Alport syndrome (AS) is a rare hereditary disease, in which there is a defect in type IV collagen, an essential constituent of basal membrane in kidney, ear and eye. This can cause progressive renal damage and eventually renal failure, as well as hearing loss and visual impairment. Definitive treatment, when end stage renal disease (ESRD) has ensued, is renal transplantation. Continue reading
Hereditary angioedema (HAE) is a life-threatening rare autosomal dominant (AD) disorder caused by C1-esterase inhibitor (C1-INH) deficiency or dysfunction. Continue reading
Crigler Najjar Syndrome (CNS) is an ultra-rare autosomal recessive inherited disorder caused by a mutation in the uridine glucronyl 5’-diphosphate-glucronyl transferase (UGT) gene. Continue reading
