Literature DB >> 24849637

Two siblings with Paget's disease of bone.

Dukhabandhu Naik1, Hesargatta Shyamsunder Asha2, Suma Susan Mathews3, Thomas Vizhalil Paul2.   

Abstract

Paget's disease of bone (PDB) is a chronic disorder characterised by focal areas of excessive osteoclastic bone resorption with a secondary increase in osteoblastic bone formation. First-degree relatives of patients with PDB are at seven times higher risk of developing this disorder, with a tendency towards earlier age at onset. We report two siblings who presented with features of polyostotic Paget's disease. They presented with features of non-inflammatory back pain. Biochemical evaluation was unremarkable except for elevated serum alkaline phosphatase. Subsequently, radiology and bone scans were diagnostic of polyostotic PDB. They were treated with bisphosphonates with which they improved. 2014 BMJ Publishing Group Ltd.

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Mesh:

Year:  2014        PMID: 24849637      PMCID: PMC4039939          DOI: 10.1136/bcr-2013-203219

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  4 in total

Review 1.  Paget's disease of bone: clinical review and update.

Authors:  Mark J Bolland; Tim Cundy
Journal:  J Clin Pathol       Date:  2013-09-16       Impact factor: 3.411

2.  Genomewide search in familial Paget disease of bone shows evidence of genetic heterogeneity with candidate loci on chromosomes 2q36, 10p13, and 5q35.

Authors:  L J Hocking; C A Herbert; R K Nicholls; F Williams; S T Bennett; T Cundy; G C Nicholson; W Wuyts; W Van Hul; S H Ralston
Journal:  Am J Hum Genet       Date:  2001-09-05       Impact factor: 11.025

3.  Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone.

Authors:  Nancy Laurin; Jacques P Brown; Jean Morissette; Vincent Raymond
Journal:  Am J Hum Genet       Date:  2002-04-30       Impact factor: 11.025

Review 4.  Paget's disease of bone.

Authors:  John P Walsh
Journal:  Med J Aust       Date:  2004-09-06       Impact factor: 7.738

  4 in total
  2 in total

1.  Is Paget Disease of Bone more Common in South India? Clinical Characteristics, Therapeutic Outcome and follow-up of 66 Patients from Tamil Nadu.

Authors:  Adlyne R Asirvatham; Subramanian Kannan; Shriraam Mahadevan; Karthik Balachandran; Geethalakshmi Sampathkumar; Dhalapathy Sadacharan; Satish K Balasubramanian
Journal:  Indian J Endocrinol Metab       Date:  2020-08-27

2.  Paget's Disease of Bone: An Entity Still Exists in India.

Authors:  Kripa Elizabeth Cherian; Nitin Kapoor; Sahana Shetty; Felix K Jebasingh; Hesarghatta Shyamasunder Asha; Julie Hephzibah; Anne Jennifer Prabhu; Simon Rajaratnam; Nihal Thomas; Thomas Vizhalil Paul
Journal:  Indian J Endocrinol Metab       Date:  2018 May-Jun
  2 in total

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