[Clinical manifestations and diagnostic delay in Wolfram's syndrome].

UNLABELLED: 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.