Cushing’s disease, Sickle Cell Anaemia, Diabetic coma,Multiple Sclerosis, COPD

Question 1 

The patient is suffering from Cushing’s disease. 

The clinical signs manifested i.e. Round ‘moon’ face, obesity, muscle weakness, slender limbs are classical signs and symptoms of elevated glucocorticoid levels, which predisposes to Cushing’s disease. 

Addison’s Disease. 

A condition of adrenocortical insufficiency, usually arising out of dysfunctioning or complete destruction of the adrenal cortex. 

Often characterised by hyperpigmentation of the skin and vitiligo. The skin hyperpigmentation is caused by the overstimulation of the melanocytes by ACTH to produce melanin. 

Progressive weight loss, fatigue and loss of appetite are also manifestations of the condition. 

Plasma ACTH levels might be high, Cortisol levels are low (Batterle et al. 2016). 

Pheochromocytoma: 

A tumour of the chromaffin cells, that produces elevated catecholamine levels. 

Clinical manifestations of abnormal catecholamine secretion are headaches, palpitations, weight loss and cardiac arrests in some cases. 

Plasma ACTH and cortisol levels are normal, but plasma metanephrine and urinary catecholamine levels are elevated. 

Large left suprarenal mass is evident on MRI scanning. 

Hypoaldosteronism: 

Characterized by decreased levels of aldosterone. Cortisol and ACTH levels may be normal. Patients usually manifest with persistent hyperkalaemia and in some cases hyperchloremic metabolic acidosis. 

Hyperthyroidism: 

A condition resulting from the overproduction of the hormone thyroxine by the thyroid glands. Caused by overactivity of the thyroid gland due to pathologies e.g. Grave’s disease and adenomas. 

Usually manifested clinically by sudden weight loss, arrhythmias and tachycardia, increased appetite, irritability and nervousness, fatigue and muscle weakness. 

Plasma T-3 and T-4 levels are usually elevated, while Cortisol and ACTH levels are normal. 

The patient’s Condition i.e Cushing’s syndrome was caused by malignancy of the pituitary gland. The MRI scan showed erosion of the sella turcica, a characteristic of pituitary gland neoplasm (Ali & Kovacheva, 2015). 

Question 2 

Sickle Cell Anaemia 

Sickle Cell occurs from a genetic substation in the Sixth codon of the Haemoglobin Beta chain gene. Thymine replaces adenine, changing the coding sequence from GAG to GTG and consequently, the synthesis of Valine instead of Glutamate. The resulting Hb chain synthesized has sickling properties, i.e. tendency to form polymers under low oxygen conditions and changes in molecular stability (Steinberg, 2016). 

SCD is commonly characterized by vaso-occlusive crisis. This usually is pain arising out of ischemic injury to organs following insufficient oxygen circulation. Leucocytosis and retarded growth in children are also clinical manifestations. 

Allogenic bone marrow transplantation, transfusion therapy and administration of analgesics are treatment interventions used to manage sickle cell anaemia. 

Thalassemia 

Alpha thalassemia: Results from disorder on the alpha globulin genes on chromosome 16, which could be due to the lack of synthesis of some alpha globulin genes. Consequently, 1 or more of the 4 alpha globulins fail to be expressed on the chromosome. 

The condition manifests clinically as Haemoglobin H disease. Signs and symptoms may include hepatosplenomegaly, gallstones, osteopenia and fractures and leg ulcers. 

Transfusion therapy and iron or folic supplementation are treatment measures taken to manage alpha thalassemia (Harewood & Bhimji, 2017). 

Beta thalassemia: Results from a disorder on the beta globulin genes on chromosome 11. Deficiency in the synthesis in one or more of the beta globulin proteins causes defects in the Hb chain. 

Clinical manifestations are maxillary enlargement ‘chipmunk face’, jaundice and anaemia. 

Treatment considerations are stem cell transplant, iron chelation and long-term transfusion therapy. 

Question 3 

Diabetic coma resulting from acute diabetes mellitus. 

Blood glucose was extremely high (800 mg/dL). Normal random blood glucose is 200 mg/dL. 

The urine analysis was positive for glucose and ketones. The patient also had metabolic ketoacidosis Blood bicarbonate was below the normal range of 18 – 22 mMol/L. 

Insulin and bicarbonate were administered intravenously, lowering the blood glucose and pH levels and the patient regained consciousness shortly. 

Question 4 

Patient’s preliminary diagnosis is Multiple Sclerosis. 

The patient was initially diagnosed with optic neuritis, and an MRI scan revealed degenerative lesions on the brain white matter, which are the manifestations of multiple sclerosis. The lumbar puncture test results further affirm the diagnosis. The CSF IgG to protein ratio is elevated. Normal CSF IgG/albumin value is 0.00 – 0.21. Increased IgG levels in this condition is due to the CNS overproduction of IgG. The other CSF parameters are within normal ranges, thereby ruling out other CNS conditions. 

