Case 1: A premature infant develops jaundice.

a. What is the most probable cause of the infant’s jaundice?

Answer: Neonatal jaundice due to immature liver function. The infant's liver is not mature enough to efficiently process
bilirubin, leading to unconjugated hyperbilirubinemia.
b. Could these same urine findings be associated with an adult? Explain your answer.
Answer: Yes, but due to different causes. In adults, dark yellow urine with bilirubin could indicate liver disease, such
as hepatitis or cirrhosis. The presence of needle-shaped crystals suggests bilirubin crystallization, which may occur in
severe liver dysfunction.
c. What kinds of crystals are present? Name another type of crystal with a spherical shape that is associated with this
condition.
Answer: Needle-shaped bilirubin crystals. Spherical crystal alternative: Tyrosine crystals, which can form in severe
liver disease.
d. When blood is drawn from this infant, what precaution should be taken to ensure the integrity of the specimen?
Answer: Protect the blood sample from light because bilirubin is light-sensitive and can degrade when exposed to
light, leading to falsely low levels.

Case 2: A newborn develops severe vomiting and symptoms of metabolic acidosis.

a. If the urine had an odor of “sweaty feet,” what metabolic disorder would be suspected?
Answer: Isovaleric acidemia (caused by a deficiency of isovaleryl-CoA dehydrogenase).
b. If the newborn was producing dark brown urine with a sweet odor, what disorder would be suspected?
Answer: Maple Syrup Urine Disease (MSUD). This disorder causes the accumulation of branched-chain amino acids
(leucine, isoleucine, and valine), leading to urine with a sweet, maple syrup-like odor.
c. Would an MS/MS screen be helpful for the diagnosis?
Answer: Yes. Tandem mass spectrometry (MS/MS) can detect elevated levels of leucine, isoleucine, and valine, which
are diagnostic of MSUD.

Case 3: A 13-year-old boy is awakened with severe back and abdominal pain.
a. What condition does the patient’s symptoms represent?
Answer: Cystinuria (a genetic disorder leading to recurrent kidney stone formation).
b. What is the physiologic abnormality causing this condition?
●​ Defective renal reabsorption of cystine (along with ornithine, lysine, and arginine, known as COLA amino acids), leading
to cystine crystallization and stone formation.​

Case 4: An 8-month-old boy is admitted with failure to thrive and orange sand in his diapers.
a. Is the urine pH consistent with the appearance of uric acid crystals?
Answer: Yes. Uric acid crystals form in acidic urine (pH <5.5), and the reported pH is 5.0, which is consistent.
b. Is there any correlation between the urinalysis results and the substance observed in the child’s diapers? Explain your
answer.
Answer: Yes. The "orange sand" in the diapers is likely uric acid crystals, which can be seen in cases of
hyperuricosuria or dehydration in infants.
c. What disorder do the patient’s history and the urinalysis results indicate?
Answer: Lesch-Nyhan syndrome (caused by a deficiency in HGPRT enzyme).
d. Is the fact that this is a male patient of any significance? Explain your answer.
Answer: Yes. Lesch-Nyhan syndrome is X-linked recessive, meaning it primarily affects males.
e. Name the enzyme that is missing.
Answer: Hypoxanthine-guanine phosphoribosyltransferase (HGPRT).​

Case 5: A technician notices that an unpreserved urine specimen has turned black.
a. Is this observation significant? Explain your answer.
Answer: Yes. Black urine on standing suggests alkaptonuria, a disorder caused by a deficiency in homogentisic acid
oxidase. Homogentisic acid oxidizes upon exposure to air, turning urine black.
b. The original urinalysis report showed the specimen to be positive for ketones. Is this significant? Why or why not?
Answer: Yes, it could indicate metabolic dysfunction. Ketones in urine suggest increased fat metabolism, which can
occur in starvation, diabetes, or inborn errors of metabolism.
c. If the ketones are negative and the pH is 8.0, is this significant? Why or why not?
Answer: Yes. A high urine pH (8.0) in the absence of ketones suggests bacterial contamination or a urinary tract
infection (UTI). Some bacteria (e.g., Proteus) produce urease, which converts urea to ammonia, raising the pH.​

