P-220: Glomerular filtration rate is lower in children with the onset of diabetes in Wolfram syndrome

Abstract Introduction Wolfram syndrome is a rare progressive disorder that often presents with insulin-dependent diabetes mellitus and may initially be misclassified as type 1 diabetes. This contributes to delayed diagnosis and late recognition of neurological and endocrine complications. Objectives To evaluate the feasibility of early identification of patients at high risk of Wolfram syndrome at the time of diabetes diagnosis using simple clinical indicators. Methods A single-center case–control study included 38 pediatric and young adult patients with insulin-dependent diabetes (19 with Wolfram syndrome and 19 with type 1 diabetes). Clinical data available at disease onset were analyzed, including age at diabetes diagnosis, parental consanguinity, and renal function parameters, such as serum creatinine and estimated glomerular filtration rate (eGFR). Results Patients with Wolfram syndrome developed diabetes at a younger age compared with those with type 1 diabetes: median 5.0 years [3.5–7.0] versus 8.4 years [6.15–10.11]. Parental consanguinity was present in more than half of patients with Wolfram syndrome and was not observed among patients with type 1 diabetes. At the time of diabetes diagnosis, lower eGFR values were also detected in the Wolfram syndrome group — 81.0 [72.5–117.0] mL/min/1.73 m2 versus 124.0 [114.5–129.0] mL/min/1.73 m2 in type 1 diabetes. The combined assessment of these features allowed differentiation of patients with Wolfram syndrome from those with classical type 1 diabetes with a high probability. Conclusions The use of simple clinical indicators, including age at diabetes onset and renal function parameters, may facilitate earlier recognition of Wolfram syndrome and support timely referral for targeted genetic testing and closer clinical follow-up.

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