Literature DB >> 1551278

Hereditary chondrocalcinosis in a Tunisian family.

M Hamza1, N Meddeb, T Bardin.   

Abstract

A clinical and radiological survey of 77 members of a Tunisian family with hereditary chondrocalcinosis was performed. Articular chondrocalcinosis was documented by X-rays in 7 living members of 3 generations. No associated or secondary forms of the disease were found. Clinical features of the disease appeared early in life and radiologic involvement was extensive. The mode of inheritance appeared to be autosomal dominant with incomplete penetrance. Electron microscopy study of synovium and cartilage biopsies from one patient demonstrated calcium pyrophosphate dihydrate crystals. HLA typing revealed that all affected subjects bore the haplotype A1 B12 DR3.

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Year:  1992        PMID: 1551278

Source DB:  PubMed          Journal:  Clin Exp Rheumatol        ISSN: 0392-856X            Impact factor:   4.473


  6 in total

1.  Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease.

Authors:  L J Andrew; V Brancolini; L S de la Pena; M Devoto; F Caeiro; R Marchegiani; A Reginato; A Gaucher; P Netter; P Gillet; D Loeuille; D J Prockop; A Carr; B F Wordsworth; M Lathrop; S Butcher; E Considine; K Everts; A Nicod; S Walsh; C J Williams
Journal:  Am J Hum Genet       Date:  1999-01       Impact factor: 11.025

Review 2.  Pathophysiology of articular chondrocalcinosis--role of ANKH.

Authors:  Abhishek Abhishek; Michael Doherty
Journal:  Nat Rev Rheumatol       Date:  2010-11-23       Impact factor: 20.543

3.  Linkage of early-onset osteoarthritis and chondrocalcinosis to human chromosome 8q.

Authors:  C T Baldwin; L A Farrer; R Adair; R Dharmavaram; S Jimenez; L Anderson
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

Review 4.  Genetic factors in the pathogenesis of CPPD crystal deposition disease.

Authors:  Ana Rita Couto; Matthew A Brown
Journal:  Curr Rheumatol Rep       Date:  2007-06       Impact factor: 4.686

5.  Association of 4-basepair G-to-A transition in the 5'-untranslated region of ANKH gene with selected patients of primary knee osteoarthritis: A cross sectional study.

Authors:  Puneet Kumar; Aarti Sharma; Siddharth Das; Ragini Srivastava; Nikhil Gupta
Journal:  J Family Med Prim Care       Date:  2019-09-30

6.  The association between ANKH promoter polymorphism and chondrocalcinosis is independent of age and osteoarthritis: results of a case-control study.

Authors:  Abhishek Abhishek; Sally Doherty; Rose Maciewicz; Kenneth Muir; Weiya Zhang; Michael Doherty; Anna M Valdes
Journal:  Arthritis Res Ther       Date:  2014-01-27       Impact factor: 5.156

  6 in total

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