DOI: https://doi.org/10.36347/sjmcr.2025.v13i03.015

Pages: 396-398

Introduction: Fabry disease is the most common lysosomal storage disorder. The classic form, which occurs in males with α-Gal A enzyme activity below 1%, typically begins in childhood or adolescence. Progressive deterioration of renal function, leading to end-stage renal disease (ESRD), usually occurs between the third and fifth decades of life. We report the case of a child diagnosed with Fabry disease at the age of 6 years, who developed chronic kidney disease (CKD) at the age of 9 years, and subsequently started hemodialysis at the age of 15 years. Medical Observation: The patient, Y.Y., a 6-year-old child, had a family history of Fabry disease, with an older brother undergoing treatment while maintaining normal renal function, and a maternal uncle who was on hemodialysis for an undocumented nephropathy before passing away. The patient was referred to the Med VI UHC in Marrakech for recurrent fever with splenomegaly. Clinical examination revealed: Hyperthermia at 39.1°C with anhidrosis, Abdominal distension with diffuse tenderness and a palpable spleen, Acroparesthesias and angiokeratomas, General deterioration in health and growth retardation. An electrocardiogram (ECG) showed sinus rhythm with signs of left ventricular hypertrophy (LVH), which was confirmed by echocardiography. Initial biological tests revealed normal renal function, but with a severely reduced plasma galactosidase level (0 µmol/L/h) and a Plasma Lyso-GL3 level of 123 ng/ml, confirming the diagnosis of Fabry disease. Over the following nine years, the patient's renal function progressively deteriorated, leading to end-stage renal disease (ESRD) and the initiation of hemodialysis at the age of 15. Conclusion: End-stage renal failure due to Fabry disease is exceedingly rare but possible in children. A detailed family history should be obtained, and Fabry disease must be considered in the differential diagnosis as a potential cause of unexplained renal failure in young boys.