Clinical and Laboratory Characteristics of Fabry Disease in Children and Adults: A Focus on Early Kidney Findings

Background: Fabry disease may cause clinically silent kidney involvement before marked loss of kidney function. Objectives: To characterize pediatric and adult patients with Fabry disease, focusing on early kidney findings and age-related organ involvement. Methods: This retrospective, single center study included 16 patients followed between 2016 and 2026. GLA variants were identified by targeted next-generation sequencing. Patients were classified as children (≤18 years, n = 7) or adults (>18 years, n = 9) at the final evaluation. Results: Family screening identified 10 of 16 patients from six families. Six of these ten patients had no complaints before diagnosis. The median age at diagnosis was 24.5 years (range, 7–60). In nine patients with known symptom onset, the median onset age was 14 years (range, 8–35), and the diagnostic delay was 8 years (range, 1–30). At baseline, proteinuria was detected in eight (50%), hematuria in seven (43.8%), and hypertension in three patients (18.8%). Children had no hypertension or marked kidney dysfunction, although proteinuria and hematuria were each observed in two. Among adults, proteinuria occurred in six, microscopic hematuria in five, and hypertension in three. Left ventricular hypertrophy and valvular abnormalities occurred only in adults. At the final evaluation, proteinuria was present in 10 patients (62.5%). One adult experienced an estimated glomerular filtration rate decline from 70 to 14 mL/min/1.73 m2 and required kidney replacement therapy. Conclusions: The diagnostic delay underscores the value of family screening. At baseline, proteinuria and hematuria were observed in both age groups, whereas hypertension, cardiac abnormalities, and advanced kidney dysfunction were confined to adults. During follow-up, hypertension developed in one pediatric patient. These findings support kidney surveillance from childhood onward.