Titre du document / Document title

Manifestaciones clínicas y retraso diagnóstico en el síndrome de Wolfram = Clinical manifestations and diagnostic delay in Wolfram's syndrome

Auteur(s) / Author(s)

ESTEBAN BUENO G. ; GOMEZ TRUJILLO F. M. ;

Résumé / Abstract

Wolfram's syndrome (SW): diabetes mellitus (DM), diabetes insipidus (DI), blindness and deafness, is multiorganic, hereditary and uncommon. Mitochondrial dysfunction damages the oxidative pathway. Objective. To analyze the clinical characteristics, diagnostic delay in constituent diseases and early diagnostic impact over morbidity-mortality. Material and methods. Descriptive retrospective study of 23 Spanish patients with SW. Different clinical entities analysis, onset age, lapse of time before diagnosis, morbidity-mortality causes, prescribed therapy and consanguinity between parents. Results. Components prevalence: DM and optic atrophy (AO), 100%; auditory impairment, 95.65%; DI, 82.6%; gonadal atrophy, 75% in men; menstrual disorders, 87.5% in women. Other diseases: urinary tract, neurologic and heart disorders. Conclusions. Most of the patients will develop almost all the complications. Juvenile DM in association with AO is its best diagnostic criteria. Early therapy should delay progression and control mortality causes.

Revue / Journal Title

Revista Clinica Espanola   ISSN 0014-2565 

Source / Source

2006, vol. 206, n^o7, pp. 332-335 [4 page(s) (article)]

Langue / Language

Espagnol

Editeur / Publisher

Doyma, Madrid, ESPAGNE  (1940) (Revue)

Mots-clés d'auteur / Author Keywords

Wolfram ; DIDMOAD ; diabetes ; optic atrophy ; deafness ;

Localisation / Location

INIST-CNRS, Cote INIST : 6447, 35400013338141.0050