Effects of denosumab on bone biochemistry and calcium metabolism in a girl with Juvenile Paget's disease

2013 ◽  
Author(s):  
Grasemann Corinna ◽  
Schundeln Michael ◽  
Wieland Regina ◽  
Bergmann Christoph ◽  
Wieczorek Dagmar ◽  
...  
Keyword(s):  
Calcium Metabolism ◽  
Paget’S Disease ◽  
Paget's Disease ◽  
Juvenile Paget’S Disease ◽  
Bone Biochemistry

scholarly journals Polymorphisms of CSF1 and TM7SF4 genes in a case of mild juvenile Paget’s disease found using next-generation sequencing

2015 ◽  
Vol 56 (2) ◽  
pp. 145-151 ◽  
Author(s):  
Judit Donáth ◽  
Gábor Speer ◽  
János P. Kósa ◽  
Kristóf Árvai ◽  
Bernadett Balla ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Paget’S Disease ◽  
Paget's Disease ◽  
Next Generation ◽  
Juvenile Paget’S Disease ◽  
Generation Sequencing

Post-partum hypercalcemia in hereditary hyperphosphatasia (juvenile Paget’s disease)

1991 ◽  
Vol 14 (7) ◽  
pp. 591-597 ◽  
Author(s):  
N. Chosich ◽  
F. Long ◽  
R. Wong ◽  
D. J. Topliss ◽  
J. R. Stockigt
Keyword(s):  
Post Partum ◽  
Paget’S Disease ◽  
Paget's Disease ◽  
Juvenile Paget’S Disease

Profound hypocalcemia following effective response to zoledronic acid treatment in a patient with juvenile Paget’s disease

2010 ◽  
Vol 28 (6) ◽  
pp. 706-712 ◽  
Author(s):  
Stergios A. Polyzos ◽  
Athanasios D. Anastasilakis ◽  
Ioannis Litsas ◽  
Zoe Efstathiadou ◽  
Marina Kita ◽  
...  
Keyword(s):  
Zoledronic Acid ◽  
Acid Treatment ◽  
Paget’S Disease ◽  
Paget's Disease ◽  
Effective Response ◽  
Juvenile Paget’S Disease

Osteoprotegerin Deficiency and Juvenile Paget's Disease

2002 ◽  
Vol 347 (3) ◽  
pp. 175-184 ◽  
Author(s):  
Michael P. Whyte ◽  
Sara E. Obrecht ◽  
Patrick M. Finnegan ◽  
Jonathan L. Jones ◽  
Michelle N. Podgornik ◽  
...  
Keyword(s):  
Paget’S Disease ◽  
Paget's Disease ◽  
Juvenile Paget’S Disease

scholarly journals Juvenile Paget’s disease: Report of a family with a novel missense mutation and unique radiological manifestations in a heterozygote

QJM ◽  
2020 ◽  
Vol 113 (Supplement_1) ◽  
Author(s):  
O Khalifa ◽  
K Ramzan ◽  
A S Moustafa ◽  
K AlMane ◽  
M Abdelfattah ◽  
...  
Keyword(s):  
Alkaline Phosphatase ◽  
Bone Turnover ◽  
Skeletal Dysplasia ◽  
Serum Alkaline Phosphatase ◽  
Phenotypic Variability ◽  
Paget’S Disease ◽  
Paget's Disease ◽  
Homozygous Mutation ◽  
Markers Of Bone Turnover ◽  
Juvenile Paget’S Disease

Abstract Juvenile Paget’s disease (JPD) is a rare, generalized skeletal disorder characterized by markedly increased bone turnover secondary to enhanced osteoclastic activity. The patients with JPD develop progressive, widespread skeletal involvement and non-skeletal manifestations. Objectives To identify the characteristic molecular, biochemical, radiological, and audiological findings in three siblings with JPD associated with intrafamilial phenotypic variability. Patients and Methods A Saudi family with 3 affected siblings was recruited. Biochemical measurement of serum alkaline phosphatase and markers of bone turnover were performed. Genetic testing and sequencing of a panel of 22 known genes for skeletal dysplasia with increase bone density were performed by next generation sequencing (NGS). Radiological and audiological assessment were also performed. Results Patients showed marked elevation of serum alkaline phosphatase and markers of bone turnover. A novel homozygous mutation c.433T>G (p.Cys145Gly) in exon 3 of TNFRSF11B gene was identified in the 3 affected siblings. Both parents were heterozygous for the mutation. The heterozygote father had thickening of calvarium, a radiological manifestation of JPD. The eldest child (index case) had a unique striking distortion of the skull bones as evidenced by 3-D computed tomography of skull. He had also bilateral inner ear structural deformity and severe sensorineural hearing loss. Conclusions: JPD is a rare disorder that can be highly overlooked due to phenotypic overlap with other disorders of skeletal dysplasia. Mutations affecting cysteine residues result in the most severe JPD phenotypes. NGS is useful for early diagnosis of JPD, a prerequisite for successful treatment strategy.

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