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Dyamond's DiagnosisLiver: Progressive Familial Intra Hepatic Cholestasis – Type 3 The name PFIC was coined in the early 1980's to describe the clinical findings in a form of liver disease that affects children. Taken word for word, it means: Progressive: tending to get worse over time; Familial: passed down to a child from the parents by way of the genes; Intrahepatic: involves disease inside the liver and not the bile ducts outside the liver; Cholestasis: means poor bile flow and build-up of substances in the liver that should be put into bile. How do you get PFIC? PFIC is passed from parents to children (inherited) through genes. Genes are our genetic material, and lie on our chromosomes in the cells of our bodies. Genes are codes for each trait in our bodies. Each person receives two copies of each gene in their body: one copy from their mother and one from their father. For a child to get PFIC they must receive two changed copies of a gene, one each from the mother and the father. These changes in genes are called mutations. Carrying one changed copy of a gene and one normal copy of a gene does not usually cause disease, and is relatively common. Thus parents of children with PFIC usually have no liver or other medical problems. One exception to this may be that women with one changed PFIC gene may develop liver disease during pregnancy. Visit: www.pfic.org Kidney: Advance Global Glomerulosclerosis Taken word for word, it means: Advanced: later to end stag;e Global: all over the kidney , as opposed to just one area; Glomerulosclerosis: fibrosis and scarring of the renal glomeruli. The glomeruli are little tiny blood vessels that make up nephrons, nephrons are the functioning part of the kidney. Visit: www.kidney.org Blood: Congenital Hemolytic Anemia Blood disorder that is present from birth and in which the lifespan of red blood cells is diminished. Congenital hemolytic anemia is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Congenital hemolytic anemia, or a subtype of Congenital hemolytic anemia, affects less than 200,000 people in the US population. Portal Hypertension Abnormally increased pressure in the portal venous system, frequently seen in cirrhosis of the liver and other conditions causing obstruction of the portal vein. Portal hypertension is also listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Portal hypertension, or a subtype of Portal hypertension, affects less than 200,000 people in the US population. Splenomegoly Varcies of the Esophagus |
