Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a TCIRG1 gene mutation.

Details

Serval ID
serval:BIB_29674
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a TCIRG1 gene mutation.
Journal
Pediatric Pathology & Molecular Medicine
Author(s)
Bruder Elisabeth, Stallmach Thomas, Peier Karin, Superti-Furga Andrea, Vezzoni Paolo
ISSN
1522-7952
Publication state
Published
Issued date
2003
Peer-reviewed
Oui
Volume
22
Number
1
Pages
3-9
Language
english
Notes
Publication types: Case Reports ; Journal Article
Abstract
Bone biopsies were performed before and 7 weeks after transplantation of HLA-compatible bone marrow from the sister of a 3-month-old male infant with malignant autosomal recessive osteopetrosis due to a mutation in the TCIRG1 (ATP6i) gene. The first biopsy showed broad, immature bony trabeculae and no medullary hematopoiesis. Only few osteoclasts were present and electron microscopy showed absence of ruffled borders. The post transplant biopsy revealed donor osteoclasts with ruffled borders and intracytoplasmic mineral crystals as proof of active bone resorption that had not yet been detectable radiographically. Osteopetrosis is a genetically heterogeneous disease. Definition at the DNA-level will enable comparison of treatment strategies and prenatal diagnosis. As shown in this patient, the autosomal recessive form caused by a TCIRG1 gene mutation may be amenable to bone marrow transplantation. Activity of donor osteoclasts can be demonstrated morphologically on biopsy, before bone remodeling becomes evident radiologically.
Keywords
Bone Marrow/pathology, Bone Marrow/ultrasonography, Bone Marrow Transplantation, Humans, In Situ Hybridization, Infant, Infant, Newborn, Male, Microscopy, Electron, Mutation, Osteoclasts/pathology, Osteoclasts/ultrastructure, Osteopetrosis/genetics, Osteopetrosis/pathology, Protein Subunits/genetics, Vacuolar Proton-Translocating ATPases/genetics
Pubmed
Web of science
Create date
19/11/2007 12:27
Last modification date
20/08/2019 13:09
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