Clinical cases for Home assignment

Case 1

A 20-year-old came to the emergency room with severe pain in his right side of
abdomen and back. Examination and evaluation indicated a kidney stone and
increased excretion of cystine, arginine, and lysine in the urine and diagnose as a
case of cystinuria.

Q.1 What is the cause of cystinuria?

Q.2 Why is there formation of kidney stone?
Q.3 How is the condition to be treated?
Q.4 Name the biosynthetic precursor of cysteine
Q.5 What is Garrod’s tetrad?

Case 2
A 45 year old male patient is having complain of nausea, vomiting and fever since 8-10
days. She also has complained of pain in chest and abdomen, decrease urine output and increase
frequency of urination. On examination, patient has high blood pressure and edema over lower
limbs was noted. Physician diagnosed him as chronic renal failure.

Following are biochemistry lab reports

PARAMETER REFERENCE RANGE

Hb 8.6 gm/dl 13.5-17.5 gm/dl
S.Creatinine 10.1 mg/dl 0.5-1.5 mg/dl
S.Urea 280 mg/dl 10-40 mg/dl
S.Calcium 7.8 mg/dl 8.7-10.5 mg/dl
S.Phosphate 8.4 mg/dl 2.5-4.5 mg/dl
S.Sodium 124.9 mEq/L 135-155 mEq/L
S.Potassium 4.5 mEq/L 3.5-5.5 mEq/L

Q.1What is difference in creatine, creatinine & creatinine kinase?

Q.2 What is GFR?
Q.3 What is the best method for assessing GFR?
Q.4 Suggest the type of renal failure? And write its causes.
Q.5What is the advantage of creatinine test?
Case 3
A 5-month-old female patient was admitted to hospital with a complaint of vomiting and a
failure to gain weight. The mother also reported that the child would Oscillate between periods
of irritability and lethargy: biochemical investigations patient indicated markedly increased
concentration of plasma ammonia (550 g/dL).

Q.1 Name the probable disorder.

Q.2 What is the cause of the disorder?
Q.3 Name the transport form of ammonia.
Q.4 What will be the nutritional therapy of the patient?
Q.5 Ammonia is toxic to brain. Justify.

Case 4
A53 year old house wife attended medical OPD with the complaints of constipation,
weakness and lethargy for the past 6-8 months. She also said that she got tired easily and had aches
and pains all over her body. She felt colder than others and had also gained weight in the last few
months. On examination, she looked obese and dull and her skin was rather dry and coarse. There
was puffiness of face. Pulse was 64/minute and regular and blood pressure 112/78 mm Hg. Thyroid
was palpable with firm consistency but not enlarged.
The physician suspected thyroid abnormality and ordered relevant investigations. The results
were as under:
• TSH = 20mIU/L (n = 0.34 – 4.37mIU/L)
• FT4 = 4.0 pmol/L (n = 1.03 - 21.9 pmol/L)
• Anti TPO antibody = ++++ (normal traces)

Q.1 What is the diagnosis and why?

Q.2 What is the reason behind weight gain, cold intolerance, lethargy, body aches and pain?
Q.3 Out of T3 and T4, indicate which is more active and why?
Q.4 What is euthyroid goiter?
Q.5 What are primary and secondary hypothyroidism? How are they distinguished?