Kwashiorkor, Acid-Base Disorders, Hypothyroidism, Nephrotic Syndrome Case Studies

Kwashiorkor

Types of PEM:

1. Kwashiorkor– Protein malnutrition
2. Marasmus– Deficiency of calorie intake.
3. Marasmic kwashiorkor– Marked protein and calorie insufficiency.

Read And Learn More: Biochemistry Clinical Case Studies With Answers

Kwashiorkor Symptoms and signs

1. Sparse hair.
2. Moon face.
3. Scaly skin.
4. Distended abdomen (ascites).
5. Swollen ankle (edema).

Marasmus’s Symptoms and signs

1. Normal hair.
2. Old person’s face.
3. Wrinkled skin.
4. Severe muscle wasting.

Case 1

A 4 years old girl was brought to the hospital with a complaint of failure to thrive and generalized swelling all over the body. She had a history of repeated respiratory infections and intermittent diarrhea. She belongs to a poor family and resides in a slum area.

• Diagnosis– Kwashiorkor (protein energy malnutrition).
• Cause– Low protein in the diet.
• Treatment– high protein diet.

PEM– Range of conditions arising from lack of calories and protein in a child below 5 years of age.

Case 2

A 3 years old child from a poor illiterate family reported edema, discoloration of hair and skin, anemia, and diarrhea. His serum albumin and K+ were low.

Question 1. What is the cause of edema?
Answer:

Albumin level decreases in kwashiorkor hence oncotic pressure decreases. The oncotic pressure is in direct opposition to the hydrostatic pressure and tends to draw the water back into capillaries by osmosis. Hence in albumin deficiency, fluid accumulates in the tissues and causes edema.

Question 2. Suggest a line of treatment and preventive measures.
Answer:

1. Supportive therapy– ORS for diarrhea.
2. High protein diet– Eggs, meat, fish, pulses, mushrooms, etc.
3. Vitamin and mineral supplementation.
4. Vaccination for the age.

Case 3

A 4-year-old child is brought to the hospital with the problem of poor growth, edema, and distended abdomen, and lab data shows hypoalbuminemia.

Question 1. What is the cause of edema and abdominal distention?
Answer:

1. Albumin level decreases in kwashiorkor hence oncotic pressure decreases. The oncotic pressure is in direct opposition to the hydrostatic pressure and tends to draw the water back into capillaries by osmosis. Hence in albumin deficiency, fluid accumulates in the tissues and causes edema.
2. The lack of albumin also causes an osmotic imbalance in the gastrointestinal system causing retention of fluids. The lymphatic system is responsible for fluid recovery in the gut. In Kwashiorkor, fluid recovery is compromised due to hypoalbuminemia which leads to characteristic distention of the abdomen.
3. Hepatomegaly is also responsible for the distention of the abdomen.

Question 2. What are the lab investigations to be done in this case?
Answer:

1. Serum albumin– decreases (< 2 gm/dl).
2. Serum total protein– Decreases.
3. Albumin/Globulin ratio altered.
4. Serum cortisol– Decreases.

Case 4

An infant was brought to the hospital with a chief complaint of failure to thrive. He had a history of repeated respiratory infections and diarrhea. On examination, he looks like an old man with a shrunken abdomen and dry atrophic skin. His muscles were weak and atrophic.

Question  1. What is your probable diagnosis?
Answer: Marasmus.

Acid-Base Disorders

Case 1

A 45 years old lady was admitted to the medicine ward with complaints of chronic obstructive airway disease for years. On examination, she was found cyanosed and breathless. Blood investigations revealed the following results: Blood pH = below normal, pCO2 = elevated markedly, and bicarbonate = elevated markedly.

Question 1. Name the acid-base disorder.
Answer: Respiratory acidosis.

Question 2. What could be the reason for elevated bicarbonate?
Answer:

• It is a compensatory mechanism for respiratory acidosis.
• The kidney conserves bicarbonate and excretes H+ ions to maintain the ratio of bicarbonate: carbonic acid, 20:1.
• This leads to elevated bicarbonate levels.

Question 3. What could be the cause of elevated pCO2?
Answer:

Because of obstructive airway disease, there is increased pCO2 concentration due to hypoventilation. Retention of pCO2 causes an increase in pCO2.

Acid-Base Disorders

1. Metabolic Acidosis.
2. Metabolic Alkalosis.
3. Respiratory Acidosis.
4. Respiratory Alkalosis

Compensatory Mechanism

1. If the underlying problem is metabolic, hyperventilation or hypoventilation can help: respiratory compensation.
2. If the problem is respiratory, renal mechanisms can bring about a metabolic compensation

Hypothyroidism (Myxedema)

Case 1

A 38 years old woman with an enlarged thyroid gland was referred to the laboratory for thyroid function tests. On investigation, T3 and T4 values were found to be decreased and the value of TSH was found to be increased.

Question 1. Name the condition.
Answer: Primary hypothyroidism.

