Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome
Autoszomális domináns
Caused by a change in one copy of TRIM8, typically one that shortens the protein near its end. Where parents were tested, the changes arose de novo.
Tünetek és jelek
Developmental delay, intellectual disability and epilepsy, which can begin in infancy. Many develop protein in the urine from focal segmental glomerulosclerosis, which can progress to kidney failure. Less often the kidney disease occurs with only mild developmental features.
Mit változtat a diagnózis
Regular urine and kidney function checks so that kidney disease is found early, with seizure treatment and developmental support. Reported changes arose de novo in families where parents were tested, so genetic counselling and parental testing guide recurrence risk.
Vizsgált gének
Más néven
FSGSNEDS
