Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome
Autozomálně dominantní
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.
Příznaky a projevy
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.
Co se diagnózou změní
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.
Analyzované geny
Známé také jako
FSGSNEDS
