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词条 Generalized arterial calcification of infancy
释义

  1. Signs and symptoms

  2. Cause

  3. Diagnosis

  4. Prevention

  5. Treatment

  6. Prognosis

  7. See also

  8. References

  9. External links

{{Infobox medical condition (new)
| name = Generalized arterial calcification of infancy
| synonyms = Idiopathic infantile arterial calcification (IIAC), arterial calcification of infancy, idiopathic arterial calcification of infancy (IACI), occlusive infantile arterial calcification, occlusive infantile arteriopathy[1]
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| field = Medical genetics
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}}Generalized arterial calcification of infancy (GACI) is an extremely rare,[2] usually fatal genetic disorder, caused by mutations in the ENPP1 gene in 75% of the subjects.[3] The condition affects infants during the first 6 months of life. This condition is inherited as an autosomal recessive pattern. It is characterized by generalised calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall.[4] Most infants die of vaso-occlusive disease, especially of the coronary arteries.[5]

Signs and symptoms

Clinical presentation is variable. First symptoms usually occur at birth but can take place in the first 6 months of life or in utero.[2]

  • Decreased fetal activity
  • Gestation with an antenatal diagnosis of hydrops fetalis[6][7]
  • Polyhydramnios
  • Low biophysical profile
  • Marked cyanosis
  • Edema[8]
  • Severe hypertension[9]
  • No or fade pulses
  • Refusal of feeds[10]
  • Tachypnea
  • Vomiting
  • Abdominal distension
  • General arterial rigidity[11]
  • Cardiac failure (most common clinical finding)
  • Strain pattern

Cause

The disease results from an inactivating mutation in the ecto-nucleotide pyrophosphatase/phosphodiesterase-1 ENPP1 gene, leading to decreased inorganic pyrophosphate (PPi), a potent inhibitor of calcium deposition in the vessel wall. This mutation allows for unregulated calcium deposition within muscular arteries. The symptoms are caused by calcification of large and medium-sized arteries, including the aorta, coronary arteries, and renal arteries. Most of the patients die by 6 months of age because of heart failure. Recently, homozygous or compound heterozygous mutations for ENPP1 gene were reported as causative for the disorder. ENPP1 regulates extracellular inorganic pyrophosphate (PPi), a major inhibiter of extracellular matrix calcification.[12]

Diagnosis

Generalized infantile arterial calcification should always be considered in infants and children presenting with hypertension, cardiac failure, or sudden death.[13] Plain radiography,[14] sonography[15] and MRI[16] can aid in the diagnosis. Postnatal gray-scale and color Doppler echocardiographic and sonographic examinations allowed noninvasive diagnosis, assessment of severity, and monitoring of progression.[17] Contrast-enhanced MR angiography with breath-hold and cardiac gating techniques can allow evaluation of the extent of the disease.[18]

  • Dilated and hypertrophied ventricles
  • Extramedullary hematopoiesis of liver [19]
  • Hypertrophy of myocardium
  • Bright and hyper-reflective myocardium[20]
  • Periarticular calcifications in the wrists, ears, shoulders, ankles and hip[21][22]
  • Heart usually looks structurally normal
  • Cardiomegaly and pulmonary plethora[20]
  • Diffuse arterial calcification involving aorta, carotid, cerebral, renal, mesenteric and cardiac arteries
  • Echo-dense aortic annulus, ascending aorta, transverse arch, descending aorta, main pulmonary artery, and coronary arteries unusually.[23]
  • Abdominal ultrasound can reveal hepatosplenomegaly, ascites, renal echogenicity and diffused arterial calcifications involving the aorta, common iliac, splenic, and renal arteries, as well as peritoneal calcifications involving the visceral peritoneum overlying the liver and intestine
  • Brain ultrasound can show dilated lateral ventricles, poorly developed corpus callosum, and leukomalacia
  • Echocardiogram can reveal a structurally normal heart, normal ventricular function, however mild concentric ventricular hypertrophy and multiple intracardiac as well as vascular calcifications[6]
  • Idiopathic arterial calcification of infancy should be suspected when there is hyperechogenicity of vessel walls, evidence of polyhydramnios or a past history of early neonatal deaths.[24]
  • DNA testing can identify one of the mutations responsible for the condition[25]