Question 2. Comment on serum cholesterol concentration in this condition.
Answer:

Cholesterol level increases in hypothyroidism (more than 200 mg/dl).

Question 3. Name the diseases associated with this condition in children and adults.
Answer:

• Myxedema in adults.
• Symptoms– lethargy, cold intolerance, slow heart rate, weight gain, dry skin, sluggishness. Cretinism in children.
• Symptoms– Mental retardation and growth retardation.

Question 4. Name the commonest source of Iodine in the diet. Salt fortified with iodine.
Answer:

Laboratory Findings in Hyperthyroidism

Symptoms in Graves’ disease– mnemonic to remember.

Goitre

Graves’ disease, edema of the gland (enlargement), irritability, tremors, restlessness, and excitability.

Case 2

A 26-year-old man walked into the OPD with heavy sweating, loss of weight, and palpitations. His thyroid gland was enlarged and he was diagnosed with hyperthyroidism.

Question 1. Which thyroid function tests were carried out to reach this conclusion?
Answer: Serum T_3,T_4,TSH,Free T₃ Free T_4.

Question 2. What are the reasons for the enlarged thyroid gland and loss of weight?
Answer:

Overstimulation of the thyroid by increased T3 and T4 causes thyroid tissue to swell and enlarge. An increase in thyroid hormones increases basal metabolic rate (BMR) and causes loss of weight.

Question 3. Why does the patient complain constantly of feeling hot?
Answer:

An increase in thyroid hormones increases metabolism, which is responsible for the generation of energy, this leads to an increase in body temperature and heat intolerance.

Case 3

A 12-year-old female came to OPD with chief complaints of exophthalmos, weight loss, and heat intolerance. Family history was suggestive of thyroid-related disease in grandparents. On lab investigation, serum T3 and T4 levels were elevated and TSH levels were low.

Question 1. What is your probable diagnosis?
Answer: Hyperthyroidism (Graves’ disease).

Nephrotic Syndrome

Nephrotic Syndrome

Proteinuria, Albuminuria, and Hyperlipidemia Cause– derangement of the glomerular capillary wall increases the permeability of plasma proteins. The endothelium, GBM, and visceral epithelial cells act as a size and charge barrier to albumin. The negatively charged GBM repels the negatively charged LMW albumin in normal conditions. In glomerular injury this charge gets lost hence albumin appears in urine. Because of hypoproteinemia, stimulation of protein synthesis occurs which leads to a compensatory increase in lipoprotein levels.

Case 1

A 55 years old hypertensive male comes with complaints of dry and painful eyes for a few weeks. On examination, he was afebrile, BP was 150/98 mm of Hg. Facial and lower limb edema was present. Laboratory findings are as follows: fasting blood sugar– 280 mg/dl, urine sugar ++, urine proteins +++, serum albumin– 2 gm/dl, serum cholesterol– 290 mg/dl, serum creatinine– 2.5 mg/dl, blood urea– 130 mg/dl.

Question 1. What is the probable diagnosis?
Answer: Nephrotic syndrome.

Question 2. What are the causes of disease?
Answer:

• Diabetes.
• Hypertension.

Question 3. What will be the line of treatment?
Answer:

• Treatment of cause.
• Steroid therapy.
• Reduce salt in the diet.

Electrophoretic Pattern

1. A decrease in albumin concentration and a prominent increase in alpha-2 globulins is observed.
2. Albumin concentration decreases because of heavy proteinuria.
3. Alpha 2 fraction was not filtered because of its large size, leading to accumulation and a prominent band in electrophoresis.

Case 2

A 30-year-old female came to OPD with complaints of swollen legs and hematuria for 2 weeks. She has a history of skin rash 3 weeks ago. On examination periorbital edema- present, edema feet –Present, BP– 150/96 mmHg. Laboratory investigation showed RBCs in urine, Serum urea– 98 mg/dl, and creatinine– 2.1 mg/dl.

Question 1. What is your probable diagnosis?
Answer: Glomerulonephritis.

Mitochondrial Diseases

These are the group of mitochondrial disorders caused by a mutation in mitochondrial or nuclear DNA affecting mitochondrial functions.

• Disorders caused by mutation in mitochondrial DNA are transmitted by maternal inheritance.
• Symptoms– Poor growth, developmental delay, muscle weakness, etc.

Examples

1. Leber’s hereditary optic neuropathy (LHON).
2. NARP, Leigh’s disease- neuropathy, ataxia, retinitis pigmentosa.
3. MELAS– mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes.
4. MERRF– myoclonic epilepsy and ragged red fiber in muscles.
5. Chronic progressive external ophthalmoplegia (PEO).
6. Pearson syndrome– pancreatic insufficiency, pancytopenia, lactic acidosis.
7. Kearn-Sayre syndrome (KSS)– external ophthalmoplegia, heart block, retinal pigmentosa, ataxia.
8. Deafness.

Mitochondrial Diseases Diagnosis: Muscle biopsy, MRI-Scan, USG, A-Scan, etc.

Mitochondrial Diseases Treatment: Supportive care and behavioral therapy.