Revisión Osteopetrosis

Revisión sistemática de Transplante de Medula de Ósea en niños con Osteopetrosis,
Reporte de 3 casos chilenos.
Población: niños (menor de 18 años) con diagnóstico de osteopetrosis.

Exposición: recibir transplante de medula ósea.
Control: manejo conservador.
Outcome: sobrevida más de 1 año.
Criterios de inclusión:
- Año de publicación 1989-2019.
- Osteopetrosis con confirmación genética.
- Transplante en niños menores de 18 años.
Criterios de exclusión:
- Año de publicación previo a 1989.
- Osteopetrosis sin confirmación diagnóstica genética.
- Transplante de medula ósea en mayores de 18 años.
Pubmed:
("Bone Marrow Transplantation/therapeutic use"[Mesh]) AND "Osteopetrosis"[Mesh])
Review Osteopetrosis: 64.
1: Boudin E, Van Hul W. Sclerosing bone dysplasias. Best Pract Res Clin
Endocrinol Metab. 2018 Oct;32(5):707-723. doi: 10.1016/j.beem.2018.06.003. Epub
2018 Jun 18. Review. PubMed PMID: 30449550.
2: De Ridder R, Boudin E, Mortier G, Van Hul W. Human Genetics of Sclerosing Bone

Disorders. Curr Osteoporos Rep. 2018 Jun;16(3):256-268. doi:
10.1007/s11914-018-0439-7. Review. PubMed PMID: 29656376.
3: Palagano E, Menale C, Sobacchi C, Villa A. Genetics of Osteopetrosis. Curr

Osteoporos Rep. 2018 Feb;16(1):13-25. doi: 10.1007/s11914-018-0415-2. Review.
PubMed PMID: 29335834.
4: Teti A, Econs MJ. Osteopetroses, emphasizing potential approaches to

treatment. Bone. 2017 Sep;102:50-59. doi: 10.1016/j.bone.2017.02.002. Epub 2017
Feb 4. Review. PubMed PMID: 28167345.
5: Wu CC, Econs MJ, DiMeglio LA, Insogna KL, Levine MA, Orchard PJ, Miller WP,
Petryk A, Rush ET, Shoback DM, Ward LM, Polgreen LE. Diagnosis and Management of
Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group. J Clin
Endocrinol Metab. 2017 Sep 1;102(9):3111-3123. doi: 10.1210/jc.2017-01127.
Review. PubMed PMID: 28655174.
6: Mikami T, Miake Y, Bologna-Molina R, Takeda Y. Ultrastructural Analyses of

Alveolar Bone in a Patient With Osteomyelitis Secondary to Osteopetrosis: A
Review of the Literature. J Oral Maxillofac Surg. 2016 Aug;74(8):1584-95. doi:
10.1016/j.joms.2016.02.016. Epub 2016 Feb 26. Review. PubMed PMID: 27000409.
7: Mughal MZ, Padidela R. Miscellaneous Bone Disorders. Endocr Dev.

2015;28:226-46. doi: 10.1159/000381048. Epub 2015 Jun 12. Review. PubMed PMID:
26138845.
8: Essabar L, Meskini T, Ettair S, Erreimi N, Mouane N. Malignant infantile

osteopetrosis: case report with review of literature. Pan Afr Med J. 2014 Jan
27;17:63. doi: 10.11604/pamj.2014.17.63.3759. eCollection 2014. Review. PubMed
PMID: 25018813; PubMed Central PMCID: PMC4085888.
9: Sobacchi C, Schulz A, Coxon FP, Villa A, Helfrich MH. Osteopetrosis: genetics,

treatment and new insights into osteoclast function. Nat Rev Endocrinol. 2013
Sep;9(9):522-36. doi: 10.1038/nrendo.2013.137. Epub 2013 Jul 23. Review. PubMed
PMID: 23877423.
10: Kulpiya A, Mahachoklertwattana P, Pakakasama S, Hongeng S, Poomthavorn P.

