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Osteopetrosis: a single centre experience of stem cell tranisplantation and prenatal diagnosis
J Kapelushnik1, C Shalev, I Yaniv
1Hemato-Oncology Unit, Soroka University Medical Centre, Beer-Sheva, Israel.
Insights
Malignant osteopetrosis (MOP) is a severe genetic disorder. Bone marrow transplantation (BMT) offers a chance of survival for affected infants, with prenatal diagnosis now available.
Area of Science:
- Genetics
- Pediatrics
- Hematology
Background:
- Malignant osteopetrosis (MOP) is a rare, autosomal recessive skeletal disorder.
- Characterized by osteoclast dysfunction, leading to excessive bone deposition and high infant mortality.
- Affects children from related families within a specific Bedouin tribe.
Purpose of the Study:
- To investigate the clinical course and treatment outcomes of MOP in affected children.
- To highlight the significance of bone marrow transplantation (BMT) and prenatal diagnosis in managing MOP.
- To report on the genetic mapping of MOP in the studied Bedouin population.
Main Methods:
- Clinical observation and diagnosis of MOP in thirteen affected children from four related families.
- Evaluation of outcomes for nine children who underwent bone marrow transplantation (BMT).
- Analysis of prenatal diagnostic cases and subsequent management decisions.
Main Results:
- Four out of nine children who underwent BMT survived; one developed blindness, and two had reduced vision.
- Four children who did not receive BMT died between 4 and 6 months of age.
- Prenatal diagnosis identified two affected fetuses in seven pregnancies, with one elective termination and one post-natal transplant.
Conclusions:
- Bone marrow transplantation (BMT) can improve survival rates in malignant osteopetrosis (MOP).
- Prenatal diagnosis offers crucial reproductive options for families at risk of MOP.
- Genetic mapping has enabled early detection and intervention for MOP in this population.
Abstract:
Malignant osteopetrosis (MOP) is an autosomal recessive disease in which osteoclast dysfunction results in excessive bone deposition and early infant death. Thirteen children suffering from MOP from four related families all belonging to one Bedouin tribe, were studied. The disease was diagnosed as early as at a few days postnatal to 5 months. Nine children underwent BMT, four of whom are still alive; one is blind and two have markedly reduced vision. Four children who did not undergo BMT died between 4 and 6 months of age. Recently, the gene for MOP has been mapped for this Bedouin tribe allowing prenatal diagnosis. Seven pregnancies were subsequently prenatally diagnosed and two fetuses were found to be affected. Pregnancy was electively terminated in one case. In the other case the parents refused and after establishing the diagnosis, the newborn was transplanted at the age of 7 days.