Case 6: Bobby Williams, age 8, is admitted with a ruptured appendix.

a. Is the catheter bag color significant?
Answer: Yes. A blue coloration in the urine suggests blue diaper syndrome (Hartnup disease or tryptophan
metabolism disorder). This disorder results in the abnormal breakdown of tryptophan, leading to the excretion of
indican, which turns blue when oxidized in air.
b. What condition can be suspected from this history?
Answer: Blue diaper syndrome (Hartnup disease or primary indicanuria). Symptoms include failure to thrive, amino
acid malabsorption, and blue-stained urine. It is inherited in an autosomal recessive pattern.
c. What is Bobby’s prognosis?
Answer: Good with proper treatment. Niacin (Vitamin B3) supplementation can help, as Hartnup disease leads to
niacin deficiency due to defective tryptophan metabolism. A high-protein diet may also be beneficial.​
Case 7: An anemic patient is suspected of having lead poisoning.
a. What historical urine test was requested?
Answer: Aminolevulinic acid (ALA) test. Lead poisoning inhibits delta-aminolevulinic acid dehydratase (ALA-D),
leading to an accumulation of ALA in urine.
b. What should be added to the urine before testing?
Answer: Acetyl acetone, which reacts with ALA to form a colored complex.
c. What element of heme synthesis would this be testing for?
Answer: Delta-aminolevulinic acid (ALA), an intermediate in heme biosynthesis.
d. Name another substance that can be tested for lead poisoning.
Answer: Porphobilinogen (PBG) or free erythrocyte protoporphyrin (FEP). FEP accumulates because lead inhibits
ferrochelatase, preventing iron from incorporating into protoporphyrin.
e. What element of heme synthesis would this test for?
Answer: Porphobilinogen (PBG) or protoporphyrin IX, both of which accumulate due to lead's effect on heme
production enzymes.​

Case 1: 14-year-old boy with edema and hematuria

a. What disorder do these results and history indicate?​
​ Answer: Post-streptococcal glomerulonephritis (PSGN). The boy recently had a sore throat, has edema, hematuria,
proteinuria, and elevated BUN, which are classic signs of PSGN. The presence of dysmorphic RBCs and RBC casts confirms
glomerular involvement.
b. What specific characteristic was present in the organism causing the sore throat?​
​ Answer: Group A Streptococcus has M protein. The M protein is a virulence factor in Group A Streptococcus, which triggers
an immune response leading to glomerulonephritis.
c. What is the significance of the dysmorphic RBCs?​
​ Answer: They indicate glomerular damage. The dysmorphic RBCs occur when red blood cells pass through the damaged
glomerular basement membrane, causing them to become misshapen.
d. Are the WBCs significant? Why or why not?​
​ Answer: No, because they are present in small numbers and there is no infection. A few WBCs can be seen in
glomerulonephritis, but since there is no nitrite positivity or bacteria, it is not an infection.

Case 2: 40-year-old man with recurrent hematuria

a. What specific disease do the patient’s laboratory results and history suggest?​
​ Answer: IgA nephropathy (Berger’s disease). Recurrent hematuria associated with exercise or stress is a hallmark of IgA
nephropathy.
b. Which laboratory result is most helpful in diagnosing this disease?​
​ Answer: Elevated serum IgA. The IgA nephropathy is caused by IgA immune complex deposition in the glomeruli.
c. What additional diagnosis does his current condition suggest?​
​ Answer: Chronic kidney disease. The high BUN and creatinine, low creatinine clearance, and proteinuria suggest
progression to chronic kidney disease.
d. What is the significance of the positive result for urine glucose?​
​ Answer: Likely due to tubular dysfunction. This patient has kidney disease, which may affect glucose reabsorption.
e. Is the specific gravity significant? Why or why not?
Answer: Yes, it indicates impaired kidney function. A low specific gravity suggests the kidneys are losing their ability to
concentrate urine.
f. What is the significance of the waxy casts?​
​ Answer: Indicative of chronic kidney disease. Waxy casts form in dilated, damaged tubules and are a sign of chronic renal
failure.