Hypercalcemia and altered biochemical bone markers in post-bone marrow
transplantation osteopetrosis: a case report and literature review. Pediatr
Transplant. 2012 Aug;16(5):E140-5. doi: 10.1111/j.1399-3046.2011.01475.x. Epub
2011 Feb 16. Review. PubMed PMID: 21323826.
11: Nakamura M, Udagawa N. [Osteoporosis and RANKL signal]. Clin Calcium. 2011
Aug;21(8):1149-55. doi: CliCa110811491155. Review. Japanese. PubMed PMID:
21814019. DOI ERRONEO. EN JAPONES.
12: Unnanuntana A, Rebolledo BJ, Khair MM, DiCarlo EF, Lane JM. Diseases
affecting bone quality: beyond osteoporosis. Clin Orthop Relat Res. 2011
Aug;469(8):2194-206. doi: 10.1007/s11999-010-1694-9. Review. PubMed PMID:
21107923; PubMed Central PMCID: PMC3126973.
13: Almarzooqi S, Reed S, Fung B, Boué DR, Prasad V, Pietryga D. Infantile

osteopetrosis and juvenile xanthogranuloma presenting together in a newborn: a
case report and literature review. Pediatr Dev Pathol. 2011 Jul-Aug;14(4):307-12.
doi: 10.2350/10-09-0909-CR.1. Epub 2010 Nov 5. Review. PubMed PMID: 21054159.
14: Michou L, Brown JP. Genetics of bone diseases: Paget's disease, fibrous
dysplasia, osteopetrosis, and osteogenesis imperfecta. Joint Bone Spine. 2011
May;78(3):252-8. doi: 10.1016/j.jbspin.2010.07.010. Epub 2010 Sep 19. Review.
15: Rajathi M, Austin RD, Mathew P, Bharathi CS, Srivastava KC.

Autosomal-dominant osteopetrosis: an incidental finding. Indian J Dent Res. 2010
Oct-Dec;21(4):611-4. doi: 10.4103/0970-9290.74234. Review. PubMed PMID: 21187637.
16: Steward CG. Hematopoietic stem cell transplantation for osteopetrosis.

Pediatr Clin North Am. 2010 Feb;57(1):171-80. doi: 10.1016/j.pcl.2009.11.006.
17: Bhargava A, Vagela M, Lennox CM. "Challenges in the management of fractures

in osteopetrosis"! Review of literature and technical tips learned from long-term
management of seven patients. Injury. 2009 Nov;40(11):1167-71. doi:
10.1016/j.injury.2009.02.009. Epub 2009 Jul 2. Review. PubMed PMID: 19576583.
18: Everts V, de Vries TJ, Helfrich MH. Osteoclast heterogeneity: lessons from
osteopetrosis and inflammatory conditions. Biochim Biophys Acta. 2009
Aug;1792(8):757-65. doi: 10.1016/j.bbadis.2009.05.004. Epub 2009 May 22. Review.
19: Saluja S, Bhandari S, Aggarwal S, Kapoor S. Osteopetrosis: a rare cause of

anemia--review of literature. Indian J Pathol Microbiol. 2009
Jul-Sep;52(3):363-7. doi: 10.4103/0377-4929.54995. Review. PubMed PMID: 19679962.
20: Askmyr M, Flores C, Fasth A, Richter J. Prospects for gene therapy of
osteopetrosis. Curr Gene Ther. 2009 Jun;9(3):150-9. Review. PubMed PMID:
19519360.
21: Scaramuzzo L, Messuti L, Manicone PF, Raffaelli L, Rossi B, Gallenzi P,

Berardi D, Maccauro G. Clinical and histological modifications in osteopetrotic
bone: a review. J Biol Regul Homeost Agents. 2009 Apr-Jun;23(2):59-63. Review.
22: Stark Z, Savarirayan R. Osteopetrosis. Orphanet J Rare Dis. 2009 Feb 20;4:5.
doi: 10.1186/1750-1172-4-5. Review. PubMed PMID: 19232111; PubMed Central PMCID:
PMC2654865.
23: Villa A, Guerrini MM, Cassani B, Pangrazio A, Sobacchi C. Infantile