Prevention

  • Potential role of genetic markers in the identification of persons at risk.[26] There is a 75% probability to identify the two ENPP1 mutations (one paternal, one maternal) that cause GACI. 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)[27] 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,[28] in the muscle of the heart. EIFs are found in about 3-5% of normal pregnancies and cause no health problems.
  • Ultrasound can show subtle intravascular calcifications, particularly in the abdominal aorta at week 23.[29]
  • Calcification has been detected at 33 weeks' gestation.[30]

Treatment

  • Prenatal[31] and postnatal treatment with low-dose, cyclical bisphosphonates, also called diphosphonate, resulted in a complete resolution of vascular calcifications in some cases using disodium pamidronate and risedronate.[32][33][33][34][35][36]
  • PGE1 infusion is a possible therapeutic alternative for babies with idiopathic arterial calcification complicated by severe hypertension refractory to conventional treatment.[37]
  • Infants must reach a certain weight to allow for a transplant, commonly not reached.[38]

Prognosis

  • Although survival to adulthood has been reported,[39][40] sometimes with persistent hypertension and cardiovascular sequelae, most patients die within the first 6 months of life.
  • Spontaneous regression of arterial calcifications can occur, and antihypertensive treatment can be tapered off gradually. In some patients, the natural course of GACI may be more favourable than previously assumed.[41][42]
  • Despite the same genotype and similar sonographic and radiographic features in early infancy, the phenotype of GACI can vary to a great extent within one family.[43]