Case 3: 45-year-old woman with massive proteinuria

a. What renal disorder do these results suggest?​
​ Answer: Nephrotic syndrome. Massive proteinuria (>3.5 g/day), hypoalbuminemia, and hyperlipidemia are the defining
features of nephrotic syndrome.
b. How does the patient’s history relate to the disorder?​
​ Answer: Severe hypertension can cause kidney damage. Hypertension increases glomerular pressure, leading to protein
loss.
c. What physiologic mechanism accounts for the massive proteinuria?​
​ Answer: Damage to the glomerular filtration barrier. Loss of the negative charge and structural damage allow protein to leak
into the urine.
d. What is the relationship of the proteinuria to the edema?​
​ Answer: Low albumin causes decreased oncotic pressure. When albumin is lost in urine, fluid moves from blood vessels to
tissues, causing edema.
e. What mechanism produces the oval fat bodies?​
​ Answer: Lipiduria due to loss of proteins and lipoproteins. The kidney tries to compensate for protein loss by increasing lipid
production, which appears in the urine as oval fat bodies.
Case 4: 4-year-old child with periorbital edema
a. What disorder do the laboratory results suggest?​
​ Answer: Minimal change disease. The presence of massive proteinuria, hypoalbuminemia, and periorbital edema is
characteristic of minimal change disease.
b. What is the most probable cause of the patient’s disorder?​
​ Answer: T-cell dysfunction. Minimal change disease is caused by T-cell–mediated damage to the glomerular filtration
barrier.
c. Is this considered to be of prerenal, renal, or postrenal origin?​
​ Answer: Renal. The disorder affects the kidneys directly.
d. What is the significance of the specific gravity result?​
​ Answer: High specific gravity indicates concentrated urine. Despite protein loss, the kidneys still retain the ability to
concentrate urine.
e. What is the significance of the RTE cells?​
​ Answer: Renal tubular epithelial cells indicate tubular damage. The presence of RTE cells suggests tubular injury due to
protein overload.

Case 5: 32-year-old construction worker with hemoptysis

a. What disorder do the laboratory results suggest?​
​ Answer: Goodpasture syndrome. Hematuria, hemoptysis, and the presence of anti-glomerular basement membrane (GBM)
antibodies suggest Goodpasture syndrome.
b. How is this disorder affecting the glomerulus?​
​ Answer: Autoimmune attack on the GBM. Antibodies attack type IV collagen in the GBM, leading to glomerular inflammation
and damage.
c. If the anti-GBM test is negative, what disorder might be considered?​
​ Answer: Granulomatosis with polyangiitis (Wegener’s). ANCA-associated vasculitis can present similarly but does not have
anti-GBM antibodies.
d. What is the diagnostic test for this disorder?​
​ Answer: Anti-GBM antibody test. This test confirms Goodpasture syndrome.
e. By what mechanism does this disorder affect the glomerulus?​
​ Answer: Type II hypersensitivity reaction. Direct antibody-mediated attack on the basement membrane leads to nephritis.

Case 6: 25-year-old pregnant woman with UTI symptoms

a. What is the most probable diagnosis for this patient?​
​ Answer: Urinary tract infection (UTI). Presence of nitrite, leukocytes, and bacteria suggests a UTI.
b. What is the correlation between the color and the specific gravity?​
​ Answer: Light color with low specific gravity suggests dilute urine. Pregnancy causes increased urine output, leading to
dilution.
c. What is the significance of the blood and protein tests?​
​ Answer: Indicative of inflammation. Blood and protein can be present in UTIs due to irritation of the urinary tract.
d. Is this specimen suitable for the appearance of glitter cells? Explain your answer.​
​ Answer: Yes, because of the high WBC count. Glitter cells are WBCs in dilute urine.
e. What disorder might develop if this disorder is not treated?​
​ Answer: Pyelonephritis. Untreated UTIs can ascend to the kidneys and cause a more severe infection.

