HY Concept 642 (A HUGE lumpin concept)

[tommyk]

OK, OK, you will be asked a lot of inheritance pattern questions. That is because you will have to explain to your patients their risks of passing their dx to their children. So, for all autosomal dominant disorders, we discussed they are STRUCTURAL PROTEIN disorders. They have 50% inheritance patterns.

Also, most autosomal recessive disorders are enzyme and "-emia" (blood stuff) related. Except for three common "-emias", that is: Hereditary spherocytosis, von Willebrand disease, Protein C deficiency (REMEMBER AT LEAST THESE THREE EXCEPTIONS), the enzyme and "-emia" diseases are autosomal recessive. The exceptions to the blood "emia" rule is initials H.P.V. as seen above. This is an abbreviation "mnemonic". AR is 25% passed on.

[GFLIP]

... does anyone know how uremia (kidney failure) interferes with vWF ???