Porphyria / Questions and case studies

Questions

 * 1) Outbreaks of clinical symptoms (abdominal pain, neuropsychiatric symptoms) after administration of some drugs ( barbiturates, anesthetics ) are caused by:
 * 2) * A - Inhibition of ferrochelatase and thus chelation of protoporphyrin IX with Zn.
 * 3) * B - Induction of increased delta-aminolevulate synthase production in the liver.
 * 4) * C - Succinyl-CoA deficiency, which is necessary for the formation of the initial metabolite, ie delta-aminolevulate.
 * 5) * D - Accumulation of delta-aminolevulate and porphobilinogen, which inhibit ATP-as in nervous tissue.
 * 6) Photosensitivity in some forms of porphyria is caused by:
 * 7) * A - Accumulation of porphyrins whose conjugated double bonds of the porphyrin core absorb light at a wavelength of 400 nm, leading to the accumulation of free radicals
 * 8) * B - Accumulated porphyrins inhibit the enzymes needed to form skin pigments - melanins.
 * 9) * C - Inhibition of glutathione reductase, which is needed to remove hydrogen peroxide.
 * 10) * D - Accumulation of porphobilinogen and delta-aminolevulinic acid, which cause the skin to be more sensitive to UV radiation.
 * 11) What is the pathobiochemical basis of exacerbation of porphyria variegata by ingestion of phenobarbital?
 * 12) What are the consequences of Fe deficiency on the blood count?
 * 13) Why is pyridoxine ( vitamin B6 ) deficiency often associated with microcytic hypochromic anemia?
 * 14) What is the effect of lead poisoning on porphyrin metabolism?

A patient with abdominal pain
A young nurse from South Africa is emotionally upset with hysteria, a few days after a laparotomy for "intestinal problems". A week before the operation, she was taking barbiturates to sleep. Then she had severe abdominal and muscle pain, general weakness, tendon reflexes were not present, she vomited. Urine dark, giving a brilliant pink fluorescence in UV light. Paralysis occurred within 24 hours and death within 2 days.

Questions:


 * 1) What was the diagnosis?
 * 2) Can her relatives have a similar illness?
 * 3) What is the enzymatic defect?
 * 4) What confirmatory tests to do?

A patient with anemia and diarrhea
The patient, 72 years old, suffered from intermittent diarrhea, lost weight, had no appetite and was pale. Liver 9 cm below the arch. Blood Count

Microcytic hypochromic anemia.

Questions:


 * 1) What can be the causes of Fe deficiency anemia?
 * 2) What is the best laboratory test to distinguish Fe deficiency anemia from anemia in chronic diseases?

Further course of the patient's disease: Occult bleeding in the stool repeatedly positive. An X-ray found a growing tumor in the sigmoid.

Diagnosis : colon cancer (malignancy anemia), elevated ALP and ALT without a corresponding increase in bilirubin arouse suspicion of liver metastases.

The patient, an alcoholic with a rash on the hands and face
A 48-year-old man who liked to drink heavily came to the ambulance with a rash on his hands and face. Questions:


 * 1) What diagnosis is most likely and why?
 * 2) What is the probable enzyme defect?

Related articles

 * Anemia
 * Iron
 * Porphyry
 * Other chapters from the book MASOPUST, J., PRŮŠA, R .: Pathobiochemistry of metabolic pathways

Source

 * MASOPUST, Jaroslav and Richard PRŮŠA. Pathobiochemistry of metabolic pathways. 1st edition. Prague: Charles University, 1999. 182 pp. 120-122.  ISBN 80-238-4589-6.

Category: Patobiochemistry. Pathophysiology, Internal medicine

Category: Patobiochemistry, Pathophysiology, Internal medicine