Case 7: 65-year-old man with fever and urinary retention

a. What disorder is indicated by these results?​
​ Answer: Acute bacterial prostatitis. Fever, dysuria, urinary retention, and WBCs with bacteria suggest an infection of the
prostate.
b. What is the significance of the urine WBCs?​
​ Answer: Indicates inflammation/infection. Increased WBCs in urine suggest an inflammatory response, likely due to
bacterial infection.
c. What does the presence of bacteria indicate?​
​ Answer: Urinary tract infection. Bacteria confirm an ongoing infection, likely originating from the prostate.
d. What is the significance of the oval fat bodies?​
​ Answer: Possible nephrotic syndrome. If present in large amounts, oval fat bodies may indicate underlying kidney damage
or nephrotic syndrome.
e. What disorder might develop if this condition is not treated?​
​ Answer: Sepsis or chronic bacterial prostatitis. Untreated prostatitis can lead to bloodstream infection (sepsis) or a
long-term bacterial infection.

Case 8: 50-year-old woman with dysuria and hematuria

a. What disorder is suggested by these results?​
​ Answer: Bladder cancer. Persistent hematuria without infection is a red flag for malignancy.
b. What additional tests could confirm the diagnosis?
Answer: Urine cytology, cystoscopy, and biopsy. These tests help detect cancer cells and confirm a bladder tumor.
c. What is the significance of the RBCs?
Answer: Suggests bleeding in the urinary tract. Hematuria without infection or stones raises suspicion of malignancy.
d. Why is the absence of WBCs significant?​
​ Answer: Suggests non-infectious cause. Infections usually cause increased WBCs, but their absence points to another
cause like cancer.
e. What disorder might develop if this condition is not diagnosed early?​
Answer: Invasive bladder cancer. If left untreated, bladder cancer can spread to deeper tissues and metastasize.

Case 9: 60-year-old man with back pain and kidney failure

a. What disorder do these results suggest?​
​ Answer: Multiple myeloma. Bone pain, kidney failure, and Bence-Jones proteins suggest plasma cell cancer.
b. What laboratory result is most specific for this disorder?
Answer: Bence-Jones protein in urine. These light chains are characteristic of multiple myeloma.
c. How does this disorder affect the kidney?​
​ Answer: Light chain cast nephropathy. Excess light chains clog the kidney tubules, causing renal failure.
d. Why is there an absence of protein on the dipstick despite the presence of protein in the urine?​
​ Answer: Dipstick detects albumin, not Bence-Jones proteins. Multiple myeloma proteins are free light chains, which do not
react with standard dipstick tests.
e. What disorder might develop if this condition is not treated?​
​ Answer: End-stage renal disease (ESRD). Ongoing damage can lead to complete kidney failure requiring dialysis.

Case 10: 35-year-old man with severe flank pain and hematuria
a. What disorder is suggested by these results?​
​ Answer: Kidney stones (nephrolithiasis). Severe pain, hematuria, and no infection suggest a kidney stone.
b. What additional test could confirm the diagnosis?​
​ Answer: Non-contrast CT scan. CT is the best imaging test to detect stones.
c. What is the significance of the RBCs?​
​ Answer: Indicates urinary tract bleeding. Stones cause irritation and microscopic or visible hematuria.
d. Why is there no protein in the urine?​
​ Answer: No glomerular damage. Kidney stones affect the urinary tract but do not cause protein leakage from the kidneys.
e. What disorder might develop if this condition is not treated?​
​ Answer: Hydronephrosis or kidney infection. A blocked stone can cause urine buildup, leading to kidney swelling or
infection.