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Revista Médica Sinergia

2022, Number 07

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Revista Médica Sinergia 2022; 7 (07)

Malignant infantile osteopetrosis: a genetic disease

Gutiérrez BLJ, Valverde CK, Víquez QM

Language: Spanish
References: 15
Page:
PDF size: 141.22 Kb.


ABSTRACT

Malignant infantile osteopetrosis also called Albers-Schönberg disease or Marble bones it includes a syndrome that causes hard and brittle bones, it also affects wide and short bones, prone to fractures that are difficult to treat. They are classified into two large groups: Autosomal dominant and the recessive. It is very uncommon disease; it has a poor prognosis in the early stages of life. It is an autosomal recessive hereditary bone pathology characterized by increased bone density caused by an abnormality in osteoclast function. Children can be diagnosed immediately at birth due to their low stature, the presence of pathological fractures, osteomyelitis in long bones and recurrent infections. In most cases, there is multisystemic involvemen. The diagnosis of MIO is mainly given by the clinical manifestations, laboratory tests and radiological images. The confirmatory test is by molecular genetic analysis. The most severe complication of osteopetrosis is bone marrow suppression. The most effective therapeutic option for this pathology is hematopoietic stem cell transplantation.


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