malignant, autosomal recessive osteopetrosis: the rich and the poor. Calcif
Tissue Int. 2009 Jan;84(1):1-12. doi: 10.1007/s00223-008-9196-4. Epub 2008 Dec
12. Review. PubMed PMID: 19082854.
24: Mughal MZ. Miscellaneous bone disorders. Endocr Dev. 2009;16:191-217. doi:
10.1159/000223696. Epub 2009 Jun 3. Review. PubMed PMID: 19494668.
25: Barfield RC, Kasow KA, Hale GA. Advances in pediatric hematopoietic stem cell
transplantation. Cancer Biol Ther. 2008 Oct;7(10):1533-9. Epub 2008 Oct 18.
26: Abbaszadegan MR, Modarresi A, Khadivi-Zand F, Velayati A. Rare gross deletion

in T-cell immune regulator-1 gene in Iranian family with infantile malignant
osteopetrosis. Saudi Med J. 2008 Oct;29(10):1494-6. Review. PubMed PMID:
18946580.
27: Rikhotso E, Reyneke JP, Ferretti C. Osteopetrosis: literature review and

report of three cases. SADJ. 2008 Jun;63(5):302-7. Review. PubMed PMID: 18811081.
28: Del Fattore A, Cappariello A, Teti A. Genetics, pathogenesis and

complications of osteopetrosis. Bone. 2008 Jan;42(1):19-29. Epub 2007 Aug 30.
29: Landa J, Margolis N, Di Cesare P. Orthopaedic management of the patient with

osteopetrosis. J Am Acad Orthop Surg. 2007 Nov;15(11):654-62. Review. PubMed
PMID: 17989416.
30: Lam DK, Sándor GK, Holmes HI, Carmichael RP, Clokie CM. Marble bone disease:
a review of osteopetrosis and its oral health implications for dentists. J Can
Dent Assoc. 2007 Nov;73(9):839-43. Review. PubMed PMID: 18028760.
31: Nagase Y, Tanaka S. [Osteopetrosis]. Nihon Rinsho. 2006 Jun 28;Suppl 2:152-5.
Review. Japanese. PubMed PMID: 16817372.
32: de Baat P, Heijboer MP, de Baat C. [Osteopetrosis. Classification, etiology,

treatment options and implications for oral health]. Ned Tijdschr Tandheelkd.
2005 Dec;112(12):497-503. Review. Dutch. PubMed PMID: 16385937.
33: Tanaka S. [Disorder of bone quality in osteopetrosis]. Clin Calcium. 2005

Jun;15(6):993-9. Review. Japanese. PubMed PMID: 15930713.
34: Filho AM, de Castro Domingos A, de Freitas DQ, Whaites EJ. Osteopetrosis--a
review and report of two cases. Oral Dis. 2005 Jan;11(1):46-9. Review. PubMed
PMID: 15641967.
35: Tolar J, Teitelbaum SL, Orchard PJ. Osteopetrosis. N Engl J Med. 2004 Dec
30;351(27):2839-49. Review. PubMed PMID: 15625335.
36: Or R, Aker M, Shapira MY, Resnick I, Bitan M, Samuel S, Slavin S. Allogeneic

stem cell transplantation for the treatment of diseases associated with a
deficiency in bone marrow products. Springer Semin Immunopathol. 2004
Nov;26(1-2):133-42. Epub 2004 Sep 30. Review. PubMed PMID: 15549305.
37: Blin-Wakkach C, Bernard F, Carle GF. [Osteopetrosis, from mouse to man]. Med
Sci (Paris). 2004 Jan;20(1):61-7. Review. French. PubMed PMID: 14770365.
38: Helfrich MH. Osteoclast diseases. Microsc Res Tech. 2003 Aug 15;61(6):514-32.
39: Kocher MS, Kasser JR. Osteopetrosis. Am J Orthop (Belle Mead NJ). 2003
May;32(5):222-8. Review. PubMed PMID: 12772872.
40: Chen CJ, Lee MY, Hsu ML, Lien SH, Cheng SN. Malignant infantile osteopetrosis
initially presenting with neonatal hypocalcemia: case report. Ann Hematol. 2003
Jan;82(1):64-7. Epub 2002 Dec 11. Review. PubMed PMID: 12574970.
41: Boskey A. Mineral changes in osteopetrosis. Crit Rev Eukaryot Gene Expr.
2003;13(2-4):109-16. Review. PubMed PMID: 14696960.
42: Stoker DJ. Osteopetrosis. Semin Musculoskelet Radiol. 2002 Dec;6(4):299-305.

43: Ocal G, Berberoğlu M, Adiyaman P, Cetinkaya E, Ekim M, Aycan Z, Evliyaoğlu O.

