Discovery
Kidneys
Alport Syndrome is an hereditary kidney disease that is characterized by worsening fibrosis leading to progressive loss of kidney function and failure, requiring dialysis or transplantation to preserve life. Though classified as a rare disease, and estimated to affect approximately 100,000 people in the United States, the advent of more widespread genetic testing has meant that many cases of previously unidentified kidney disease are now known to be due to Alport Syndrome.
lungs
Most cases of pulmonary fibrosis have no known cause and, accordingly, are labelled as Idiopathic Pulmonary Fibrosis (IPF), a condition that is estimated to affect approximately 100,000 people in the United States.
Liver
Beyond the commoner causes of liver cirrhosis such as alcohol and NASH that primarily affect liver cells (hepatocytes), a much smaller group of patients are afflicted by fibrosing diseases that begin in the bile ducts. These conditions such as primary sclerosisng cholangitis, while less common, not only frequently progress to liver failure but often recur after transplantation.