Heart transplant and 2-year follow up in a child with generalized arterial calcification of infancy
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- 作者：Isabella Giovannoni (1)
Francesco Callea (1)
Lorena Travaglini (2)
Antonio Amodeo (3)
Paola Cogo (3)
Aurelio Secinaro (4)
Carla Bizzarri (5)
Renato Cutrera (6)
May El Hachem (7)
Paola Francalanci (1) - 关键词：Generalized arterial calcification of infancy ; Pseudoxanthoma elasticum ; ABCC6 ; Heart transplant
- 刊名：European Journal of Pediatrics
- 出版年：2014
- 出版时间：December 2014
- 年：2014
- 卷：173
- 期：12
- 页码：1735-1740
- 全文大小：4,069 KB
- 参考文献：1. Edouard T, Chabot G, Miro J, Buhas DC, Nitschke Y, Lapierre C, Rutsch F, Alos N (2011) Efficacy and safety of 2-year etidronate treatment in a child with generalized arterial calcification of infancy. Eur J Pediatr 170(12):1585-590 CrossRef
2. Glatz AC, Pawel BR, Hsu DT, Weinberg P, Chrisant MR (2006) Idiopathic infantile arterial calcification: two case reports, a review of the literature and a role for cardiac transplantation. Pediatr Transplant 10(2):225-33, Review CrossRef
3. Le Boulanger G, Labrèze C, Croué A, Schurgers LJ, Chassaing N, Wittkampf T, Rutsch F, Martin L (2010) An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. Am J Med Genet A 152A(1):118-23 CrossRef
4. Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, G?ring HH, Johnson EW, De Paepe A, Pope FM, Pasquali-Ronchetti I, Bercovitch L, Marais AS, Viljoen DL, Terry SF, Boyd CD (2001) A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. Am J Hum Genet 69:749-64 CrossRef
5. Li Q, Schumacher W, Jablonski D, Siegel D, Uitto J (2012) Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene. Br J Dermatol 166(5):1107-111 CrossRef
6. Marrott PK, Newcombe KD, Becroft DM, Friedlander DH (1984) Idiopathic infantile arterial calcification with survival to adult life. Pediatr Cardiol 5((2):119-22 CrossRef
7. Meradji M, de Villeneuve VH, Huber J, de Bruijn WC, Pearse RG (1978) Idiopathic infantile arterial calcification in siblings: radiologic diagnosis and successful treatment. J Pediatr 92(3):401-05 CrossRef
8. Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, Le Merrer M, Guest G, Lambot K, Tazarourte-Pinturier MF, Chassaing N, Roche O, Feenstra I, Loechner K, Deshpande C, Garber SJ, Chikarmane R, Steinmann B, Shahinyan T, Martorell L, Davies J, Smith WE, Kahler SG, McCulloch M, Wraige E, Loidi L, H?hne W, Martin L, Hadj-Rabia S, Terkeltaub R, Rutsch F (2012) Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet 90(1):25-9 CrossRef
9. Nitschke Y, Rutsch F (2012) Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin. Front Genet 3:302 CrossRef
10. Rutsch F, B?yer P, Nitschke Y, Ruf N, Lorenz-Depierieux B, Wittkampf T, Weissen-Plenz G, Fischer RJ, Mughal Z, Gregory JW, Davies JH, Loirat C, Strom TM, Schnabel D, Nürnberg P, Terkeltaub R, GACI Study Group (2008) Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. Circ Cardiovasc Genet 1(2):133-40 CrossRef
11. Sholler GF, Yu JS, Bale PM, Hawker RE, Celermajer JM, Kozlowski K (1984) Generalized arterial calcification of infancy: three case reports, including spontaneous regression with long-term survival. J Pediatr 105(2):257-60 CrossRef
12. Uitto J, Bercovitch L, Terry SF, Terry PF (2011) Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment: Summary of the 2010 PXE International Research Meeting. Am J Med Genet A 55A(7):1517-526 CrossRef - 作者单位：Isabella Giovannoni (1)
Francesco Callea (1)
Lorena Travaglini (2)
Antonio Amodeo (3)
Paola Cogo (3)
Aurelio Secinaro (4)
Carla Bizzarri (5)
Renato Cutrera (6)
May El Hachem (7)
Paola Francalanci (1)
1. Department of Pathology and Molecular Histopathology, Bambino Gesù Children’s Hospital, IRCCS, Rome Piazza Sant’Onofrio, 4 00165, Rome, Italy
2. Unit for Neuromuscular and Neurodegenerative Diseases, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy
3. Department of Cardiology and Cardiac Surgery, Pediatric Cardiac Intensive Care Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy
4. Department of Radiology, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy
5. Unit of Endocrinology and Diabetes, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy
6. Department of Pediatrics, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy
7. Department of Dermatology, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy - ISSN：1432-1076
文摘
Generalized arterial calcification of infancy (GACI, OMIM 208000) and pseudoxanthoma elasticum (PXE, OMIM 264800) are rare autosomal-recessive disorders which represent the opposite ends of the same spectrum of pathologies characterized by progressive ectopic calcification and degeneration of elastic fibers at skin, eyes, and cardiovascular level. Patients with GACI suffer from hypertension, severe myocardial ischemia, and congestive heart failure and often die within 6?months of life. On the other end, PXE is associated with considerable morbidity, rarely with mortality. GACI and PXE are associated with biallelic mutations in ENPP1 and in ABCC6. We report the case of a 4-year-old Italian child submitted to heart transplant, at 18?months old, for end-stage heart failure due to extensive myocardial infarction of the left ventricle and diffuse coronary calcifications. The histology showed generalized arterial calcification and the molecular analysis identified mutations in ABCC6. Two years after transplantation, the child shows good clinical conditions and growth with no recurrence of calcium deposits in the heart. Conclusion: Bisphosphonate therapy at present is the treatment of choice for systemic arterial involvement in GACI, and heart transplant has proven to be the definitive treatment in case with extensive myocardial infarction, as in our. Molecular analysis is mandatory for a complete diagnosis and familial counseling.