Diagnostic Delays in Hereditary Nephropathies: Wolfram Syndrome Revealed by Diabetic Nephropathy in a Consanguineous Algerian Family

Background: Wolfram syndrome is a rare autosomal recessive neurodegenerative disorder characterized by juvenile-onset diabetes mellitus, optic atrophy, diabetes insipidus, sensorineural deafness, and progressive neurological deterioration. The diagnosis is often delayed due to the sequential appearance of clinical manifestations and the lack of multidisciplinary awareness.

Case Presentation: A 24-year-old Algerian man, born to first-degree consanguineous parents, with type 1 diabetes since age 4, was referred for chronic kidney disease (eGFR 24 mL/min). He presented with a permanent urinary catheter, polyuropolydipsia (4.5 L/day), visual impairment, bilateral hearing loss, and cerebellar syndrome. Ophthalmological examination revealed bilateral optic atrophy without diabetic retinopathy. Audiometry confirmed bilateral sensorineural deafness. Renal ultrasound showed severe hydronephrosis with significant post-void residual volume. His 18-year-old brother had similar symptoms but had never been investigated. The association of juvenile diabetes, optic atrophy, deafness, and familial presentation suggested Wolfram syndrome.

Conclusions: This case illustrates a 20-year diagnostic delay due to the progressive onset of manifestations and insufficient multidisciplinary coordination. Wolfram syndrome should be systematically suspected in young patients with diabetes and unexplained renal failure, optic atrophy, or deafness. Nephrologists must be vigilant for syndromic associations when evaluating diabetic nephropathy, particularly in consanguineous populations.