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Arterial calcification generalized of infancy: case report

Abstract

Clinical observation of patient with severe hypertension consequence of generalized arterial calcification. Literature review: diagnosis and treatment.

About the Authors

Nadezhda D. Savenkova
Saint-Petersburg Pediatric State Medical University
Russian Federation


Irina V. Anichkova
Saint-Petersburg state pediatric medical university
Russian Federation


Janna G. Leviashvili
Saint-Petersburg state pediatric medical university
Russian Federation


Oksana S. Osipova
Saint-Petersburg state pediatric medical university
Russian Federation


T. V. Karpova
Saint-Petersburg state pediatric medical university
Russian Federation


Lilya R. Imaeva
Republican Child Hospital
Russian Federation


Gusel M. Galieva
Republican Child Hospital
Russian Federation


Marina U. Pavlova
Republican Child Hospital
Russian Federation


References

1. Rutsch F, Böyer P, Nitschke Y et al. Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. Circ cardiovasc genet 2008;1(2):133-140

2. Ferreira CR, Ziegler SG, Gupta A et al. Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification. Am J Med Genet 2016; Wiley Online Library

3. Ramjan KA, Roscioli T, Rutsch F et al. Generalized arterial calcification of infancy: treatment with bisphosphonates. Nature clinical practice. Nat Clin Pract Endocrinol Metab 2009; 5(3): 167-172 [PubMed]

4. Rutsch F, Nitschke X Terkel R et al. Genetics in arterial calcifications piеces of a puzzle andcogs in a wheel. Circ Res 2011; 109: 578-592 [PubMed]

5. Amine M, Faten H, Rim H et al. A rare cause of death in infancy: idiopathic infantile arterial calcification. Pathologica 2015; 107(1): 29-31

6. Ciana G, Trappan A, Bembi B еt al. Generalized arterial calcification of infancy: two siblings with prolonged survival. Europ J Pediatrics 2006;165(4): 258-263

7. Glatz AC et al. Idiopathic infantile arterial calcification: two case reports, a review of the literature and a role for cardiac transplantation. Pediatr Transplant 2006;10(2): 225-233

8. Bryant JH, White WA. A case of calcification of the arteries and obliterative endarteritis associated with hydronephrosis in a child aged six months. Guy's hospital rep 1901: 17-28

9. Nitschke X Rutsch F. Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum can be caused by Mutations in either ENPP1 or ABCC6. Am J Hum Genet 2012; 90(1): 25-39

10. Milner LS, Heitner R, Thomson PD et al. Hypertension as the major problem of idiopathic arterial calcification of infancy. J Pediatr 1984; 105(6): 934-938

11. Chassaing N, Martin I, Calvas P et al. Pseudoxanthoma Elasticum: a clinical pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet 2005; 42:881-892 [PubMed]

12. OMIM: An online catalog of human genes and genetic disorders [Electronic resource]. Electronic data.Baltimore: Johns Hopkins Univ. 2015. Mode of access: http://www.omim.org/

13. Lorenz-Depiereux B, Schnabel D, Tiosano D et al. Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Am J Hum Genet 2010; 2: 267-272

14. Ruf N, Uhlenberg B, Terkeltaub R et al. The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI). Human Mutat 2005; 25(1): 98

15. Li Q, Schumacher W, Jablonski et al. Cutaneous features of Pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1. Br J Dermatol 2012; 166:1107-1111[PubMed]

16. Shaireen H, Howlett A, Amin H et al. The mystery of persistent pulmonary hypertension: an idiopathic infantile arterial calcification. BMC Рediatr 2013; 13: 107 [PubMed]


Review

For citations:


Savenkova N.D., Anichkova I.V., Leviashvili J.G., Osipova O.S., Karpova T.V., Imaeva L.R., Galieva G.M., Pavlova M.U. Arterial calcification generalized of infancy: case report. Nephrology (Saint-Petersburg). 2016;20(3):96-101. (In Russ.)

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ISSN 1561-6274 (Print)
ISSN 2541-9439 (Online)