A 52-year-old man was brought to the local hospital emergency department by his brother. The man had notable ascites of the abdomen and was breathing erratically. His history showed that he had abused alcohol in the past, but he now considered himself recovered. Blood samples were taken and the following results were obtained: total protein, decreased; albumin, decreased; g-glutamyl transferase (GGT), extremely elevated; alkaline phosphatase (ALP), increased; aspartate transaminase, normal; alanine transaminase (ALT), elevated; serum creatinine and urea, extremely elevated; serum sodium, decreased; prothrombin time, increased. Blood gas analysis was performed with the following results: pH 7.2; bicarbonate, decreased; Pco2 elevated. The man was admitted immediately to the intensive care unit of the hospital. Questions: 1.What is the most likely diagnosis for this individual? (2 pts) 2.How do the laboratory results support this diagnosis? (5 pts) 3.What organ systems are involved in the appearance of the symptoms? (3 pts)

OneClass: A 52-year-old man was brought to the local hospital emergency department by his brother. Th...

Case 2 (7.5 pts)

R. S., a 55-year-old man, has been admitted to the hospital for treatment of acute gastrointestinal bleed. He is well known to the medical community for his chronic alcohol abuse and encephalopathy.

Past History: R. S. has been hospitalized four times in the past 24 months; most recently he was discharged 12 weeks ago for treatment of upper gastrointestinal bleeding. He has a 40-year history of smoking and drinks an unknown quantity of liquor daily. On previous admissions he has been treated for pancreatitis, alcohol withdrawal seizures, cirrhosis and associated ascites, coagulopathy, esophageal varices, anemia, gastrointestinal bleed, and gastritis.

Current Status: His current problems include hepatic encephalopathy, gastrointestinal bleed, coagulopathy, jaundice, history of tuberculosis (age 15 with treatment), and hypoxia; all present were on previous admission. Medications at last discharge included spironolactone (25 mg twice a day), ranitidine (150 mg twice a day), antacid (Maalox), and multivitamins.

R. S. was found unconscious in a pool of blood and vomitus. He was taken to the hospital and admitted to the medical intensive care unit. Initial vital signs were as follows: blood pressure 90/60, heart rate 112, and respirations 12. Intravenous infusion with normal saline was begun through a central line; oxygen was started at 3 L by nasal cannula. Physical examination revealed icteric sclera, clear lungs, grade Ill/TV systolic ejection murmur, and abdomen soft and without masses, liver percussed at 12 cm below the costal margin, and skin markedly jaundiced. Deep tendon reflexes were brisk and equal bilaterally.
Lab tests revealed the following: sodium 137 mEq/L, potassium 4.8 mEq/L, chloride 102 mEq/L, carbon dioxide 23 mEq/L, blood urea nitrogen 132 mg/dl, creatinine 1.3 mg/dl, glucose 115 mg/dl, hematocrit 27.7%, hemoglobin 9.3 g, white blood cell count 17,800 mm3, platelets 259,000 mm3, direct bilirubin 7.8 mg/dl, total bilirubin 16.4 mg/dl, amylase 42 somogyi units/dl, alkaline phosphatase 127 mu/dl, ammonia level 200 mg. Blood gases were as follows: Po.2 85 mm Hg, PCO2 30 mm Hg, pH 7.35, prothrombin time (PT) patient 17 sec., prothrombin time (PT) control 12.3 sec., partial prothrombin time (PIT) 46/36 sec.
Treatment with blood replacement was initiated; it included transfusion of 6 units fresh frozen plasma and 5 units packed red blood cells, with antacids, ranitidine, vitamin K, thiamine, and lactulose by nasogastric tube.
On the following day R. S.âs mental status was improved and his laboratory studies were as follows: sodium 133 mEq/L. potassium 3.5 mEq/L, chloride 105 mEq/L, blood urea nitrogen 15 mg/dl, creatinine 0.7 mg/dl, glucose 114 mg/dl, hematocrit 38.7%, white blood cell count 5200 mm3, PT 15.7/12 sec., ammonia 93 mg, alkaline phosphatase 92 m/dl. Vital signs were as follows: blood pressure 116/72, heart rate 72, respirations 15, afebrile.
On day 2 he was oriented X3 and was transferred from the intensive care unit. During the course of his hospitalization his total bilirubin ranged from 16.4 mg/dl down to 10.7 mg/dl at discharge.

What is the physiological benefit of having a hepatic portal system?

