NUR 305 Study Guide - Final Guide: Acute Respiratory Distress Syndrome, Airway Obstruction, Pulmonary Edema
22 Aug 2016
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A disorder of the connective tissue that results in elastin & collagen defects. Neurofibromatosis: a defect on chromosome 17 or 22. Type 1: subcutaneous lesions, cafe-au-lait spots, freckles, scoliosis, nervous. Type 2: tumors of the acoustic nerve system tumors. Autosomal recessive disorders rare, two copies of disease to have, one copy=carrier. Pku (phenylketonuria): mutation on chromosome 12 leads to an error in converting phenylalanine tyrosine. Appears normal at birth, but fails to meet milestones. Tay-sachs: deficiency or absence of hexosaminidase a (necessary to metabolize lipids). X-linked disorders female-50% chance of getting disorder from their mother. male- 50% chance of being carriers. All daughters of affected males will be carriers, but none of their sons. Fragile x syndrome: lack of a protein necessary for neural tube development, associated with a single trinucleotide gene sequence on the x chromosome. Manifestations: mental retardation, long face with large mandible, large ears, large.