Pressure: 150 mm/H 2 O rules out intracranial shock, spinal cord tumour or diabetic coma. Glucose: 50 mg/dL rule out conditions of imbalanced blood sugars. Protein: 50 mg/dL rule out polyuritis, rapid CSF production or infections and inflammations. Cells: no RBCs; WBC count of 6/mm 3 rule out meningitis, chronic infections, abscess and lumbar trauma that might result in bleeding into the CSF. Colour: clear, colourless is normal CSF colour. Rules out infections e.g. meningitis that might result in leukocytosis or high protein activity that might result in turbidity of CSF (Lublin et al. 2014). 

Question 5 

The patient is likely to be suffering from Chronic Obstructive Pulmonary Disease (COPD) or emphysema. The shortness of breath is as a result of airflow limitation. Smoking causes the destruction of the lung tissue, manifested as fibrotic changes on a chest X-ray. The elastic recoil of the lungs and other airway tissues is lost, resulting in forced expirations to compensate for the normal breathing mechanisms (Han et al. 2015). 

Blood cell count parameters are normal as the hematopoietic activity is not interfered with. Arterial Blood Gas analysis, however, serves as the primary diagnosis parameters. The partial pressure of carbon dioxide is elevated above the normal range (35 -45 mm Hg) while the partial pressure of oxygen is below the normal range (75 – 100 mm Hg). Due to the irreversible airflow limitation, the less air is inhaled while more is retained in the lungs, resulting in the O 2 /CO 2 imbalance. Respiratory acidosis resulting from increased CO 2 causes a compensatory alkalosis, in which high levels of bicarbonate are produced in a negative feedback mechanism increasing bicarbonate concentrations in blood. 

Question 6 

Patient’s preliminary diagnosis is cystic fibrosis. 

Cystic fibrosis is a genetic condition that affects both the respiratory and digestive systems. Genetic defects result in the production of viscous stickier mucous and increased salt concentrations in sweat. The viscous mucous plugs into walls of respiratory tubes, causing respiratory complications due to the clogged airways. This is manifested by the thickened bronchial walls on the chest X-ray. 

In the digestive system, the viscous mucous secreted blocks the pancreatic ducts that secrete digestive enzymes. Digestion is therefore hampered, causing weight loss or lack of weight gain, and passing of lipids in faces due to incomplete digestion (Cutting, 2015). 

Question 7 

Emphysema is a respiratory condition characterized by enlarged lungs and alveoli, and ultimate destruction of the alveolar walls and fibrosis, resulting in reduced alveolar compliance. Cigarette smoking is the leading predisposing factor of emphysema. Occupational and environmental of smokes and biomass fuel are also risk factors. The noxious ingredients of smoke are taken up by the respiratory defence mechanism, eliciting an inflammatory counter immune response. Neutrophil chemotactic factors and proteolytic enzymes released by macrophages in the immune response ultimately cause the destruction of the respiratory epithelium (Goldklang & Stockley, 2016). 

Shortness of breath, changing of fingernails to grey o blue on exertion and wheezing are clinical manifestations of emphysema. 

Reduced alveolar compliance caused the retention of CO 2 , increasing the partial CO 2 pressure. The excess CO 2 instigates the rise in blood acid levels. Chronic respiratory acidosis and the high pH levels cause a counterbalance mechanism of metabolic alkalosis, thereby elevating the bicarbonate levels. 

A urinalysis would indicate pH less than 7 (Goldklang & Stockley, 2016). 

Question 8 

When a patient experiences cardiac arrest, the circulatory and respiratory activities are reduced or stop momentarily. The decline in respiratory activity causes an increase in the arterial partial CO 2 pressure and decline in O 2 pressure. This leads to increase in the H + concentration thereby increasing the blood pH, resulting in acidosis (Jamme et al. 2018). 

Sodium bicarbonate acts as an alkalizing agent, thereby increasing the HCO 3 - concentrations in both plasma and urine. This serves to raise the pH, reversing the acidosis. 

Administration of sodium bicarbonate results in an excess blood salt concentration, causing an electrolyte imbalance and increased water loss from cells. This can be corrected by rehydration therapy to restore the osmotic and osmolality balance of the cells and plasma. 

Question 9 

Urea, being a small molecule diffuses through the dialysis membrane. A diffusion gradient must, therefore, exist between the dialysis fluid and the plasma blood. A maximum diffusion gradient is achieved by ensuring that the dialysis fluid has no urea in it. However, the dialysis fluid should contain glucose and bicarbonate ions similar in concentration to that in the plasma blood. The equal concentration of irons and glucose ensures that osmotic pressure is in equilibrium, thereby preventing movement of water across the membrane (Yohanna et al. 2015). 

