Idiopathic infantile arterial calcification primary prevention: Difference between revisions
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*Potential role of genetic markers in the identification of persons at risk.<ref>{{cite journal |doi=10.1093/ndt/gfm566 |title=Impact of ENPP1 genotype on arterial calcification in patients with end-stage renal failure |year=2007 |last1=Eller |first1=Philipp |last2=Hochegger|first2=Kathrin |last3=Feuchtner |first3=Gudrun M. |last4=Zitt |first4=Emanuel |last5=Tancevski |first5=Ivan |last6=Ritsch |first6=Andreas|last7=Kronenberg |first7=Florian |last8=Rosenkranz |first8=Alexander R. |last9=Patsch |first9=Josef R. |journal=Nephrology Dialysis Transplantation |volume=23 |issue=1 |pages=321–7}}</ref> There is a 75% probability to identify the two EPPN1 mutations (one paternal, one maternal) that cause IIAC. Once the mutations are identified, [[preimplantation genetic diagnosis]] (PGD) or [[chorionic villus sampling]](CVS) are possible options to identify the condition, either before or during pregnancy. | *Potential role of genetic markers in the identification of persons at risk.<ref>{{cite journal |doi=10.1093/ndt/gfm566 |title=Impact of ENPP1 genotype on arterial calcification in patients with end-stage renal failure |year=2007 |last1=Eller |first1=Philipp |last2=Hochegger|first2=Kathrin |last3=Feuchtner |first3=Gudrun M. |last4=Zitt |first4=Emanuel |last5=Tancevski |first5=Ivan |last6=Ritsch |first6=Andreas|last7=Kronenberg |first7=Florian |last8=Rosenkranz |first8=Alexander R. |last9=Patsch |first9=Josef R. |journal=Nephrology Dialysis Transplantation |volume=23 |issue=1 |pages=321–7}}</ref> There is a 75% probability to identify the two EPPN1 mutations (one paternal, one maternal) that cause IIAC. Once the mutations are identified, [[preimplantation genetic diagnosis]] (PGD) or [[chorionic villus sampling]](CVS) are possible options to identify the condition, either before or during pregnancy. | ||
*At week 20 of gestation, it is possible to detect an [[Echogenic Intracardiac Focus]] (EIF)<ref>{{cite journal |doi=10.1002/uog.7438|title=Prenatal diagnosis of idiopathic infantile arterial calcification with hydrops fetalis |year=2009 |last1=Nasrallah |first1=F. K.|last2=Baho |first2=H. |last3=Sallout |first3=A. |last4=Qurashi |first4=M. |journal=Ultrasound in Obstetrics and Gynecology |volume=34|issue=5 |pages=601–4 |pmid=19813208}}</ref> or [[intravascular]] calcifications, particularly in the [[Common iliac artery|iliac]] and [abdominal aorta]. EIF is a small bright spot seen in the baby’s heart on an ultrasound exam. This is thought to represent mineralization, or small deposits of [[calcium hydroxyapatite]],<ref>{{cite journal |doi=10.1016/S0022-3476(78)80427-2 |title=Idiopathic infantile arterial calcification in siblings: Radiologic diagnosis and successful treatment |year=1978 |last1=Meradji |first1=M. |last2=De Villeneuve|first2=V.H. |last3=Huber |first3=J. |last4=De Bruijn |first4=W.C. |last5=Pearse |first5=R.G. |journal=The Journal of Pediatrics |volume=92|issue=3 |pages=401–5 |pmid=416189}}</ref> in the muscle of the heart. EIFs are found in about 3-5% of normal pregnancies and cause no health problems. | *At week 20 of gestation, it is possible to detect an [[Echogenic Intracardiac Focus]] (EIF)<ref>{{cite journal |doi=10.1002/uog.7438|title=Prenatal diagnosis of idiopathic infantile arterial calcification with hydrops fetalis |year=2009 |last1=Nasrallah |first1=F. K.|last2=Baho |first2=H. |last3=Sallout |first3=A. |last4=Qurashi |first4=M. |journal=Ultrasound in Obstetrics and Gynecology |volume=34|issue=5 |pages=601–4 |pmid=19813208}}</ref> or [[intravascular]] calcifications, particularly in the [[Common iliac artery|iliac]] and [abdominal aorta]. EIF is a small bright spot seen in the baby’s heart on an ultrasound exam. This is thought to represent mineralization, or small deposits of [[calcium hydroxyapatite]],<ref>{{cite journal |doi=10.1016/S0022-3476(78)80427-2 |title=Idiopathic infantile arterial calcification in siblings: Radiologic diagnosis and successful treatment |year=1978 |last1=Meradji |first1=M. |last2=De Villeneuve|first2=V.H. |last3=Huber |first3=J. |last4=De Bruijn |first4=W.C. |last5=Pearse |first5=R.G. |journal=The Journal of Pediatrics |volume=92|issue=3 |pages=401–5 |pmid=416189}}</ref> in the muscle of the heart. EIFs are found in about 3-5% of normal pregnancies and cause no health problems. | ||
== References == | == References == | ||
Latest revision as of 14:08, 15 August 2013
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayokunle Olubaniyi, M.B,B.S [2]
Overview
Prevention
- Potential role of genetic markers in the identification of persons at risk.[1] There is a 75% probability to identify the two EPPN1 mutations (one paternal, one maternal) that cause IIAC. Once the mutations are identified, preimplantation genetic diagnosis (PGD) or chorionic villus sampling(CVS) are possible options to identify the condition, either before or during pregnancy.
- At week 20 of gestation, it is possible to detect an Echogenic Intracardiac Focus (EIF)[2] or intravascular calcifications, particularly in the iliac and [abdominal aorta]. EIF is a small bright spot seen in the baby’s heart on an ultrasound exam. This is thought to represent mineralization, or small deposits of calcium hydroxyapatite,[3] in the muscle of the heart. EIFs are found in about 3-5% of normal pregnancies and cause no health problems.
References
- ↑ Eller, Philipp; Hochegger, Kathrin; Feuchtner, Gudrun M.; Zitt, Emanuel; Tancevski, Ivan; Ritsch, Andreas; Kronenberg, Florian; Rosenkranz, Alexander R.; Patsch, Josef R. (2007). "Impact of ENPP1 genotype on arterial calcification in patients with end-stage renal failure". Nephrology Dialysis Transplantation. 23 (1): 321–7. doi:10.1093/ndt/gfm566.
- ↑ Nasrallah, F. K.; Baho, H.; Sallout, A.; Qurashi, M. (2009). "Prenatal diagnosis of idiopathic infantile arterial calcification with hydrops fetalis". Ultrasound in Obstetrics and Gynecology. 34 (5): 601–4. doi:10.1002/uog.7438. PMID 19813208.
- ↑ Meradji, M.; De Villeneuve, V.H.; Huber, J.; De Bruijn, W.C.; Pearse, R.G. (1978). "Idiopathic infantile arterial calcification in siblings: Radiologic diagnosis and successful treatment". The Journal of Pediatrics. 92 (3): 401–5. doi:10.1016/S0022-3476(78)80427-2. PMID 416189.