Literature DB >> 21686893

The A, B, C, D of hypercalcaemia in Down syndrome.

Huy A Tran1, Shuzhen Song, Patricia A Crock, John Mattes, Keith Howard.   

Abstract

Hypercalcaemia in infants with Down syndrome is an uncommon condition with only five previous case reports. The patients often present in the toddler years with the classical triad of Down syndrome, biochemical hypercalcaemia, and nephrocalcinosis. We present the sixth case and second male with this condition and further review the clinical details of this under-recognised condition and stratify the diagnostic criteria. The management mandates a reduction in calcium intake as a first step. The natural history of the various aspects of this condition is also considered.

Entities:  

Year:  2009        PMID: 21686893      PMCID: PMC3030300          DOI: 10.1136/bcr.06.2008.0232

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


  13 in total

1.  Trisomy 21 with hypercalcemia, hypercalciuria, medullary calcinosis and renal failure--a syndrome?

Authors:  G Filler; S Kotecha; J Milanska; M L Lawson
Journal:  Pediatr Nephrol       Date:  2001-01       Impact factor: 3.714

2.  Regulation of vertebrate cellular Mg2+ homeostasis by TRPM7.

Authors:  Carsten Schmitz; Anne-Laure Perraud; Catherine O Johnson; Kazunori Inabe; Megan K Smith; Reinhold Penner; Tomohiro Kurosaki; Andrea Fleig; Andrew M Scharenberg
Journal:  Cell       Date:  2003-07-25       Impact factor: 41.582

3.  Another toddler with Down syndrome, nephrocalcinosis, hypercalcemia, and hypercalciuria.

Authors:  C Cobeñas; F Spizzirri; D Zanetta
Journal:  Pediatr Nephrol       Date:  1998-06       Impact factor: 3.714

4.  Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family.

Authors:  Karl P Schlingmann; Stefanie Weber; Melanie Peters; Lene Niemann Nejsum; Helga Vitzthum; Karin Klingel; Markus Kratz; Elie Haddad; Ellinor Ristoff; Dganit Dinour; Maria Syrrou; Søren Nielsen; Martin Sassen; Siegfried Waldegger; Hannsjörg W Seyberth; Martin Konrad
Journal:  Nat Genet       Date:  2002-05-28       Impact factor: 38.330

5.  Vitamin D and adult bone health in Australia and New Zealand: a position statement.

Authors: 
Journal:  Med J Aust       Date:  2005-03-21       Impact factor: 7.738

6.  A toddler with Down syndrome, hypercalcaemia, hypercalciuria, medullary nephrocalcinosis and renal failure.

Authors:  W Proesmans; P De Cock; B Eyskens
Journal:  Pediatr Nephrol       Date:  1995-02       Impact factor: 3.714

7.  Derivation and validation of cystatin C-based prediction equations for GFR in children.

Authors:  Michael Zappitelli; Paloma Parvex; Lawrence Joseph; Gilles Paradis; Vijaylaxmi Grey; Susie Lau; Lorraine Bell
Journal:  Am J Kidney Dis       Date:  2006-08       Impact factor: 8.860

Review 8.  Transient receptor potential cation channels in disease.

Authors:  Bernd Nilius; Grzegorz Owsianik; Thomas Voets; John A Peters
Journal:  Physiol Rev       Date:  2007-01       Impact factor: 37.312

9.  Hypercalcaemia in association with trisomy 21 (Down's syndrome).

Authors:  I J Ramage; A Durkan; K Walker; T J Beattie
Journal:  J Clin Pathol       Date:  2002-07       Impact factor: 3.411

10.  Hypercalcemia in infants with congenital hypothyroidism and its relation to vitamin D and thyroid hormones.

Authors:  C Tau; M Garabedian; J P Farriaux; P Czernichow; R Pomarede; S Balsan
Journal:  J Pediatr       Date:  1986-11       Impact factor: 4.406

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  1 in total

Review 1.  Hypercalcemia: a consultant's approach.

Authors:  Ari Auron; Uri S Alon
Journal:  Pediatr Nephrol       Date:  2017-09-06       Impact factor: 3.714

  1 in total

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