Literature DB >> 2118367

Idiopathic infantile arterial calcification in two siblings: failure of treatment with diphosphonate.

G Stuart1, C Wren, H Bain.   

Abstract

Two siblings with idiopathic infantile arterial calcification are reported. The fetal and postnatal echocardiographic features were a large pericardial effusion, thickened pulmonary and aortic valves, poor pulsation of the descending aorta, and calcification of the great vessels. In one patient calcification was first detected at 33 weeks' gestation. Despite treatment with disodium etidronate both children died.

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Year:  1990        PMID: 2118367      PMCID: PMC1024357          DOI: 10.1136/hrt.64.2.156

Source DB:  PubMed          Journal:  Br Heart J        ISSN: 0007-0769


  19 in total

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Journal:  Eur J Pediatr       Date:  1978-08-17       Impact factor: 3.183

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  10 in total

1.  Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy.

Authors:  Thomas Edouard; Gilles Chabot; Joaquim Miro; Daniela Christina Buhas; Yvonne Nitschke; Chantale Lapierre; Frank Rutsch; Nathalie Alos
Journal:  Eur J Pediatr       Date:  2011-09-20       Impact factor: 3.183

2.  Generalized arterial calcification of infancy: two siblings with prolonged survival.

Authors:  Giovanni Ciana; Antonella Trappan; Bruno Bembi; Alessandra Benettoni; Giampaolo Maso; Floriana Zennaro; Nico Ruf; Dirk Schnabel; Frank Rutsch
Journal:  Eur J Pediatr       Date:  2005-11-29       Impact factor: 3.183

3.  Idiopathic infantile arterial calcification: clinical presentation, therapy and long-term follow-up.

Authors:  Inge M van der Sluis; Annemieke M Boot; Meike Vernooij; Morteza Meradji; André A Kroon
Journal:  Eur J Pediatr       Date:  2006-04-29       Impact factor: 3.183

4.  Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.

Authors:  Yvonne Nitschke; Geneviève Baujat; Ulrike Botschen; Tanja Wittkampf; Marcel du Moulin; Jacqueline Stella; Martine Le Merrer; Geneviève Guest; Karen Lambot; Marie-Frederique Tazarourte-Pinturier; Nicolas Chassaing; Olivier Roche; Ilse Feenstra; Karen Loechner; Charu Deshpande; Samuel J Garber; Rashmi Chikarmane; Beat Steinmann; Tatevik Shahinyan; Loreto Martorell; Justin Davies; Wendy E Smith; Stephen G Kahler; Mignon McCulloch; Elizabeth Wraige; Lourdes Loidi; Wolfgang Höhne; Ludovic Martin; Smaïl Hadj-Rabia; Robert Terkeltaub; Frank Rutsch
Journal:  Am J Hum Genet       Date:  2011-12-29       Impact factor: 11.025

Review 5.  Generalized Arterial Calcification of Infancy (GACI): Optimizing Care with a Multidisciplinary Approach.

Authors:  Kenji Kawai; Yu Sato; Rika Kawakami; Atsushi Sakamoto; Anne Cornelissen; Masayuki Mori; Saikat Ghosh; Robert Kutys; Renu Virmani; Aloke V Finn
Journal:  J Multidiscip Healthc       Date:  2022-06-01

6.  Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy.

Authors:  Frank Rutsch; Petra Böyer; Yvonne Nitschke; Nico Ruf; Bettina Lorenz-Depierieux; Tanja Wittkampf; Gabriele Weissen-Plenz; Rudolf-Josef Fischer; Zulf Mughal; John W Gregory; Justin H Davies; Chantal Loirat; Tim M Strom; Dirk Schnabel; Peter Nürnberg; Robert Terkeltaub
Journal:  Circ Cardiovasc Genet       Date:  2008-12

7.  ENPP1-Fc prevents mortality and vascular calcifications in rodent model of generalized arterial calcification of infancy.

Authors:  Ronald A Albright; Paul Stabach; Wenxiang Cao; Dillon Kavanagh; Isabelle Mullen; Alexander A Braddock; Mariel S Covo; Martin Tehan; Guangxiao Yang; Zhiliang Cheng; Keith Bouchard; Zhao-Xue Yu; Stephanie Thorn; Xiangning Wang; Ewa J Folta-Stogniew; Alejandro Negrete; Albert J Sinusas; Joseph Shiloach; George Zubal; Joseph A Madri; Enrique M De La Cruz; Demetrios T Braddock
Journal:  Nat Commun       Date:  2015-12-01       Impact factor: 14.919

8.  Generalized arterial calcification of infancy with a novel ENPP1 mutation: a case report.

Authors:  Iole Brunod; Barthélémy Tosello; Sophie Hassid; Catherine Gire; Laurent Thomachot; Michel Panuel
Journal:  BMC Pediatr       Date:  2018-07-05       Impact factor: 2.125

9.  Sonological appearance of idiopathic arterial calcification in fetus: A rare case.

Authors:  B R Nagaraj; Prakash Jain; Deepu Alex Thomas; M Raghu
Journal:  Indian J Radiol Imaging       Date:  2009 Jul-Sep

10.  ENPP1-Fc prevents neointima formation in generalized arterial calcification of infancy through the generation of AMP.

Authors:  Yvonne Nitschke; Yan Yan; Insa Buers; Kristina Kintziger; Kim Askew; Frank Rutsch
Journal:  Exp Mol Med       Date:  2018-10-29       Impact factor: 8.718

  10 in total

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