See also

  • ENPP1

References

1. ^{{cite journal |doi=10.1016/0002-9149(70)90798-8 |title=Idiopathic infantile arterial calcification—A misnomer? |year=1970 |last1=Witzleben |first1=C.L |journal=The American Journal of Cardiology |volume=26 |issue=3 |pages=305–9 |pmid=4196111}}
2. ^1 {{cite journal |doi=10.2350/07-06-0297.1 |title=Idiopathic Infantile Arterial Calcification: The Spectrum of Clinical Presentations |year=2008 |last1=Chong |first1=Curtis R. |last2=Hutchins |first2=Grover M. |journal=Pediatric and Developmental Pathology |volume=11 |issue=5 |pages=405–15 |pmid=17990935}}
3. ^{{cite journal |doi=10.1038/ng1221 |title=Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification |year=2003 |last1=Rutsch |first1=Frank |last2=Ruf |first2=Nico |last3=Vaingankar |first3=Sucheta |last4=Toliat |first4=Mohammad R. |last5=Suk |first5=Anita |last6=Höhne |first6=Wolfgang |last7=Schauer |first7=Galen |last8=Lehmann |first8=Mandy |last9=Roscioli |first9=Tony |last10=Schnabel |first10=Dirk |last11=Epplen |first11=Jörg T. |last12=Knisely |first12=Alex |last13=Superti-Furga |first13=Andrea |last14=McGill |first14=James |last15=Filippone |first15=Marco |last16=Sinaiko |first16=Alan R. |last17=Vallance |first17=Hillary |last18=Hinrichs |first18=Bernd |last19=Smith |first19=Wendy |last20=Ferre |first20=Merry |last21=Terkeltaub |first21=Robert |last22=Nürnberg |first22=Peter |journal=Nature Genetics |volume=34 |issue=4 |pages=379–81 |pmid=12881724|display-authors=8 }}
4. ^{{cite journal |doi=10.2214/ajr.185.2.01850530 |title=New Findings in Idiopathic Arterial Calcification of Infancy Detected by MDCT |year=2005 |last1=Greenberg |first1=S. Bruce |last2=Gibson |first2=James |journal=American Journal of Roentgenology |volume=185 |issue=2 |pages=530–2 |pmid=16037532}}
5. ^{{cite journal |doi=10.1161/CIRCGENETICS.108.797704 |title=Hypophosphatemia, Hyperphosphaturia, and Bisphosphonate Treatment Are Associated with Survival Beyond Infancy in Generalized Arterial Calcification of Infancy |year=2008 |last1=Rutsch |first1=Frank |last2=Boyer |first2=Petra |last3=Nitschke |first3=Yvonne |last4=Ruf |first4=Nico |last5=Lorenz-Depierieux |first5=Bettina |last6=Wittkampf |first6=Tanja |last7=Weissen-Plenz |first7=Gabriele |last8=Fischer |first8=Rudolf-Josef |last9=Mughal |first9=Zulf |last10=Gregory |first10=J. W. |last11=Davies |first11=J. H. |last12=Loirat |first12=C. |last13=Strom |first13=T. M. |last14=Schnabel |first14=D. |last15=Nurnberg |first15=P. |last16=Terkeltaub |first16=R. |last17=Gaci Study |first17=Group |journal=Circulation: Cardiovascular Genetics |volume=1 |issue=2 |pages=133–40 |pmid=20016754 |pmc=2794045|display-authors=8 }}
6. ^1 {{cite journal |url=http://www.fmhs.uaeu.ac.ae/neonatal/iss005/pap03.asp |title=Idiopathic infantile arterial calcification associated with leukomalacia |journal=Journal of the Arab Neonatology Forum |year=2006 |volume=3 |issue=1 |pages=15–9 |last1=Abu-Asbeh |first1=J |last2=Khan |first2=J |last3=Shallal |first3=A}}
7. ^{{cite journal |first1=Arpit M. |last1=Nagar |first2=Vijay |last2=Hanchate |first3=Ankit |last3=Tandon |first4=Hemangini |last4=Thakkar |first5=Nitin G. |last5=Chaubal |title=Antenatal Detection of Idiopathic Arterial Calcification With Hydrops Fetalis |journal=Journal of Ultrasound in Medicine |pmid=12795564 |url=http://www.jultrasoundmed.org/cgi/pmidlookup?view=long&pmid=12795564 |date=2003-06-01 |volume=22 |issue=6 |pages=653–9}}
8. ^{{cite journal |doi=10.1007/BF00442452 |title=Idiopathic infantile arterial calcification: A case report and review of the literature |year=1984 |last1=Maayan |first1=Ch. |last2=Peleg |first2=O. |last3=Eyal |first3=F. |last4=Mogle |first4=P. |last5=Rosenmann |first5=E. |last6=Ziv |first6=J. Bar |journal=European Journal of Pediatrics |volume=142 |issue=3 |pages=211–5 |pmid=6468446}}
9. ^{{cite journal |doi=10.1016/S0022-3476(84)80080-3 |title=Hypertension as the major problem of idiopathic arterial calcification of infancy |year=1984 |last1=Milner |first1=Laurence S. |last2=Heitner |first2=René |last3=Thomson |first3=Peter D. |last4=Levin |first4=Solomon E. |last5=Rothberg |first5=Alan D. |last6=Beale |first6=Peter |last7=Ninin |first7=Daniel T. |journal=The Journal of Pediatrics |volume=105 |issue=6 |pages=934–8 |pmid=6502343}}