Osteopetrosis, renal tubular acidosis without urinary concentration abnormality,
cerebral calcification and severe mental retardation in three Turkish brothers. J
Pediatr Endocrinol Metab. 2001 Nov-Dec;14(9):1671-7. Review. PubMed PMID:
11795660.
44: de Vernejoul MC, Bénichou O. Human osteopetrosis and other sclerosing

disorders: recent genetic developments. Calcif Tissue Int. 2001 Jul;69(1):1-6.
Epub 2001 Jun 5. Review. PubMed PMID: 11685426.
45: Narahara K. [Osteopetrosis, benign dominant]. Ryoikibetsu Shokogun Shirizu.

2001;(34 Pt 2):430-2. Review. Japanese. PubMed PMID: 11528821.
46: Wilson CJ, Vellodi A. Autosomal recessive osteopetrosis: diagnosis,

management, and outcome. Arch Dis Child. 2000 Nov;83(5):449-52. Review. PubMed
47: Lazner F, Gowen M, Pavasovic D, Kola I. Osteopetrosis and osteoporosis: two

sides of the same coin. Hum Mol Genet. 1999;8(10):1839-46. Review. PubMed PMID:
10469835.
48: Armstrong DG, Newfield JT, Gillespie R. Orthopedic management of

osteopetrosis: results of a survey and review of the literature. J Pediatr
Orthop. 1999 Jan-Feb;19(1):122-32. Review. PubMed PMID: 9890301.
49: Fasth A, Porras O. Human malignant osteopetrosis: pathophysiology, management

and the role of bone marrow transplantation. Pediatr Transplant. 1999;3 Suppl
1:102-7. Review. PubMed PMID: 10587979.
50: Keren T, Kaplinsky C, Dinkowitz L, Lahat E. [Osteopetrosis--new insights in

pathophysiology and treatment modalities]. Harefuah. 1998 Dec 1;135(11):525-8.
Review. Hebrew. PubMed PMID: 10911471.
51: Bénichou OD, Bénichou B, de Vernejoul MC. Osteopetrosis as a model for

studying bone resorption. Rev Rhum Engl Ed. 1998 Dec;65(12):778-87. Review.
52: Bakeman RJ, Abdelsayed RA, Sutley SH, Newhouse RF. Osteopetrosis: a review of
the literature and report of a case complicated by osteomyelitis of the mandible.
J Oral Maxillofac Surg. 1998 Oct;56(10):1209-13. Review. PubMed PMID: 9766551.
53: Carolino J, Perez JA, Popa A. Osteopetrosis. Am Fam Physician. 1998 Mar
15;57(6):1293-6. Review. PubMed PMID: 9531912.
54: Horiuchi A. [Marble bone disease]. Ryoikibetsu Shokogun Shirizu. 1998;(21 Pt

2):149-51. Review. Japanese. PubMed PMID: 9833457.
55: Parkman R, Crooks G, Kohn DB, Lenarsky C, Weinberg K. Bone marrow

transplantation for metabolic diseases. Cancer Treat Res. 1995;76:87-96. Review.
56: Bollerslev J, Mosekilde L. Autosomal dominant osteopetrosis. Clin Orthop

Relat Res. 1993 Sep;(294):45-51. Review. PubMed PMID: 8358946.
57: Shapiro F. Osteopetrosis. Current clinical considerations. Clin Orthop Relat
Res. 1993 Sep;(294):34-44. Review. PubMed PMID: 8358940.
58: Manusov EG, Douville DR, Page LV, Trivedi DV. Osteopetrosis ('marble bone'
disease). Am Fam Physician. 1993 Jan;47(1):175-80. Review. PubMed PMID: 8418580.
59: Singer FR, Chang SS. Osteopetrosis. Semin Nephrol. 1992 Mar;12(2):191-9.
60: Balsan S, Garabédian M. Rickets, osteomalacia, and osteopetrosis. Curr Opin

Rheumatol. 1991 Jun;3(3):496-502. Review. PubMed PMID: 1883705.
61: Lenarsky C, Kohn DB, Weinberg KI, Parkman R. Bone marrow transplantation for
genetic diseases. Hematol Oncol Clin North Am. 1990 Jun;4(3):589-602. Review.
62: Fischer A. Bone marrow transplantation in immunodeficiency and osteopetrosis.

