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Osteoclast-poor osteopetrosis
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DOI：10.1016/j.bone.2022.116541.png)
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Osteopetrosis (OPT) is a rare inherited bone disease characterized by a bone resorption defect, due to osteoclast malfunction (in osteoclast-rich, oc-rich, OPT forms) or absence (in oc-poor OPT forms). This causes severe clinical abnormalities, including increased bone density, lack of bone marrow cavity, stunted growth, macro-cephaly, progressive deafness, blindness, hepatosplenomegaly, and severe anemia. The oc-poor subtype of OPT is ultra-rare in humans. It is caused by mutations in either the tumor necrosis factor ligand superfamily member 11 (TNFSF11) gene, encoding RANKL (Receptor Activator of Nuclear factor-kappa B [NF-KB] Ligand) which is expressed on cells of mesenchymal origin and lymphocytes, or the TNFRSF member 11A (TNFRSF11A) gene, encoding the RANKL functional receptor RANK which is expressed on cells of myeloid lineage including oste-oclasts. Clinical presentation is usually severe with onset in early infancy or in fetal life, although as more pa-tients are reported, expressivity is variable. Phenotypic variability of RANK-deficient OPT sometimes includes hypogammaglobulinemia or radiological features of dysosteosclerosis. Disease progression is somewhat slower in RANKL-deficient OPT than in other 'malignant' subtypes of OPT. While both RANKL and RANK are essential for normal bone turnover, hematopoietic stem cell transplantation (HSCT) is the treatment of choice only for pa-tients with the RANK-deficient form of oc-poor OPT. So far, there is no cure for RANKL-deficient OPT.
Keyword:
RANKL
RANK
Osteoclasts
Hematopoietic stem cell transplantation
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3.6
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1.3W
被引数:
2.3W
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引用论文
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.png)
NATURE GENETICS
NATURE GENETICSIF31.8
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Adipocyte differentiation defect in mesenchymal stromal cells of patients with malignant infantile osteopetrosisCYTOTHERAPY
CYTOTHERAPYIF3.2
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