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Year : 2020  |  Volume : 21  |  Issue : 1  |  Page : 20-26

Stone bone – Is osteopetrosis as hard as it can be???

1 Lecturer, College of Nursing, CMC, Vellore, Tamil Nadu, India
2 Professor, College of Nursing, CMC, Vellore, Tamil Nadu, India
3 Staff Nurse, CMC, Vellore, Tamil Nadu, India

Correspondence Address:
Mrs. B Abijah Princy
College of Nursing, CMC, Vellore, Tamil Nadu
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/IJCN.IJCN_43_20

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Bone is a vibrant tissue comprising of osteoblasts and osteoclasts. Osteoblasts synthesise bone matrix, whereas osteoclasts help in bone resorption. Osteopetrosis is a heritable disorder that leads to failure of osteoclasts to resorb bone. This leads to impairment in bone modelling and remodelling as changes occur in the shape and structure of the bone. Nearly 70% of osteopetrosis is caused by genetic mutations of TCIRG1, CLCN7, OSTM1, RANKL, RANK and PLEKHM1 genes. Clinical manifestations range from increased bone density, skeletal fragility, disturbed tooth eruptions to haematopoietic insufficiency, nervous degeneration, mental retardation and developmental delay. Diagnosis is mainly by clinical presentation and radiological findings. Treatment is primarily supportive to stimulate host osteoclasts by administering calcium and Vitamin D supplementation, high-dose calcitriol, joint arthroplasty, interferon gamma 1b and gene therapy. Haematopoietic stem cell transplantation is indicated for severe forms of autosomal recessive osteopetrosis. Infantile and intermediate forms of autosomal recessive osteopetrosis can be fatal if left untreated. This article includes a case report of osteopetrosis with focused nursing care using nursing process approach.

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