10. ^{{cite journal |doi=10.1136/bmj.1.5015.385 |title=Generalized Arterial Calcification of Infancy |year=1957 |last1=Hunt |first1=A. C. |last2=Leys |first2=D. G. |journal=BMJ |volume=1 |issue=5015 |pages=385–6 |pmid=13396267 |pmc=1974337}}
11. ^{{cite journal |doi=10.1007/BF02015014 |title=Idiopathic infantile arterial calcification: A surviving patient with renal artery stenosis |year=1994 |last1=Thiaville |first1=A. |last2=Smets |first2=A. |last3=Clercx |first3=A. |last4=Perlmutter |first4=N. |journal=Pediatric Radiology |volume=24 |issue=7 |pages=506–8 |pmid=7885787}}
12. ^{{cite journal |doi=10.1016/S0002-9440(10)63996-X |title=PC-1 Nucleoside Triphosphate Pyrophosphohydrolase Deficiency in Idiopathic Infantile Arterial Calcification |year=2001 |last1=Rutsch |first1=Frank |last2=Vaingankar |first2=Sucheta |last3=Johnson |first3=Kristen |last4=Goldfine |first4=Ira |last5=Maddux |first5=Betty |last6=Schauerte |first6=Petra |last7=Kalhoff |first7=Hermann |last8=Sano |first8=Kimihiko |last9=Boisvert |first9=William A. |last10=Superti-Furga |first10=Andrea |last11=Terkeltaub |first11=Robert |journal=The American Journal of Pathology |volume=158 |issue=2 |pages=543–54 |pmid=11159191 |pmc=1850320|display-authors=8 }}
13. ^{{cite journal |doi=10.1017/S1047951108003168 |title=The difficulty in diagnosing idiopathic arterial calcification of infancy, its variation in presentation, and the importance of autopsy |year=2008 |last1=Hault |first1=Kathrin |last2=Sebire |first2=Neil J. |last3=Ho |first3=Siew Y. |last4=Sheppard |first4=Mary N. |journal=Cardiology in the Young |volume=18 |issue=6 |pages=624–7 |pmid=18842162}}
14. ^{{cite journal |doi=10.1007/BF00972856 |title=Idiopathic infantile arterial calcification: Roentgen diagnosis of a rare cause of coronary artery occlusion |year=1973 |last1=Lussier-Lazaroff |first1=J. |last2=Fletcher |first2=B. D. |journal=Pediatric Radiology |volume=1 |issue=4 |pages=224–8 |pmid=4779072}}
15. ^{{cite journal |doi=10.2214/ajr.146.2.249 |title=Sonographic recognition of idiopathic arterial calcification of infancy |year=1986 |last1=Rosenbaum |first1=DM |last2=Blumhagen |first2=JD |journal=American Journal of Roentgenology |volume=146 |issue=2 |pages=249–50 |pmid=3510511}}
16. ^{{cite journal |doi=10.1007/s002470050344 |title=Idiopathic arterial calcification of infancy: Sonographic and magnetic resonance findings with pathologic correlation |year=1998 |last1=Pao |first1=D. G. |last2=Deangelis |first2=G. A. |last3=Lovell |first3=Mark A. |last4=Hagspiel |first4=Klaus D. |journal=Pediatric Radiology |volume=28 |issue=4 |pages=256–9 |pmid=9545482 |last5=Hagspiel |first5=KD}}
17. ^{{cite journal |doi=10.1002/jcu.10208 |title=Idiopathic infantile arterial calcification: Sonographic findings |year=2003 |last1=Whitehall |first1=John |last2=Smith |first2=Mark |last3=Altamirano |first3=Louis |journal=Journal of Clinical Ultrasound |volume=31 |issue=9 |pages=497–501 |pmid=14595743}}
18. ^{{cite journal |doi=10.1007/s00247-005-0044-7 |title=Idiopathic infantile arterial calcification: Imaging evaluation and the usefulness of MR angiography |year=2006 |last1=Tran |first1=Kim H. |last2=Boechat |first2=M. Ines |journal=Pediatric Radiology |volume=36 |issue=3 |pages=247–53 |pmid=16429273}}
19. ^{{cite journal |last1=Sharmila |first1=N. |last2=Prashant |first2=S. Joshi |first3=Vani |last3=Ravikumar |url=http://www.ojhas.org/issue33/2010-1-11.htm |title=Idiopathic Infantile arterial calcification–A Very rare case |journal=Online Journal of Health and Allied Sciences |issn=0972-5997 |volume=9 |issue=1 |date=Jan–Mar 2010}}
20. ^1 {{cite journal |doi=10.1136/adc.2006.103093 |title=Idiopathic infantile arterial calcification presenting as fatal hypertensive cardiomyopathy |year=2006 |last1=Inwald |first1=D P |last2=Yen Ho |first2=S |last3=Shepherd |first3=M N |last4=Daubeney |first4=P E F |journal=Archives of Disease in Childhood |volume=91 |issue=11 |pages=928 |pmid=17056867 |pmc=2082956}}
21. ^{{cite journal |doi=10.1007/BF02129060 |title=Idiopathic infantile arterial calcification: Unusual features |year=1990 |last1=Vera |first1=J. |last2=Lucaya |first2=J. |last3=Garcia Conesa |first3=J. A. |last4=Aso |first4=C. |last5=Balaguer |first5=A. |journal=Pediatric Radiology |volume=20 |issue=8 |pages=585–7 |pmid=2251001}}
