Clinical vignette: Severe malignant osteopetrosis caused by a GL gene mutation
Journal of Bone and Mineral Research, ISSN: 0884-0431, Vol: 19, Issue: 7, Page: 1194-1199
2004
- 52Citations
- 24Captures
- 1Mentions
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Example: if you select the 1-year option for an article published in 2019 and a metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019. If you select the 3-year option for the same article published in 2019 and the metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019, 2018 and 2017.
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Metrics Details
- Citations52
- Citation Indexes52
- 52
- CrossRef43
- Captures24
- Readers24
- 12
- 12
- Mentions1
- References1
- 1
Article Description
Infantile malignant autosomal recessive osteopetrosis is a genetically heterogeneous disease caused by the inability of OCLs to resorb and remodel bone, resulting in generalized osteosclerosis and obliteration of marrow spaces and cranial foramina. The classical clinical features are pathological fractures, visual impairment, and bone marrow failure. Two human genes have been described as the cause of this form of osteopetrosis: the T-cell immune-regulator-1 (TCIRG1) gene, which is mutated in >50% of the patients, and the chloride channel 7 (ClCN7) gene, which accounts for ∼10% of cases. We report the clinical, radiographic, and histopathologic findings of the first human osteopetrosis case caused by a mutation in the grey-lethal (GL) gene. The patient, a 9-day-old male infant, presented with a very severe osteopetrotic phenotype including substantial hepatosplenomegaly since birth, cytopenia, and progressive major liver failure. Skeletal radiographs revealed a generalized increase in bone density with loss of corticomedullary differentiation. Histopathologic bone examination showed the typical osteopetrotic changes, with absence of resorptive activity, and osteoclasts, slightly decreased in number, with evident morphological alterations. © 2004 American Society for Bone and Mineral Research.
Bibliographic Details
http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=16544384350&origin=inward; http://dx.doi.org/10.1359/jbmr.040407; http://www.ncbi.nlm.nih.gov/pubmed/15177004; https://academic.oup.com/jbmr/article/19/7/1194-1199/7592783; http://doi.wiley.com/10.1359/JBMR.040407; https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1359%2FJBMR.040407; http://onlinelibrary.wiley.com/doi/10.1359/JBMR.040407/abstract
Oxford University Press (OUP)
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