Investigation of Non-Protein Nitrogen Compounds Flashcards

1
Q

What is the main source of ammonia in the body?

A

Protein catabolism (deamination of amino acids).

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2
Q

How is ammonia eliminated?

A

Converted into urea in the liver and excreted by the kidneys.

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3
Q

What enzyme is responsible for the first step of the urea cycle?

A

Carbamoyl Phosphate Synthetase I (CPS I).

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4
Q

What is the most common sample type for ammonia measurement?

A

Plasma (collected in EDTA or lithium heparinate tubes).

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5
Q

What precautions should be taken when collecting ammonia samples?

A

Transport on ice, process immediately to avoid false elevation.

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6
Q

What are the main methods for measuring ammonia?

A

Colorimetric (Berthelot reaction), Enzymatic, and Electrochemical methods.

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7
Q

What is the normal range of ammonia in blood?

A

14 – 38 µmol/L.

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8
Q

What is the normal range of ammonia in urine?

A

30 – 60 mmol/24h.

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9
Q

What are the causes of hyperammonemia?

A

Liver failure (cirrhosis, hepatitis), Urea cycle disorders, Organic acidemias, Metabolic acidosis.

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10
Q

What clinical symptoms suggest hyperammonemia?

A

Confusion, tremors, encephalopathy, vomiting, seizures, coma.

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11
Q

A neonate has hyperammonemia, vomiting, and lethargy. What is the likely diagnosis?

A

Urea cycle disorder (OCT or CPS deficiency).

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12
Q

Why should patients avoid smoking before ammonia testing?

A

Smoking increases plasma ammonia levels.

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13
Q

What test can confirm a urea cycle disorder?

A

Measurement of urea cycle enzyme activity and blood amino acid chromatography.

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14
Q

Why is ammonia measured in hepatic encephalopathy?

A

High ammonia levels correlate with neurological deterioration.

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15
Q

How is hyperammonemia treated?

A

Lactulose, low-protein diet, sodium benzoate, arginine supplementation.

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16
Q

What is the main function of urea?

A

Excretion of nitrogenous waste via urine.

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17
Q

Where is urea synthesized?

A

Liver (urea cycle).

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18
Q

How is urea eliminated?

A

Filtered by the kidneys, partially reabsorbed, and excreted in urine.

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19
Q

What is the most common sample type for urea measurement?

A

Serum or heparinized plasma.

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20
Q

What are the main methods for measuring urea?

A

Enzymatic (urease-based), Colorimetric (Berthelot reaction), and Electrochemical techniques.

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21
Q

What is the normal range of urea in blood?

A

0.15 – 0.45 g/L.

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22
Q

What is the normal range of urea in urine?

A

18 – 30 g/day.

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23
Q

What conditions cause hypoazotemia (low urea)?

A

Liver failure, malnutrition, pregnancy.

24
Q

What conditions cause hyperazotemia (high urea)?

A

Kidney disease, dehydration, high protein intake, infections.

25
Q

A patient has high urea but normal creatinine. What does this indicate?

A

Dehydration.

26
Q

What is the most common clinical use of urea measurement?

A

Assessing kidney function.

27
Q

A diabetic patient has high urea and creatinine. What is the likely diagnosis?

A

Diabetic nephropathy.

28
Q

Why is urea not a perfect marker of kidney function?

A

It is influenced by diet, hydration, and catabolic states.

29
Q

What test is better than urea for kidney function assessment?

A

Serum creatinine and eGFR (estimated glomerular filtration rate).

30
Q

How does liver failure affect urea levels?

A

Decreases urea production (hypoazotemia).

31
Q

What is creatinine?

A

A waste product of muscle metabolism (from creatine breakdown).

32
Q

How is creatinine excreted?

A

Filtered by the kidneys and excreted in urine.

33
Q

What is the most common sample type for creatinine measurement?

A

Serum or heparinized plasma.

34
Q

What is the gold standard method for creatinine measurement?

A

IDMS (Isotope Dilution Mass Spectrometry).

35
Q

What is the normal range of creatinine in blood?

A

Men: 6–12 mg/L, Women: 5–10 mg/L, Children: 4–9 mg/L.

36
Q

What is the normal range of creatinine in urine?

A

1–2 g/day.

37
Q

What are the causes of hypercreatininemia?

A

Acute & chronic renal failure, dehydration, muscle disease.

38
Q

A 60-year-old diabetic has high creatinine, high urea, and proteinuria. What is the likely diagnosis?

A

Chronic kidney disease (CKD).

39
Q

How is eGFR calculated?

A

Using formulas like MDRD, CKD-EPI, or Cockcroft-Gault.

40
Q

What is the difference between creatine and creatinine?

A

Creatine stores energy in muscles; creatinine is its waste product.

41
Q

What are the three main types of jaundice?

A

Pre-hepatic, Hepatic, Post-hepatic.

42
Q

What is the normal range of total bilirubin in adults?

A

6 – 10 mg/L.

43
Q

What condition causes isolated unconjugated hyperbilirubinemia?

A

Gilbert’s syndrome.

44
Q

What enzyme deficiency causes Crigler-Najjar syndrome?

A

Glucuronosyltransferase deficiency.

45
Q

What type of jaundice is seen in biliary obstruction?

A

Post-hepatic (cholestatic) jaundice.

46
Q

What is the main cause of pre-hepatic jaundice?

A

Excessive hemolysis (e.g., hemolytic anemia, sickle cell disease).

47
Q

What is the enzyme responsible for bilirubin conjugation in the liver?

A

UDP-glucuronosyltransferase (UGT).

48
Q

How does intrahepatic cholestasis affect bilirubin levels?

A

Both conjugated and unconjugated bilirubin increase.

49
Q

A patient has pale stools and dark urine. What type of jaundice is most likely?

A

Post-hepatic (obstructive) jaundice due to bile duct obstruction.

50
Q

Why should bilirubin samples be protected from light?

A

Light degrades bilirubin, leading to falsely low results.

51
Q

What type of jaundice occurs in newborns due to immature liver enzymes?

A

Physiological jaundice.

52
Q

What condition causes conjugated hyperbilirubinemia with black liver pigmentation?

A

Dubin-Johnson syndrome.

53
Q

What is the most common method for measuring bilirubin?

A

Diazo reaction (Van den Bergh method).

54
Q

A patient with liver failure, ascites, and jaundice has high conjugated bilirubin. What is the diagnosis?

A

Hepatic jaundice due to liver cirrhosis.

55
Q

What genetic disorder leads to isolated unconjugated hyperbilirubinemia with no hemolysis?

A

Gilbert’s syndrome.