22. ^{{cite web |first1=Jessica |last1=Conn |first2=Shaheen |last2=Hussaini |first3=S. Bruce |last3=Greenberg |first4=Theodora |last4=Vanderzalm |first5=Sarah G. |last5=Klein |url=http://www.uams.edu/Radiology/education/residency/diagnostic/pdf/Idiopathic_Arterial_Calcification_Infant_May2005.pdf |title=Idiopathic Arterial Calcification of Infancy |publisher=University of Arkansas for Medical Sciences and Arkansas Children's Hospital |location=Little Rock, Arkansas}}
23. ^{{cite journal |doi=10.1161/01.CIR.103.2.325 |title=Prenatal Diagnosis of Idiopathic Infantile Arterial Calcification |year=2001 |last1=Levine |first1=J. C. |last2=Campbell |first2=J. |last3=Nadel |first3=A. |journal=Circulation |volume=103 |issue=2 |pages=325–6 |pmid=11208697}}
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26. ^{{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. |last10=Mayer |first10=G. |journal=Nephrology Dialysis Transplantation |volume=23 |issue=1 |pages=321–7|display-authors=8 }}
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28. ^{{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}}
29. ^http://www.sonoworld.com/Client/Cases/CaseDetails.aspx?CaseId=27{{full citation needed|date=May 2013}}
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33. ^1 {{cite journal |doi=10.1007/BF00444138 |title=Idiopathic infantile arterial calcification with cardiac, renal and central nervous system involvement |year=1989 |last1=Dyck |first1=M. |last2=Proesmans |first2=W. |last3=Hollebeke |first3=E. |last4=Marchal |first4=G. |last5=Moerman |first5=Ph. |journal=European Journal of Pediatrics |volume=148 |issue=4 |pages=374–7 |pmid=2707283}}
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35. ^{{cite journal |doi=10.1007/s00431-006-0146-8 |title=Idiopathic infantile arterial calcification: Clinical presentation, therapy and long-term follow-up |year=2006 |last1=Sluis |first1=Inge M. |last2=Boot |first2=Annemieke M. |last3=Vernooij |first3=Meike |last4=Meradji |first4=Morteza |last5=Kroon |first5=André A. |journal=European Journal of Pediatrics |volume=165 |issue=9 |pages=590–3 |pmid=16649023}}
36. ^{{cite conference|first1=Bronwyn |last1=Culling |first2=Alison |last2=Loughran-Fowlds |first3=Craig |last3=Munns |first4=David |last4=Sillence |first5=Corrina |last5=Walsh |first6=Peter |last6=Taylor |first7=Michael |last7=Buckley |first8=Frank |last8=Rutsch |first9=Tony |last9=Roscioli |url=http://www.ichg2006.com/abstract/687.htm |title=Infantile Arterial Calcification: Successful Treatment with Bisphosphonate |conference=11th International Congress of Human Genetics |date=August 6–10, 2006 |location=Brisbane, Australia |archiveurl=https://web.archive.org/web/20060512231053/http://www.ichg2006.com/abstract/687.htm |archivedate=May 12, 2006 |deadurl=yes |df= }}
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39. ^{{cite journal |doi=10.1016/S0022-3476(84)80123-7 |title=Generalized arterial calcification of infancy: Three case reports, including spontaneous regression with long-term survival |year=1984 |last1=Sholler |first1=Gary F. |last2=Yu |first2=John S. |last3=Bale |first3=Patricia M. |last4=Hawker |first4=Richard E. |last5=Celermajer |first5=John M. |last6=Kozlowski |first6=Kasimir |journal=The Journal of Pediatrics |volume=105 |issue=2 |pages=257–60 |pmid=6747757}}
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42. ^{{cite journal |doi=10.1007/BF00857661 |title=Idiopathic arterial calcification of infancy: A case with prolonged survival |year=1990 |last1=Thomas |first1=Philomena |last2=Chandra |first2=Manju |last3=Kahn |first3=Ellen |last4=McVicar |first4=Melinda |last5=Naidich |first5=James |last6=Lacorte |first6=Michael |journal=Pediatric Nephrology |volume=4 |issue=3 |pages=233–5 |pmid=2400650}}
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External links

{{Medical resources
| ICD10 = Q28.8
| ICD9 =
| ICDO =
| OMIM = 208000
| DiseasesDB =
| MedlinePlus =
| eMedicineSubj =
| eMedicineTopic =
| MeSH = C537440
| GeneReviewsNBK =
| GeneReviewsName =
| Orphanet = 51608
}}
  • [https://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=208000 OMIM 208000]

2 : Idiopathic diseases|Autosomal recessive disorders
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