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 Maddede Bu Makale
🎯
Amaç & Hipotez:Yapıcıoğlu-Yıldızdaş H, Özbarlas N, Erdem S, Yılmaz MB, Özlü F, Büyükkurt S, Soyupak S, Güllü U, Karaer K.
📊
Temel Bulgular & Veri: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.
💡
Sonuç & Katkı: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
🔬Tür:Araştırma Makalesi
📍Kapsam:2016 Verileri
⚙️Değişkenler:Alan Parametreleri
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
🔖
Bu Makaleye Atıf Yap
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
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
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
Felisch H, Russell RG, Straumann F. Effect of pyrophosphate on hydroxyapatite and its implications in calcium homeostasis. Nature 1996; 212: 901-903
Menten ML, Fetterman GH. Coronary sclerosis in infancy: report of three autopsied cases, two siblings. Am J Clin Path 1948; 805-810
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
Chong CR, Hutchins GM. Idiopathic infantile arterial calcification: the spectrum of clinical presentations. Ped Develop Pathol 2008; 11: 405-415
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
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
Nagar AM, Hanchate V, Tandon A, et al. Antenatal detection of idiopathic arterial calcification with hydrops fetalis. J Ultrasound Med 2003; 22: 653-659
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.
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
Mackenzie NC, Huesa C, Rutsch F, MacRae VE. New insights into NPP1 function: lessons from clinical and animal studies. Bone 2012; 51: 961-968
Lorenz-Depiereux B, Schnabel D, Tiosano D, Häusler G, Strom TM. Loss-of-function ENPP1 mutations cause both generali