A single-center experience in 20 patients with infantile malignant osteopetrosis

Evelina Mazzolari, Concetta Forino, Alessia Razza, Fulvio Porta, Anna Villa, Luigi Daniele Notarangelo

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Abstract

Infantile malignant osteopetrosis (IMO) includes various genetic disorders that affect osteoclast development and/or function. Genotype-phenotype correlation studies in IMO have been hampered by the rarity and heterogeneity of the disease and by the severity of the clinical course, which often leads to death early in life. We report on the clinical and molecular findings and treatment in 20 consecutive patients (11 males, nine females) with IMO, diagnosed at a single center in the period 1991-2008. Mean age at diagnosis was 3.9 months, and mean follow-up was 66.75 months. Mutations in TCIRG1, OSTM1, ClCN7, and TNFRSF11A genes were detected in nine, three, one, and one patients, respectively. Six patients remain genetically undefined. OSTM1 and ClCN7 mutations were associated with poor neurologic outcome. Among nine patients with TCIRG1 defects, six presented with hypogammaglobulinemia, and one showed primary pulmonary hypertension. Fourteen patients received hematopoietic cell transplantation; of these, nine are alive and eight of them have evidence of osteoclast function. These data may provide a basis for informed decisions regarding the care of patients with IMO.

Original languageEnglish
Pages (from-to)473-479
Number of pages7
JournalAmerican Journal of Hematology
Volume84
Issue number8
DOIs
Publication statusPublished - Aug 2009

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Osteopetrosis
Osteoclasts
Agammaglobulinemia
Mutation
Inborn Genetic Diseases
Cell Transplantation
Genetic Association Studies
Nervous System
Patient Care
Genes

ASJC Scopus subject areas

  • Hematology

Cite this

A single-center experience in 20 patients with infantile malignant osteopetrosis. / Mazzolari, Evelina; Forino, Concetta; Razza, Alessia; Porta, Fulvio; Villa, Anna; Notarangelo, Luigi Daniele.

In: American Journal of Hematology, Vol. 84, No. 8, 08.2009, p. 473-479.

Research output: Contribution to journalArticle

Mazzolari, E, Forino, C, Razza, A, Porta, F, Villa, A & Notarangelo, LD 2009, 'A single-center experience in 20 patients with infantile malignant osteopetrosis', American Journal of Hematology, vol. 84, no. 8, pp. 473-479. https://doi.org/10.1002/ajh.21447
Mazzolari, Evelina ; Forino, Concetta ; Razza, Alessia ; Porta, Fulvio ; Villa, Anna ; Notarangelo, Luigi Daniele. / A single-center experience in 20 patients with infantile malignant osteopetrosis. In: American Journal of Hematology. 2009 ; Vol. 84, No. 8. pp. 473-479.
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