Bone Marrow Transplant. 1989 Dec;4 Suppl 4:12-4. Review. PubMed PMID: 2697421.
63: Bollerslev J. Autosomal dominant osteopetrosis: bone metabolism and

epidemiological, clinical, and hormonal aspects. Endocr Rev. 1989
Feb;10(1):45-67. Review. PubMed PMID: 2666111.
64: Schaison G, Bordigoni P, Leverger G. Bone marrow transplantation for genetic

and metabolic disorders. Nouv Rev Fr Hematol. 1989;31(2):119-23. Review. PubMed
PMID: 2505227.
Review osteopetrosis + tmo

("Osteopetrosis"[Mesh]) AND "Hematopoietic Stem Cells"[Mesh]
1: Del Fattore A, Capannolo M, Rucci N. Bone and bone marrow: the same organ.
Arch Biochem Biophys. 2010 Nov 1;503(1):28-34. doi: 10.1016/j.abb.2010.07.020.
Epub 2010 Jul 23. Review. PubMed PMID: 20655867.
2: Askmyr M, Flores C, Fasth A, Richter J. Prospects for gene therapy of
osteopetrosis. Curr Gene Ther. 2009 Jun;9(3):150-9. Review. PubMed PMID:
19519360. NO ENCUENTRA
3: Jethva R, Otsuru S, Dominici M, Horwitz EM. Cell therapy for disorders of

bone. Cytotherapy. 2009;11(1):3-17. doi: 10.1080/14653240902753477. Review.
4: Villa A, Vezzoni P, Frattini A. Osteopetroses and immunodeficiencies in

humans. Curr Opin Allergy Clin Immunol. 2006 Dec;6(6):421-7. Review. PubMed PMID:
17088646.
5: Shultz LD. Hematopoiesis and models of immunodeficiency. Semin Immunol. 1991

Nov;3(6):397-408. Review. PubMed PMID: 1799670. SIN DOI
6: Wiktor-Jedrzejczak W. Colony stimulating factor 1 (CSF-1) and its in vivo role

as delineated using osteopetrotic op/op mice. Postepy Biochem. 1991;37(2):54-7.
REPORTES DE CASOS.
((Hematopoietic Stem Cell Transplantation) OR Bone Marrow Transplantation) AND
Osteopetrosis
1: Barnea Slonim L, Glasser C. Infantile Osteopetrosis. J Pediatr Hematol Oncol.

2018 Apr;40(3):225-226. doi: 10.1097/MPH.0000000000001108. PubMed PMID:
29462001.
2: Zhang XY, He JW, Fu WZ, Wang C, Zhang ZL. Novel mutations of TCIRG1 cause a
malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four
Chinese families. Acta Pharmacol Sin. 2017 Nov;38(11):1456-1465. doi:
10.1038/aps.2017.108. Epub 2017 Aug 17. PubMed PMID: 28816234; PubMed Central
PMCID: PMC5672067.
3: Herebian D, Alhaddad B, Seibt A, Schwarzmayr T, Danhauser K, Klee D, Harmsen

S, Meitinger T, Strom TM, Schulz A, Mayatepek E, Haack TB, Distelmaier F.
Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative
disorder with NBIA-like brain abnormalities. Eur J Hum Genet. 2017
Sep;25(9):1092-1095. doi: 10.1038/ejhg.2017.96. Epub 2017 Jun 14. PubMed PMID:
4: Gillani S, Abbas Z. Malignant Infantile Osteopetrosis. J Ayub Med Coll

Abbottabad. 2017 Apr-Jun;29(2):350-352. PubMed PMID: 28718264.
5: Palagano E, Susani L, Menale C, Ramenghi U, Berger M, Uva P, Oppo M, Vezzoni

P, Villa A, Sobacchi C. Synonymous Mutations Add a Layer of Complexity in the
Diagnosis of Human Osteopetrosis. J Bone Miner Res. 2017 Jan;32(1):99-105. doi:
10.1002/jbmr.2929. Epub 2016 Sep 7. PubMed PMID: 27468155.
6: Pronk CJ, Turkiewicz D, Vult von Steyern K, Ehinger M, Dykes J, Toporski J.

