CMN 577: UNIT 1 - GENETIC DISORDERS| QUESTIONS WITH COMPLETE SOLUTIONS

What age most frequently has AIP? Correct Answer: 18-40 years T/F: Women have greater incidence of AIP than men Correct Answer: TRUE What are the s/sx of AIP? Correct Answer: 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? Correct Answer: asymmetric or bilateral mild to severe may cause respiratory dysfunction, quadriplegia, seizures, psychosis, and AMS What labs (+/-) reflect AIP? Correct Answer: 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? Correct Answer: 24h urine collection or random urine porphobilinogen level What is the normal value for a typical 24h porphobilinogen level? Correct Answer: /= 2.5 mg What is the normal value for a typical random urine porphobilinogen level? Correct Answer: /= 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. Correct Answer: TRUE What are some precipitating factors or exacerbating factors for AIP? Correct Answer: 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? Correct Answer: GLUCOSE High carb diet - at least 300 grams of carbs/day during acute attacks. Hemin/Panhematin When do you refer/hospitalize pt with AIP? Correct Answer: Refer -- pt with severe abd pain, mngt of seizurfes, or delusions Hospitalize -- pt wtih an acute attack with delusions, seizures, hyponatremia, or severe pain