Skip Navigation


NDT Plus Advance Access originally published online on February 4, 2009
NDT Plus 2009 2(3):222-224; doi:10.1093/ndtplus/sfp009
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow All Versions of this Article:
2/3/222    most recent
sfp009v1
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Burtey, S.
Right arrow Articles by Dussol, B.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© The Author [2009]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please e-mail: journals.permissions@oxfordjournals.org

Hypokalaemia and dysmorphia, is there a link?

Stéphane Burtey1, Damien Sternberg2, Karine Nguyen3, Nicole Philip3, Yvon Berland1 and Bertrand Dussol1

1 Centre de Néphrologie et Transplantation Rénale, AP-HM, Université de la Méditerranée, Marseille
2 Biochemistry and Genetics, Hôpital Pitié-Salpêtrière, Assistance Publique Hôpitaux de Paris, Université Pierre et Marie Curie and INSERM, Paris
3 Service de Génétique médicale, Hopital de la Timone, AP-HM, Université de la Méditerranée, Marseille, France

Correspondence: Correspondence and offprint requests to: Stéphane Burtey, Centre de néphrologie et transplantation rénale, Hopital de la Conception, 135 bd Baille, 13005 Marseille, France. Tel: +33-491383042; Fax: +33-491383206; E-mail: stephaneb{at}ap-hm.fr


  Abstract

A 15-year-old boy with quadriplegia and facial dysmorphia was referred to the emergency room. This was his first episode of tetraplegia. One maternal uncle had exhibited the same manifestation 20 years before. Blood test revealed severe hypokalaemia and mild hypocalcaemia. The clinical diagnosis revealed an Andersen–Tawil syndrome. Molecular tools allowed us to make the diagnosis of familial hypokalaemic periodic paralysis type 1 associated with a de novo 22q11.2 microdeletion syndrome. Our case report emphasizes the importance of molecular diagnosis in genetic diseases.

Key Words: 22q11 microdeletion syndrome • familial hypokalaemic periodic paralysis type 1 • hypocalcaemia • hypokalaemia

Received for publication January 9, 2009. Accepted for publication January 9, 2009.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?




Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.