SP004EFFECTS OF LONG-TERM MIGALASTAT TREATMENT ON RENAL FUNCTION BY BASELINE PROTEINURIA IN PATIENTS (PTS) WITH FABRY DISEASE

Abstract

underwent genetic testing were identified. 13 (65%) and 14 (87.5%) cases of paediatric and adult onset, respectively, had a positive family history of kidney disease in first-or second-degree relatives. 5 (25%) and 4 (25%) cases of paediatric and adult onset, respectively, had extra-renal clinical features suggestive of underlying genetic disorder. 13 patients had no abnormal genetic variants identified. 23 patients had 1 abnormal genetic variant identified, including both genetically unresolved cases (n¼8) and genetically resolved cases (n¼15). Resolved cases of paediatric onset (n¼9) and adult onset (n¼6) are summarized in Tables 1 and 2, respectively. CONCLUSIONS: Yield of molecular genetic testing was high (41.67%) in patients with clinical presentations suggestive of hereditary proteinuric kidney disease, and was comparable in those with paediatric (45.0%) and adult (37.5%) onset of disease. Molecular genetic testing for suspected hereditary proteinuric kidney diseases should be considered in both paediatric and adult patients alike.