Transplantation of Haploidentical TcRaß-Depleted Hematopoietic Cells Allows for
Optimal Timing and Sustained Correction of the Metabolic Defect in Children With
Infantile Osteopetrosis. J Bone Miner Res. 2017 Jan;32(1):82-85. doi:
7: Tfifha M, Gaha M, Gamaoun W, Chemli J, Mabrouk S, Hassayoun S, Zouari N, Jemni

H, Abroug S. Clinical and imaging features of malignant infantile osteopetrosis.
Turk J Pediatr. 2017;59(4):452-457. doi: 10.24953/turkjped.2017.04.012. PubMed
PMID: 29624226.
8: Detailleur V, Vansteenkiste G, Renard M, Verdonck A. Dental care approach in

patients with osteopetrosis. Eur Arch Paediatr Dent. 2016 Dec;17(6):435-443. Epub
2016 Nov 17. PubMed PMID: 27858309.
9: Ba ID, Ba A, Thiongane A, Ly/Ba A, Ba M, Fattah M, Faye PM, Cissé DF, Diouf

FN. [Malignant infantile osteopetrosis revealed by choanal atresia: A case
report]. Arch Pediatr. 2016 May;23(5):514-8. doi: 10.1016/j.arcped.2016.02.006.
Epub 2016 Mar 23. French. PubMed PMID: 27017359.
10: Ledemazel J, Plantaz D, Pagnier A, Girard P, Lasfargue M, Hullo E, Dietrich

K, Collet C, Moshous D. [Malignant infantile osteopetrosis: Case report of a
5-month-old boy]. Arch Pediatr. 2016 Apr;23(4):389-93. doi:
10.1016/j.arcped.2015.12.012. Epub 2016 Feb 2. French. PubMed PMID: 26850155.
11: Porta F, Cavagnini S, Imberti L, Sottini A, Bolda F, Beghin A, Caruso A,

Lanfranchi A. Partial depletion of TCR alpha/beta(+)/ CD19(+) cells in matched
unrelated transplantation of three patients with osteopetrosis. Bone Marrow
Transplant. 2015 Dec;50(12):1583-5. doi: 10.1038/bmt.2015.201. Epub 2015 Sep 14.
12: Wigfield J, Kakajiwala A, Forbes ML, Bodas P. Case 3: Abnormal Eye Movements
and Congestion in a 3-month-old Boy. Pediatr Rev. 2015 Dec;36(12):551-3. doi:
10.1542/pir.36-12-551. PubMed PMID: 26628737.
13: Ullah A, Pervez N, Khan SR, Ishfaq M, Liaqat S. Oral Manifestations of

Osteopetrosis. J Coll Physicians Surg Pak. 2015 Oct;25 Suppl 2:S127-9. doi:
10.2015/JCPSP.S127S129. PubMed PMID: 26522199.
14: Masarwa R, Shamriz O, Zilkha A, Braun J, Kleid DM, Weintraub M, Schulz A,

Stepensky P. Bosentan-induced Reduction in Cyclosporine-A Levels: A Rare
Interaction in an Infant With Osteopetrosis and Severe Pulmonary Hyperetension. J
Pediatr Hematol Oncol. 2015 Oct;37(7):573-4. doi: 10.1097/MPH.0000000000000409.
15: Crazzolara R, Maurer K, Schulze H, Zieger B, Zustin J, Schulz AS. A new

mutation in the KINDLIN-3 gene ablates integrin-dependent leukocyte, platelet,
and osteoclast function in a patient with leukocyte adhesion deficiency-III.
Pediatr Blood Cancer. 2015 Sep;62(9):1677-9. doi: 10.1002/pbc.25537. Epub 2015
Apr 8. PubMed PMID: 25854317.
16: Olgaç A, Tümer L, Boyunağa Ö, Kızılkaya M, Hasanoğlu A. Diagnostic dilemma:

osteopetrosis with superimposed rickets causing neonatal hypocalcemia. J Trop
Pediatr. 2015 Apr;61(2):146-50. doi: 10.1093/tropej/fmv001. Epub 2015 Feb 11.
17: Kuroyanagi Y, Kawasaki H, Noda Y, Ohmachi T, Sekiya S, Yoshimura K, Ohe C,

Michigami T, Ozono K, Kaneko K. A fatal case of infantile malignant osteopetrosis
complicated by pulmonary arterial hypertension after hematopoietic stem cell
transplantation. Tohoku J Exp Med. 2014 Dec;234(4):309-12. PubMed PMID: 25504019.
18: Kalyanasundaram K, Jegadeesan P, Mohan SC, Ponnurangam VN. An infant with
splenohepatomegaly: a rare cause. J Clin Imaging Sci. 2014 Aug 30;4:48. doi:
10.4103/2156-7514.139738. eCollection 2014. PubMed PMID: 25250197; PubMed Central
PMCID: PMC4168642.

