Vzácné formy diabetu mellitu v dětství:Wolfram-like syndrom
KONEČNÁ, Petra, Zuzana HRUBÁ, Jarmila SKOTÁKOVÁ, Lenka FAJKUSOVÁ, Zdeněk DOLEŽEL and Dagmar PROCHÁZKOVÁ. Vzácné formy diabetu mellitu v dětství:Wolfram-like syndrom. In IV.Kongres pediatrů v Brně, Pediatrie pro praxi, 2017, suppl.D,s.12. 2017. ISBN 978-80-7471-202-9. |
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Basic information | |
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Original name | Vzácné formy diabetu mellitu v dětství:Wolfram-like syndrom |
Name in Czech | Vzácné formy diabetu mellitu v dětství:Wolfram-like syndrom |
Authors | KONEČNÁ, Petra, Zuzana HRUBÁ, Jarmila SKOTÁKOVÁ, Lenka FAJKUSOVÁ, Zdeněk DOLEŽEL and Dagmar PROCHÁZKOVÁ. |
Edition | IV.Kongres pediatrů v Brně, Pediatrie pro praxi, 2017, suppl.D,s.12, 2017. |
Other information | |
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Original language | Czech |
Type of outcome | Conference abstract |
Field of Study | 30209 Paediatrics |
Country of publisher | Czech Republic |
Confidentiality degree | is not subject to a state or trade secret |
Organization unit | Faculty of Medicine |
ISBN | 978-80-7471-202-9 |
Keywords (in Czech) | diabetes mellitus Wolfram like syndrom |
Keywords in English | diabetes mellitus Wolfram like syndrom |
Changed by | Changed by: doc. MUDr. Dagmar Procházková, Ph.D., učo 45686. Changed: 13/10/2017 09:59. |
Abstract (in English) |
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Objective: The Wolfram-like syndrome-WFSL is a rare autosomal dominant disease characterised by the triad: congenital progressive hearing loss, diabetes mellitus and optic atrophy.Methods: the case of a boy with the juvenile form of diabetes mellitus, which clinically matched the symptoms of the Wolfram syndrome, was studied using molecular-genetic methods.Results: At the age of 3¼ years diabetes mellitus was diagnosed in a boy with severe psychomotor retardation, failure to thrive, a dysmorphic face with Peters’s anomaly type III (i.e. posterior central defect with stromal opacity of the cornea, adhering stripes of the iris and cataract with corneolenticular adhesion); congenital glaucoma; megalocornea; severe hearing impairment to deafness; one-sided deformity of the auricle with atresia of the bony and soft external auditory canal; non-differentiable eardrum; missing os incus; and hypothyreosis and nephrocalcinosis. Molecular-genetic examinations revealed de novo mutation of c.2425G>A in the WFS1 gen. No mutations were proved in the biological parents.Conclusions: Mutation c.2425G>A in the WFS1 gen is associated with the occurrence of the Wolfram-like syndrome-WFSL. |
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