Question 10 

Initial diagnosis is preeclampsia. 

Clinical characteristics are high protein in the urine, which lead to swelling of face and limbs due to retained water in cells (edema) and high blood pressure (Sibai & Kupfermic, 2005). 

Question 11 

Female patient has a normal hormonal cycle. The menstrual cycle comprises of the ovarian and the uterine cycles. The ovarian cycle involves activities that take place in the ovaries, i.e. the proliferation, maturation and release of the ova. This cycle has three phases: Follicular, ovulation (mid-cycle) and the luteal phase. In the Follicular phase, FSH released by the anterior pituitary stimulates the proliferation of ovarian follicles. LH release is suppressed by estradiol. In the mid-cycle, estrogen stimulates the release of LH from the anterior pituitary, stimulating ovulation. In the luteal phase, the ovum transforms into the corpus luteum and starts releasing progesterone. FSH and LH levels decline, and consequently the progesterone levels fall due to atrophy of the corpus luteum. Menstruation then follows (Hall, 2019). 

A male patient has normal semen analysis parameters, but the sperm count is low (Baker & Sabanegh, 2015). 

Question 12 

Most likely diagnoses are prostate cancer and urinary tract infection (UTI). 

Prostate cancer results in elevated prostate-specific antigen above normal values (more than 4 ng/mL). It is also characterized by an enlarged prostate mass (Heidenrich et al. 2014). UTI is likely to be present due to the presence of bacteria in the urine culture. 

Prostate cancer is the formation of a ‘rock hard’ mass on the prostate glands. This mass constricts the urethra below the bladder. This makes passage of urine difficult, resulting in painful urination 

References 

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Baker, K., Li, J., & Sabanegh, E. (2015). Analysis of semen parameters in male referrals: impact of reference limits, stratification by fertility categories, predictors of change, and comparison of normal semen parameters in subfertile couples.  Fertility and Sterility ,  103 (1), 59-65. 

Betterle, C., Garelli, S., Presotto, F., & Furmaniak, J. (2016). From Appearance of Adrenal Autoantibodies to Clinical Symptoms of Addison's Disease: Natural History. In  Cortisol Excess and Insufficiency  (Vol. 46, pp. 133-145). Karger Publishers. 

Cutting, G. R. (2015). Cystic fibrosis genetics: from molecular understanding to clinical application.  Nature Reviews Genetics ,  16 (1), 45. 

Goldklang, M., & Stockley, R. (2016). Pathophysiology of Emphysema and Implications.  Chronic Obstructive Pulmonary Diseases ,  3 (1), 454. 

Hall, J. E. (2019). Neuroendocrine control of the menstrual cycle. In  Yen and Jaffe's Reproductive Endocrinology (Eighth Edition)  (pp. 149-166). 

Han, M. K., Dransfield, M. T., Martinez, F. J., Stoller, J. K., & Hollingsworth, H. (2015). Chronic obstructive pulmonary disease: definition, clinical manifestations, diagnosis, and staging.  UpToDate. Retrieved from https://www-uptodatecom. ezproxy1. library. arizona. edu/contents/chronic-obstructive-pulmonary-disease definition-clinical-manifestations-diagnosis-and staging , 1-150. 

Harewood, J., & Bhimji, S. S. (2017). Alpha Thalassemia (Hemoglobin H Disease). 

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Sibai, B., Dekker, G., & Kupferminc, M. (2005). Pre-eclampsia.  The Lancet ,  365 (9461), 785-799. 

Steinberg, M. H. (2016). Overview of sickle cell anemia pathophysiology. In  Sickle Cell Anemia  (pp. 49-73). Springer, Cham. 

Sterns, R. H. (2015). Disorders of plasma sodium—causes, consequences, and correction.  New England Journal of Medicine ,  372 (1), 55-65. 

Tisch, R., & McDevitt, H. (1996). Insulin-dependent diabetes mellitus.  Cell ,  85 (3), 291-297. 

Wians, F., & Porter, R. S. K. J. (2015). Blood tests: normal values.  Merck Manual. Kenilworth, NJ: Merck Sharp & Dohme Corp . 

Yohanna, S., Alkatheeri, A. M., Brimble, S. K., McCormick, B., Iansavitchous, A., Blake, P. G., & Jain, A. K. (2015). Effect of Neutral-pH, Low–Glucose Degradation Product Peritoneal Dialysis Solutions on Residual Renal Function, Urine Volume, and Ultrafiltration: A Systematic Review and Meta-Analysis.  Clinical Journal of the American Society of Nephrology ,  10 (8), 1380-1388.