Clinical cases and Situational tasks

60. The investigation of the pancreatic gland secret showed the deficiency of the pancreatic inhibitor of trypsin. What is the danger of this condition?

Answer: All pancreatic enzymes, hydrolyzing proteins, are synthesized in the form of inactive zymogens, preserved in granules, surrounded by protein-lipid membrane. Pancreatic secret contains pancreatic inhibitor of trypsin, which inactivates that small amount of trypsine which may appear in it. The lack of this protein will cause the activation of the proteolytical enzymes yet in pancreas what will result in the damage of the gland tissue and vessels.

61. A patient was hospitalized with the complaints for diarrhea after bread consumption. Objectively weight loss, dehydration of the organism, adynaemia, sleep disorders were evaluated. Comprogram showed the domination of fatty acids and soap. The evaluation of blood serum showed the decreased content of calcium and phosphorus, decreased activity of the alkaline phosphatase, hypoglycaemia in the fasted state and plain glucose chart after sugar loading, acute decrease of the lipids content as well as free and bounded cholesterol. What disease may be suspected?

Answer: Based on the patient’s complaints, objective signs and results of the laboratory investigations celiacia may be diagnosed. This disease is characterized by the altered intestinal absorbtion due to the intolerance to grain protein – glyadine.

62. The clinical and laboratory examination of the patient evaluated the presence of the lactic acid in his gastric juice. What does it indicate? What should be recommended to the patient?

Answer: The presence of the lactic acid in gastric juice is the sign of the enhancement of the processes of the lactate fermentation in the stomach and proves the low concentration of the hydrochloric acid. Besides this, lactic acid is the product of malignant cells metabolism, that is why this patient should be advised the consultation of oncologist.

63. A patient manifests complaints for the pain in stomach, loss of apetite, general weakness. The laboratory investigation of urine evaluated the increased content of uropepsin. What do these changes indicate?

Answer: The content of uropepsin in urea is determined with the purpose of the evaluation of the secretory activity of the gastric mucosa. The increase of this index is detected in peptic ulcer disease, mainly in the involvement of the duodenum as well as in the treatment with corticosteroids.

64. A 3-year-old boy with failure to thrive and possible hepatic failure. He presents with hypoglycemia and recurrent episodes of nausea and vomiting

after ingestion of foods high in fructose. What is the most likely diagnosis? What biochemical basis of this disorder?

Answer: Diagnosis: Fructose intolerance.Biochemical basis of disorder: Because of a genetic disorder, the hepatic aldolase B enzyme is defective, and functions normally in glycolysis but not in fructose metabolism. Glucose production is inhibited by elevated fructose 1-phosphate. When fructose is ingested, severe hypoglycemia results. Treatment: Avoid dietary fructose.

Individuals with a deficiency in aldolase B have the condition known as fructose intolerance. As with most enzyme deficiencies, this is an autosomal recessive disease; it does not cause difficulty as long as the patient does not consume any foods with fructose or sucrose. Frequently, children with fructose intolerance avoid candy and fruit, which should raise some eyebrows! Likewise, they usually do not have many dental caries. However, if chronically exposed to fructose-containing foods, infants and small children may have poor weight gain and abdominal cramping or vomiting.

65. A 38-year-old female complains of alternating constipation and diarrhea associated with times of stress and abdominal cramping and bloating relieved with bowel movements. She is prescribed a cellulose dietary supplement. What is the most likely diagnosis? What biochemical basis of this disorder?

Answer: Diagnosis: Irritable bowel syndrome. Biochemical mechanism: Cellulose-containing foods are not digestible but swell up by absorbing water and correlate with larger softer stools. The increase in dietary fiber also increases the intestinal transit time and decreases the intracolic pressure, thereby decreasing the symptoms of irritable bowel.

Irritable bowel syndrome affects many individuals in Western countries, and it manifests as abdominal cramping and bloating in the absence of disease. It is thought to be caused by increased spasms of the intestines. Constipation with or without episodes of diarrhea may be seen. Weight loss, fever, vomiting, bloody stools, or anemia would be worrisome and should not be attributed to irritable bowel syndrome. Typically, affected patients are anxious and may be under stress. After ruling out other disease processes, a trial of fiber-containing foods, stress reduction, and avoidance of aggravating foods are effective therapies. Patients should be advised to avoid laxative use. Rarely antispasmodic or antiperistaltic agents can be used. Notably, increased fiber in the diet may also decrease the absorption of fats and may lower the risk of colon cancer.

66. During your medical school training, you spend some time in a pediatric clinic in a third-world country. One of the first patients you encounter is an 8-monthold girl brought to the clinic because of excessive exhaustion and fatigue. On further questioning of the mother, she reports that she was previously breastfeeding but had to stop to return to work. To feed all of her other children, she has had to dilute her formula with water to make the formula last longer for the entire family. After your physical exam is performed, you diagnose the infant with severe malnutrition and aid the mother with resources to increase food intake for their household. What is this syndrome called (with deficiencies in both calories and protein)? What is the difference between this syndrome and kwashiorkor syndrome? What physical findings might differentiate the two syndromes?

Answer: Diagnosis: Marasmus. Physical findings of kwashiorkor and not marasmus: Subcutaneous fat, distended abdomen, hepatomegaly, and fatty liver. Protein-energy malnutrition is caused by inadequate food intake or diseases that interfere with food absorption or digestion. The two major types of malnutrition are marasmus and kwashiorkor. In marasmus, a child usually between the ages of 1 to 3 years has inadequate caloric intake leading to loss of subcutaneous fat, loose wrinkled skin, and either flat or distended abdomen resulting from atropic abdominal wall muscles. Often, children are susceptible as they go from breast milk to solid food. The affected child usually has the appearance of an “old person’s face.” In kwashiorkor, the main issue is lack of protein, leading to edema, sparse hair, enlarged liver, and a distended abdomen. The edema of the face and legs is different from that of marasmus. The therapy for both of these diseases is caloric replacement.

67. A 22-year-old soldier collapses from dehydration during maneuvers in the desert and is sent to a military hospital. Prior to enlisting, a physician observed a high level of glucose in his urine during an examination. At first, he was not allowed to enlist because he was suspected of being a diabetic. Further tests, however, determined that his insulin level was normal. A glucose tolerance test exhibited a normal pattern. Laboratory tests following his dehydration episode repeat the previous findings, but further testing of the urine reveals that only D-glucose is elevated. Other sugars were not elevated. This patient’s elevated urinary glucose and his dehydration episode are caused by a deficiency in?

Answer: Because the patient’s liver enzymes are normal and her symptoms seem to correlate with her intake of fruit juices, most likely her problem stems from an inability to absorb fructose. Since removal of cow’s milk from her diet did not eliminate the problem, a lactase deficiency can be ruled out. GLUT 5 is the primary transporter of fructose in the intestine and a deficiency in this transporter would lead to an inability to absorb fructose in the gut, making it a substrate for bacterial metabolism that produces various gases, including hydrogen, as well as organic acids.

68. A 24-year-old African-American female presents with complaints of intestinal bloating, gas, cramps, and diarrhea following a meal including dairy products. A lactose-tolerance test confirms your suspicion that she had a deficiency of lactase in her intestine. Which of dairy products could you recommend that would be least likely to cause her difficulties in the future?

Answer: The microorganisms that convert milk to yogurt (Streptococcus salivarius thermophilus and Lactobacillus delbrueckii bulgaricus) metabolize most of the lactose in the milk, thus removing the source of this patient’s intestinal disquietude. Yogurt is also a good source of dietary calcium.