20: Nour M, Ward LM. Infantile malignant osteopetrosis. J Pediatr. 2013

Oct;163(4):1230-1230.e1. doi: 10.1016/j.jpeds.2013.04.031. Epub 2013 May 27.
21: Ott CE, Fischer B, Schröter P, Richter R, Gupta N, Verma N, Kabra M, Mundlos
S, Rajab A, Neitzel H, Kornak U. Severe neuronopathic autosomal recessive
osteopetrosis due to homozygous deletions affecting OSTM1. Bone. 2013
Aug;55(2):292-7. doi: 10.1016/j.bone.2013.04.007. Epub 2013 Apr 17. PubMed PMID:
23685543.
22: Buchbinder D, Steward CG, Puthenveetil G, Nugent D, Hsieh L, Kirov I, Neudorf

S, Soni A. Successful cord blood transplantation in a patient with malignant
infantile osteopetrosis and hemophilia. Pediatr Transplant. 2013 Feb;17(1):E20-4.
doi: 10.1111/j.1399-3046.2012.01758.x. Epub 2012 Aug 23. PubMed PMID: 22913475.
23: Stroumsa R, Barat-Drillaud M, Chossegros C, Fisher A, Guyot L, Blanc JL. [Is

orthognathic surgery an alternative for mandibular osteopetrosis?]. Rev Stomatol
Chir Maxillofac Chir Orale. 2013 Feb;114(1):43-5. doi:
10.1016/j.revsto.2012.12.006. Epub 2013 Jan 30. French. PubMed PMID: 23711216.
24: Denosumab may reduce hypercalcaemia after transplantation for osteopetrosis.

BMJ. 2012 Nov 7;345:e7477. doi: 10.1136/bmj.e7477. PubMed PMID: 23135199.
25: Shroff R, Beringer O, Rao K, Hofbauer LC, Schulz A. Denosumab for

post-transplantation hypercalcemia in osteopetrosis. N Engl J Med. 2012 Nov
1;367(18):1766-7. doi: 10.1056/NEJMc1206193. PubMed PMID: 23113501.
26: Usta M, Gulec SG, Karaman S, Erdem E, Emral H, Urgancı N. A case report of
malignant infantile osteopetrosis. Iran J Pediatr. 2012 Sep;22(3):421-4. PubMed

28: Guran T, Karasu GT, Degirmenci S, Say A, Guran O, Paketci AT, Kornak U. A
rare cause of a relatively common neonatal emergency. Pediatr Hematol Oncol. 2012
May;29(4):365-7. doi: 10.3109/08880018.2011.630441. Epub 2012 Feb 3. PubMed PMID:
22303931.
29: Kantaputra PN, Thawanaphong S, Issarangporn W, Klangsinsirikul P, Ohazama A,

Sharpe P, Supanchart C. Long-term survival in infantile malignant autosomal
recessive osteopetrosis secondary to homozygous p.Arg526Gln mutation in CLCN7. Am
J Med Genet A. 2012 Apr;158A(4):909-16. doi: 10.1002/ajmg.a.35264. Epub 2012 Mar
14. PubMed PMID: 22419446.
30: Gheorghe G, Galambos C, Jain S, Krishnamurti L, Jaffe R. A novel TCIRG1 gene

mutation leads to severe osteopetrosis with altered content of
monocytes/macrophages in several organs. Pediatr Dev Pathol. 2012
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Revisión sistemática de Transplante de Medula de Ósea en niños con Osteopetrosis,

Reporte de 3 casos chilenos.

Población: niños (menor de 18 años) con diagnóstico de osteopetrosis.

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Review osteopetrosis + tmo

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