Serum creatine kinase isoenzymes in children with osteogenesis imperfecta

D’Eufemia, P; Finocchiaro, R; Zambrano, Anna; Lodato, Valentina; Celli, Luca; Finocchiaro, S.; Persiani, P.J.; Turchetti, A; Celli, Mauro

doi:10.1007/s00198-016-3729-x

Cited by 7 publications

(3 citation statements)

References 27 publications

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“…Whether bisphosphonates influence the basic defect in OPPG is not clear at present but an important component of their efficacy may be their action to reduce bone pain and bone loss due to immobility. The neridronate effects on spinal bone density observed in our patients were similar to those described for other bisphosphonates, administered either orally or intravenously, in different forms of childhood osteoporosis [12,13].…”

Section: Discussionsupporting

confidence: 86%

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Clinical and biochemical response to neridronate treatment in a patient with osteoporosis-pseudoglioma syndrome (OPPG)

et al. 2017

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Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive syndrome characterized by juvenile-onset osteoporosis and ocular abnormalities due to a low-density lipoprotein receptor-related protein 5 (LRP5) gene mutation. Treatment with bisphosphonates, particularly with pamidronate and risedronate, has been reported to be of some efficacy in this condition. We report on a patient with OPPG due to an LRP5 gene mutation, who showed an encouraging response after a 36-month period of neridronate therapy. We report a case of a patient treated with bisphosphonates. Bisphosphonates should be administered in OPPG patients as a first-line therapy during early childhood.

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Section: Discussionsupporting

confidence: 86%

“…Neridronate is an amino-bisphosphonate that is structurally similar to alendronate and pamidronate. It only differs in the number of side-chain methyl groups and has been investigated in Paget bone disease [11] and osteogenesis imperfecta [12,13].…”

Section: Introductionmentioning

confidence: 99%

Clinical and biochemical response to neridronate treatment in a patient with osteoporosis-pseudoglioma syndrome (OPPG)

et al. 2017

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“…The histomorphometric picture of the bone is usually characterized by the presence of an excessive number of osteoblasts with impaired activity and the consequent deficient deposition of bone matrix [ 5 ]. The trabecular skeletal turnover is generally increased and these histomorphometric features have been confirmed through the detection of an increase in bone turnover markers, such as serum osteocalcin, bone alkaline phosphatase, collagen peptide crosslinks (C- or N-telopeptide) and urinary calcium excretion [ 6 , 7 , 8 ].…”

Section: Introductionmentioning

confidence: 99%

Vitamin D and Osteogenesis Imperfecta in Pediatrics

et al. 2023

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Osteogenesis Imperfecta (OI) is a heterogeneous group of inherited skeletal dysplasias characterized by bone fragility. The study of bone metabolism, in these disease, is problematic in terms of clinical and genetic variability. The aims of our study were to evaluate the importance of Vitamin D levels in OI bone metabolism, reviewing studies performed on this topic and providing advice reflecting our experience using vitamin D supplementation. A comprehensive review on all English-language articles was conducted in order to analyze the influence of vitamin D in OI bone metabolism in pediatric patients. Reviewing the studies, contradictory data were found on the relationship between 25OH vitamin D levels and bone parameters in OI, and in several studies the baseline levels of 25OH D were below the threshold value of 75 nmol/L. In conclusion, according to the literature and to our experience, we highlight the importance of adequate vitamin D supplementation in children with OI.

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