Porphyria / Questions and case studies

Questions

 * 1) Emergence of clinical symptoms (abdominal pain, neuropsychiatric symptoms) after administration of some drugs (barbiturates, anesthetics) is caused by:
 * 2) * A - Inhibition of ferrochelatase and thus chelation of protoporphyrin IX with Zn.
 * 3) * B - Induction of increased delta-aminolevulinate synthase production in the liver.
 * 4) * C - Succinyl-CoA deficiency, which is necessary for the formation of the initial metabolite, i.e., delta-aminolevulinate.
 * 5) * D - Accumulation of delta-aminolevulinate and porphobilinogen, which inhibit ATPase 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 - melanin.
 * 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, and she vomited. Urine was 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
A patient, 72 years old, suffered from intermittent diarrhea, weight loss, and loss of appetite and was pale. Liver is enlarged 9 cm below the costal arch. Blood Count

This is indicative of microcytic hypochromic anemia.

Questions:


 * 1) What are 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 colon.

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

An alcoholic patient with a rash on the hands and face
A 48-year-old man who liked to drink heavily came to the clinic 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
Other chapters from the book MASOPUST, J., PRŮŠA, R .: Pathobiochemistry of metabolic pathways:
 * Anemia
 * Iron
 * Porphyria


 * Nutrition: Energy metabolism and its disorders • Nutritional disorders • Examination of nutritional status
 * Carbohydrates: Glucose metabolism disorders • Glycogenosis
 * Lipids: Disorders of lipid metabolism
 * Other: Disorders of ureagenesis • Porphyria • Disorders of uric acid metabolism
 * Water, trace elements and minerals : Sodium • Potassium
 * Questions and case reports : Glucose metabolism disorders • Nutritional disorders • Water • Acid-base balance • Bilirubin • Porphyria • Uric acid metabolism disorders • Glycogenosis • Lipid metabolism disorders • Eicosanoids • Hereditary amino acid metabolism disorders • Gene expression disorders

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.