In the given case Study, Mr. Smith, a 33-year-old male individual presented to hospital with complaints of generalized swelling (oedma), particularl
Introduction
In the given case Study, Mr. Smith, a 33-year-old male individual presented to hospital with complaints of generalized swelling (oedma), particularly prominent around his eyes (peri-orbital) and ankles (peripheral) along with noticing a foamy appearance in toilet basin after urinating. He has alsomentionedfeelingfatigued and gainedweight over the past month. Mr. Smithdoesnothaveany other significantmedical history; however, these symptoms suggest that Mr. Smith is facing a health concern that requires the investigation of his laboratory findings.
Upon clinical examination, the patients blood pressure was 135/85 mmHg which was higher than Normal. Moreover, respiratory rate was 18/min, pulse was 80/min and body temperature was 37C (98.6F) and these all were normal.
Description of Case Study
Blood testing demonstrates complete blood count (CBC) parameters including hemoglobin, MCV (measure the average size of RBC and diagnose different types of anaemia while RDW indicates anisocytosis, (Rayes et al., 2019), RBCs, WBCs (Neutrophil, lymphocyte, monocyte, eosinophils and Basophil counts) and platelets all in the normal range. In addition, results for fasting blood glucose level and serum electrolytes tests (Sodium, potassium, Chloride, Phosphorus and total calcium) were within normal range.
Furthermore, the blood urea level is elevated (9.5 mmol/L) and a moderate increase in serum creatinine levels (149 mol/L). The kidney eliminates around 85% of urea formed in the liver from protein breakdown. The blood urea level increases in acute and chronic renal failure and conditions like upper GI bleeding, high protein diets and dehydration (Gounden et al., 2023). The elevated serum creatinine levels suggest impaired kidney function or a significant decrease in GFR or urinary obstruction. The low level of protein and albumin in blood indicates hypoproteinemia (hypoalbuminemia) suggesting malnutrition, kidney disease, liver disease or chronic inflammation and leading to fluid retention as well as weight gain (Mangialardi et al., 2000). Moreover, increased levels of cholesterol and triglycerides indicate hyperlipidemia which contributes to the development of atherosclerosis (plaque build-up in arteries) causing CVD or stroke (Karr, 2017).
Urinalysis reveals a yellow, hazy appearance, a specific gravity ( USG) of 1.01, acidic pH (normal) and proteinuria which means the leaking of proteins in urine that could be one of the reasons for the hazy appearance. There is no glucose, ketone, urobilinogen, or bilirubin in urine. Microscopic examination shows the presence of WBC, RBC and epithelial cells within the normal range in urine. Also, there were no crystals or parasites present in the urine. The Specific gravity (1.003-1.030) reflects the concentrating ability of the kidney and the hydration status of the patient but in patients with intrinsic renal insufficiency, the urine specific gravity (USG) gets fixed at 1.01, reflecting the specific gravity of the glomerular filtrate (Simerville et al., 2005). However, there were fatty casts seen and these casts have associations with conditions like nephrotic syndrome, kidney diseases, diabetes, hypothyroidism and acute tubular necrosis (Queremel Milani & Jialal, 2023).
Serum protein electrophoresis (SPE) is a technique used to separate proteins based on their net charge, shape and size of different proteins (Tuazon et al., 2023). The given SPE shows an increased level of alpha-1 and gamma globulin suggesting polyclonal gammopathy which is hypergammaglobulinemia an increase in different immunoglobulins. It is associated with inflammatory, infectious or reactive conditions such as liver disease, infections like human immunodeficiency virus or autoimmune conditions (Zhao et al., 2020).
In addition, the patient's 24-hour urine sample shows massive proteinuria which is 13.4 g/24-hour. The justification for looking at the 24-hour urine protein test is that it's the gold standard approach, more sensitive, and tracks the development of kidney disease. It measures the amount of creatinine cleared and also proteins, minerals, hormones and other chemical compounds (Corder & Leslie, 2019). The other tests are spot urine protein-creatinine ratio (PCR) and an albumin-creatinine ratio (UACR) to quantify the proteinuria using the first void sample. This test has quick results but does not provide the underlying cause of the disease (RACGP, 2020).
