Early presentation of urological abnormalities in a case of Wolfram syndrome

被引:0
作者
Lalwani, Shilika [1 ]
Shekhawat, Vikram Singh [1 ]
Nachankar, Amit [1 ]
Dwivedi, Aradhana [2 ]
机构
[1] Army Hosp Res & Referral, New Delhi, India
[2] Command Hosp Pune, Pune, India
关键词
Diabetes; Genetics; Retina; Urology; Pediatrics; OPTIC ATROPHY;
D O I
10.1136/bcr-2024-260822
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disorder characterised by arginine vasopressin deficiency (AVP-D), juvenile type 1 diabetes mellitus (DM), optic atrophy (OA) and deafness. We describe an early adolescent female child being managed initially as a case of juvenile type 1 DM presented with urinary retention and diminished visual acuity. Further evaluation confirmed OA and stage IV chronic kidney disease secondary to bilateral hydro-uretero-nephrosis and urinary bladder atrophy. Though AVP-D and sensorineural deafness were absent, the diagnosis of WS was established clinically and confirmed by genetic analysis. Rarity of our case was in the early involvement of bilateral renal tracts. Renal tract involvement in juvenile type 1 DM should raise suspicion of pathology other than microvascular complication. High suspicion and careful evaluation are required to make a diagnosis of WS in juvenile type 1 DM.
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页数:5
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