Does R.S have elevated bilirubin? If yes, does the portion of the total bilirubin that is direct indicate pre hepatic, post hepatic or an intrahepatic problem?

What is ascites? How do hypoalbuminemia and increased serum aldosterone levels contribute to the development of ascites?

Explain the cause of the patientsâ clotting defects.

The sclera of R. S.âs eyes are icteric and his skin yellowed. What is the cause of

these discolorations, and what do they indicate about his pathophysiology?

Explain why esophageal varices are the leading cause of death in patients with cirrhosis

purplecoyote500

The following CASE REPORT is given:

This 3 1/2-year-old boy was born to nonconsanguineous parents from Chihuahua, Mexico after an uncomplicated pregnancy and delivery. A brother had died at 3 months of age of a "liver problem" after an unexplained coma. The parents and three siblings are well.

At 3 months of age the boy was admitted in coma to a community hospital and suffered a cardiac arrest. Examination revealed hepatomegaly and cardiomegaly and a serum glucose of 15 mg/del (normal, 60-100 mg/dl). The patient eventually recovered and the hepatomegaly resolved. At 6 months of age he developed congestive heart failure after an upper respiratory tract infection and was brought o the medical center of the University of California, Los Angeles. Hepatomegaly and hypotonia were noted on admission. ON day 3 he became lethargic and developed generalized seizure activity and cardiac arrest, but he was successfully resuscitated. Laboratory studies at the time of the arrest revealed a blood glucose level of 15 mg/dl without associated acidosis or ketosis; mild elevation of serum aspartate aminotransferase (SGOT) (337 I.U./liter; normal, 6-36 I.U./liter) and alanine aminotransferase (SGPT) (179 I.U./liter; normal, 10-45 I.U./liter); and hyperammonemia (300 ug/dl; normal <69 ug/dl). Delayed milestones (developmental quotient 66; normal, 100), proximal-muscle weakness, and growth retardation (weight and height below the 3rd percentile) were noted after recovery. Metabolic studies showed normal glucose, galactose, and fructose tolerance, and a normal 10-hour fasting blood glucose, with no increase in lactate, pyruvate, or ketone bodies. The electroencephalogram, brain scan, and chromosomal studies were unremarkable. Also normal were the plasma levels of electrolytes, calcium, phosphorus, magnesium, bilirubin, thyroxine, thyroid-stimulating hormone, and growth hormone. Results of total serum protein determination, serum electrophoresis, cerebrospinal fluid studies, and studies of immune function were also normal. Between acute episodes, serum levels of glucose, ammonia, SGOT, SGPT, and creatine phosphokinase were all normal.

The patient was again admitted with cardiorespiratory arrest after upper respiratory tract infections at the ages of 20, 24, and 33 months. The episodes were associated with liver enlargement, elevations of transaminases to >2000 I.U./liter, and of creatine phosphokinase from 1500 to 33,000 I.U./liter. Maintenance glucose requirements varied from normal (3 mg/kg of body weight per minute) to slightly elevated (5-7 mg/kg/min).

A muscle biopsy specimen contained large amounts of neutral lipids. Liver biopsy also showed severe but nonspecific fatty changes. Abnormal mitochondrial structure, many electron-dense lysosome-like bodies, and dense, laminate, rounded lipofuscin-like particles were evident.

A thirty-two hour fasting study was performed. During the fasting period the patient had no nausea, cramps, or pigmenturia. However, at thirty-two hours he suddenly had a cardiorespiratory arrest characterized by an absence of cardiac electrical activity. He was successfully resuscitated and intravenously glucose was administered.

At the start of the fast his blood glucose level was 92 mg/dl, but by twenty-four hours it had fallen to 66 mg/dl. Plasma triglyceride levels rose from 66 to 126 mg/dl and free fatty acids increased from 0.1 to 2.0 mEq/liter. Serum SGOT rose from 36 to 1450 I.U./liter, with no increase in creatine phosphokinase or aldolase. Ammonia increased from 40 to 134 ug/dl. The most significant finding, however, was the lack of production of measurable ketone bodies.

During the 11th admission, the diagnosis of carnitine deficiency was considered because of fatty changes in the liver and the lack of production of ketone bodies after twenty-four hours of fasting. At that time the patient's height and weight were normal but his developmental quotient was 40, and he had a variety of neuromuscular abnormalities. A computerized axial tomography (CAT) scan of the brain revealed marked enlargement of both lateral ventricles and of the sulci between the cerebral gyri.

