Wolfram syndrome: a case report with severe polyuria and secondary urological abnormalities
نویسندگان
چکیده
Wolfram syndrome is the condition characterized by juvenile onset diabetes mellitus and optic atrophy, which also known as DIDMOAD. Classical a rare autosomal recessive disorder caused mutations in WFS1, gene involved endoplasmic reticulum mitochondrial function. Patients present with type 1 followed atrophy first decade, insipidus sensorineural deafness second dilated renal outflow tracts early third various neurological abnormalities fourth decade. We describe case report of 14-year-old male child diagnosed wolfram mellitus, insipidus, deafness, severe urological abnormalities. who insulin-dependent together should be evaluated respect to Syndrome. If patient, presents persistent polyuria or neurogenic bladder despite good glycemic control, suspicion further evaluation regarding same must made. Recognizing timely management this will help improve quality life patient.
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ژورنال
عنوان ژورنال: International Journal of Contemporary Pediatrics
سال: 2021
ISSN: ['2349-3283', '2349-3291']
DOI: https://doi.org/10.18203/2349-3291.ijcp20211091