Case report with search of literature juvenile Paget’s disease (JPD) of bone
Location
Auditorium Pond Side
Start Date
26-2-2014 10:30 AM
Abstract
Introduction: JPD is a rare condition with an autosomal recessive mode of inheritance typically presenting in infancy or early childhood. There have been 50 reported cases worldwide .It is characterized by increased osteoclastic activity along with osteoblastic activity related to gene alteration and osteoprotegrin deficiency. Morbidity of disease is very severe.
Discussion: A 25 year old male, presented in OPD with complain of pain at the middle of the front of both legs about 10 years. Later on associated with ill-defined swelling gradually increased in size
On systemic examination nothing was significant except slight frontal bowing of both legs and very small ill-defined swelling at front of mid-legs (tibia) both side looks arising from bone. X-Rays showed characteristic mosaic pattern of Paget’s disease, significantly increase in Alkaline Phosphatase 905 u/L (3.7-74); raised ESR70mm. The biopsy revealed microscopic features of Juvenile PGD. He was prescribed Bisphosphonates once a month with regular follow up in outpatient department. The initial Lytic Phase characterized by increased bone resorbing function of the osteoclast, owing to increase in its number, size and resorbing activity. There is extremely rapid turnover of bone result in ostepenia, progressive skull deformity and other vascular problem,It is followed by Sclerotic phase characterized by compensatory increased osteoblastic activity. The bone turnover rate increased by twenty times so patients present repeated fractures and deformities, Markedly elevated sustained Alkaline phosphatase, The discovery of receptor activator of nuclear factor –kappa B ligand (RANKL) elucidates the mechanism of osteoclast differentiation and function regulated by osteoblasts. In JPD, the gene for OPG (TNFRSF11B) is subject to an inactivating mutation, leading to an increased resorption and accelerated remodeling. In JPD genetic mutation has been identified and recombinant treatment looks promising in future.
Keywords: Juvenile Paget’s disease, JPMC, Orthopedic, Karachi
Case report with search of literature juvenile Paget’s disease (JPD) of bone
Auditorium Pond Side
Introduction: JPD is a rare condition with an autosomal recessive mode of inheritance typically presenting in infancy or early childhood. There have been 50 reported cases worldwide .It is characterized by increased osteoclastic activity along with osteoblastic activity related to gene alteration and osteoprotegrin deficiency. Morbidity of disease is very severe.
Discussion: A 25 year old male, presented in OPD with complain of pain at the middle of the front of both legs about 10 years. Later on associated with ill-defined swelling gradually increased in size
On systemic examination nothing was significant except slight frontal bowing of both legs and very small ill-defined swelling at front of mid-legs (tibia) both side looks arising from bone. X-Rays showed characteristic mosaic pattern of Paget’s disease, significantly increase in Alkaline Phosphatase 905 u/L (3.7-74); raised ESR70mm. The biopsy revealed microscopic features of Juvenile PGD. He was prescribed Bisphosphonates once a month with regular follow up in outpatient department. The initial Lytic Phase characterized by increased bone resorbing function of the osteoclast, owing to increase in its number, size and resorbing activity. There is extremely rapid turnover of bone result in ostepenia, progressive skull deformity and other vascular problem,It is followed by Sclerotic phase characterized by compensatory increased osteoblastic activity. The bone turnover rate increased by twenty times so patients present repeated fractures and deformities, Markedly elevated sustained Alkaline phosphatase, The discovery of receptor activator of nuclear factor –kappa B ligand (RANKL) elucidates the mechanism of osteoclast differentiation and function regulated by osteoblasts. In JPD, the gene for OPG (TNFRSF11B) is subject to an inactivating mutation, leading to an increased resorption and accelerated remodeling. In JPD genetic mutation has been identified and recombinant treatment looks promising in future.
Keywords: Juvenile Paget’s disease, JPMC, Orthopedic, Karachi