Discussion
From the above it is confirmed that a patient has significant proteinuria, specifically albuminuria (the presence of albumin in urine) and is always in a pathological condition. Normally, plasma contains about 50-60% albumins and 40% globulins (including 10-20% immunoglobulin, IgG) (Leeman et al., 2018).
The kidney's structural and functional unit is the nephron. The head of the nephrons consists of a glomerulus, which forms a filtration barrier composed of specialized cells: fenestrated endothelium, a glomerular basement membrane (GBM) with a negative charge, and podocytes (glomerular epithelium) (Hashmi & Pandey, 2020). The Podocytes have foot-like extensions that wrap around the capillaries, forming a unique mesh-like structure. Albumin, being negatively charged, does not pass into the urine because it repels the glomerular basement membrane (GBM), and also slit diaphragm acts as a size-selective barrier (Heyman et al., 2022).
In this case study, it appears that inflammation or internal damage to the glomerular filtration barrier occurred due to infection, immune cells, antibodies, etc., which has allowed proteins to pass into the urine. This damage alters the structure of the filtration barrier, including podocyte dysfunction, loss of the GBM's negative charge, and chronic inflammation leading to proteinuria (hypoproteinemia). Some free fatty acids accumulate in tubular cells forming oval fat bodies causing injury and leading to inflammation (tubular interstitial disease) (Heyman et al., 2022).
Subsequently, decreased albumin (hypoalbuminemia) in the body prompts the liver to produce more protein to compensate, but this also results in a decrease in the enzyme Lipoprotein lipase which is responsible for the breakdown of lipoprotein (Risti et al., 2023). Thus, less enzyme results in less breakdown of lipoprotein leading to hyperlipidemia as observed in our case study. Furthermore, hypoalbuminemia reduces oncotic pressure, causing the movement of water and electrolytes into the interstitium, resulting in oedema (periorbital or peripheral swelling) in the patient (Tapia & Bashir, 2022). This movement of water decreases volume in the vascular compartment causing hypovolemia, thus reducing blood volume in circulation (venous blood returning to the heart) and resulting in decreased glomerular filtration rate (GFR). The Renin-Angiotensin-Aldosterone System (RAAS) becomes active, increasing blood pressure by retaining sodium and water in the kidneys, which further contributes to oedema (Trerattanavong & Chen, 2024).
(https://www.researchgate.net/publication/329705691_Nephrotic_syndrome_case_report)
Therefore, this explains how inflammation/damage to the glomerular filtration barrier results in significant changes in the patient's body thus leading to weight gain, tiredness, frothy urine, hyperlipidemia, hypoproteinemia and oedema.
Conclusion
Since the patient has no significant medical history of any disease but the presence of symptoms of oedema, hyperlipidemia, hypoalbuminemia, and proteinuria suggests the provisional diagnosis of the patient is Nephrotic syndrome (NS) (NIDDK, 2018). In this syndrome, protein loss is 3 grams or more in 24 hours of urine and in a given case it is massive proteinuria (13.g/24hours) (Tapia & Bashir, 2022). The main causes of nephrotic syndrome (NS) include primary glomerular diseases such as Focal Segmental Glomerulosclerosis (FSGS), Membranous Nephropathy, Minimal Change Disease, and Membranoproliferative Glomerulonephritis. Secondary causes can arise from congenital conditions, infections, autoimmune diseases like systemic lupus erythematosus (SLE), cancers (neoplasia), amyloidosis, or certain medications (vaccines) such as non-steroidal anti-inflammatory drugs (NSAIDs) (Campbell & Thurman, 2022).
Further tests to confirm the diagnosis can include imaging studies (ultrasonography, CT-scan), Renal biopsy ( to see macro-micro changes in NS) and laboratory tests includes C-reactive protein (inflammation biomarker), serum and immunoglobulins to check for autoimmune diseases, Liver function test, test for hepatitis B/C and HIV as these are also sub causes of NS (Tapia & Bashir, 2022) (Ofori et al., 2023).