QUESTION: For treatment of a systemic carnitine deficiency, the patient was given carnitine supplements and a diet that was high in carbohydrates, low in fat and had 20% of the calories from protein. It was recommended that the fat comes from medium-chain triglycerides. Explain how this diet will help relieve the symptoms of the patient.

peachmammoth740

The following CASE REPORT is given:

This 3 1/2-year-old boy was born to nonconsanguineous parents from Chihuahua, Mexico after an uncomplicated pregnancy and delivery. A brother had died at 3 months of age of a "liver problem" after an unexplained coma. The parents and three siblings are well.

At 3 months of age the boy was admitted in coma to a community hospital and suffered a cardiac arrest. Examination revealed hepatomegaly and cardiomegaly and a serum glucose of 15 mg/del (normal, 60-100 mg/dl). The patient eventually recovered and the hepatomegaly resolved. At 6 months of age he developed congestive heart failure after an upper respiratory tract infection and was brought o the medical center of the University of California, Los Angeles. Hepatomegaly and hypotonia were noted on admission. ON day 3 he became lethargic and developed generalized seizure activity and cardiac arrest, but he was successfully resuscitated. Laboratory studies at the time of the arrest revealed a blood glucose level of 15 mg/dl without associated acidosis or ketosis; mild elevation of serum aspartate aminotransferase (SGOT) (337 I.U./liter; normal, 6-36 I.U./liter) and alanine aminotransferase (SGPT) (179 I.U./liter; normal, 10-45 I.U./liter); and hyperammonemia (300 ug/dl; normal <69 ug/dl). Delayed milestones (developmental quotient 66; normal, 100), proximal-muscle weakness, and growth retardation (weight and height below the 3rd percentile) were noted after recovery. Metabolic studies showed normal glucose, galactose, and fructose tolerance, and a normal 10-hour fasting blood glucose, with no increase in lactate, pyruvate, or ketone bodies. The electroencephalogram, brain scan, and chromosomal studies were unremarkable. Also normal were the plasma levels of electrolytes, calcium, phosphorus, magnesium, bilirubin, thyroxine, thyroid-stimulating hormone, and growth hormone. Results of total serum protein determination, serum electrophoresis, cerebrospinal fluid studies, and studies of immune function were also normal. Between acute episodes, serum levels of glucose, ammonia, SGOT, SGPT, and creatine phosphokinase were all normal.

The patient was again admitted with cardiorespiratory arrest after upper respiratory tract infections at the ages of 20, 24, and 33 months. The episodes were associated with liver enlargement, elevations of transaminases to >2000 I.U./liter, and of creatine phosphokinase from 1500 to 33,000 I.U./liter. Maintenance glucose requirements varied from normal (3 mg/kg of body weight per minute) to slightly elevated (5-7 mg/kg/min).

A muscle biopsy specimen contained large amounts of neutral lipids. Liver biopsy also showed severe but nonspecific fatty changes. Abnormal mitochondrial structure, many electron-dense lysosome-like bodies, and dense, laminate, rounded lipofuscin-like particles were evident.

A thirty-two hour fasting study was performed. During the fasting period the patient had no nausea, cramps, or pigmenturia. However, at thirty-two hours he suddenly had a cardiorespiratory arrest characterized by an absence of cardiac electrical activity. He was successfully resuscitated and intravenously glucose was administered.

At the start of the fast his blood glucose level was 92 mg/dl, but by twenty-four hours it had fallen to 66 mg/dl. Plasma triglyceride levels rose from 66 to 126 mg/dl and free fatty acids increased from 0.1 to 2.0 mEq/liter. Serum SGOT rose from 36 to 1450 I.U./liter, with no increase in creatine phosphokinase or aldolase. Ammonia increased from 40 to 134 ug/dl. The most significant finding, however, was the lack of production of measurable ketone bodies.

During the 11th admission, the diagnosis of carnitine deficiency was considered because of fatty changes in the liver and the lack of production of ketone bodies after twenty-four hours of fasting. At that time the patient's height and weight were normal but his developmental quotient was 40, and he had a variety of neuromuscular abnormalities. A computerized axial tomography (CAT) scan of the brain revealed marked enlargement of both lateral ventricles and of the sulci between the cerebral gyri.

QUESTION: What is the cause of hypoglycemia in this patient and would you expect this same symptom for myopathic carnitine deficiency?

rosepug44

Unlock all answers

Related textbook solutions

Molecular Cell Biology

Biology: Science for Life with Physiology

Biology

Concepts of Biology

Essentials of Biology

Related questions

Weekly leaderboard