CMN 577 UNIT 1 - GENETIC DISORDERS

CMN 577: UNIT 1 - GENETIC DISORDERS What age most frequently has AIP? - 18-40 years T/F: Women have greater incidence of AIP than men - TRUE What are the s/sx of AIP? - 1. intermittent abdominal pain 2. complete resolution of sx between attacks 3. neurological sx -- neuropathy (peripheral or autonomic) 4. nausea, constipation, urinary retention, muscle weakness, and dark (reddish) urine What are the neuropathy characteristics and sx of AIP? - asymmetric or bilateral mild to severe may cause respiratory dysfunction, quadriplegia, seizures, psychosis, and AMS What labs (+/-) reflect AIP? - 1. significant hyponatremia 2. no fever and absence of leukocytosis 3. increased quantities of porphobilinogen found in the urine during an ACUTE attack 4. Normal findings on US, XR, CAT scan, and MRI What tests would you order on pt with AIP? - 24h urine collection or random urine porphobilinogen level What is the normal value for a typical 24h porphobilinogen level? - /= 2.5 mg What is the normal value for a typical random urine porphobilinogen level? - /= 2.0 mg/L T/F: Fresh urine may be clear and normal in color but will darken upon standing for a brief period of time. - TRUE What are some precipitating factors or exacerbating factors for AIP? - Smoking, ETOH use, stress, exposure to sunlight, dieting/fasting Certain meds -- sulfa, barbiturates, hormones (estrogen/progesterone), e-mycin, and spironolactone What is the tx for AIP? - GLUCOSE High carb diet - at least 300 grams of carbs/day during acute attacks. Hemin/Panhematin When do you refer/hospitalize pt with AIP? - Refer -- pt with severe abd pain, mngt of seizurfes, or delusions Hospitalize -- pt wtih an acute attack with delusions, seizures, hyponatremia, or severe pain Who is the incidence of Down Syndrome highest in? - Mothers starting at age 35-45