  12. Mackenzie NC, Huesa C, Rutsch F, MacRae VE. New insights into NPP1 function: lessons from clinical and animal studies. Bone 2012; 51: 961-968
  13. Lorenz-Depiereux B, Schnabel D, Tiosano D, Häusler G, Strom TM. Loss-of-function ENPP1 mutations cause both generali