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Stop…let Me A-”cyst” You. A Case Study about Cystinuria by Amy Albright. Patient History. 57 year old woman with history of renal problems Patient hospitalized upon urgent referral from doctor’s office Urinalysis was performed . Urinalysis Results.

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stop let me a cyst you

Stop…let Me A-”cyst” You

A Case Study about Cystinuria by Amy Albright

patient history
Patient History
  • 57 year old woman with history of renal problems
  • Patient hospitalized upon urgent referral from doctor’s office
  • Urinalysis was performed
urinalysis results
Urinalysis Results

Test Patient Result Reference Range

Color Yellow

Clarity Cloudy

Glucose neg (negative)

Bilirubin neg (negative)

Ketones neg (negative)

Sp. Gravity 1.021 (1.005-1.030)

Blood 2+ (negative)

pH 7.5 (5.0-8.0)

Protein 1+ (negative)

Urobilinogen 1.0 (0.2-1.0)

Nitrite neg (negative)

Leuk. Esterase 3+ (negative)

RBC 11-24 (0-3)

WBC 51-100 (0-5)

Epithelials 57 (none)

Hyaline cysts 1 (<10)

Bacteria 1+ (negative)

Crystals cystine 1+(negative)

past patient history
Past Patient History
  • Diagnosed with cystinuria as a child
  • Left side nephrectomy as a child secondary to damage by cystine stones
  • Recurrent kidney stones in the remaining right kidney
  • Nephrostomy tube placed into

remaining kidney

questions to be considered
Questions to be Considered:

1.) How does the patient’s current renal problems relate to the cystine crystals found?

2.) What laboratory tests are performed to confirm the presence of cystine crystals in the urine?

3.) What are the long term effects of cystine crystal formation?

4.) Are there treatments available for patients with cystinuria?

pathogenesis of cystinuria
Pathogenesis of Cystinuria
  • Autosomal recessive disorder
  • Involves a defect in the renal transport of cystine by the tubules
  • Defect results in lack of cystine reabsorbtion of the kidney
  • Homozygous patients usually the only ones to present with problems
  • Heterozygotes have a milder form of cystinuria (cystine crystals found in urine during analysis but don’t usually form stones)
solubility within the kidney
Solubility within the Kidney
  • Normal excretion of amino acids such as cystine into the urine is about 100 mg/day
  • Heterozygous excrete around 100-300 mg/day
  • Homozygous excrete around 500-1000 mg/day
  • Solubility limit is around 300-400 mg/day
  • Stones composed of cystine form when the concentration of cystine exceeds the normal solubility levels and the excess cannot go into solution (cystine crystals favor the existing free cystine and will compound it to form the stone)
cystine confirmation
Cystine Confirmation
  • Initially found during a microscopic urinalysis
    • crystals are found in neutral to acidic pH and are flat hexagonal shapes
  • Confirmation test for cystine once crystals are found microscopically is a cyanide-nitroprusside test
    • involves mixing the urine with sodium cyanide and then sodium nitroprusside which will chemically react to produce a red-purple color indicative of presence of cystine crystals in the urine
positive nitroprusside reaction
Positive Nitroprusside Reaction:

Left side: Negative control

Right side: Positive for cystine

long term effects of cystinuria
Long Term Effects of Cystinuria
  • Recurrent stone formation as seen with this patient
  • Possible nephrectomy due to renal failure
  • Pain associated with stone formation and passage
  • Focus is on management
  • Relief of symptoms (pain medications)
  • Prevention of further stones (drinking large amounts of water to dilute the urine)
treatments continued
Treatments - continued…..
  • Watching diet ( avoiding methionine rich foods)
  • Alkanization of the urine (use of sodium bicarbonate or sodium citrate to more readily dissolve the cystine)
  • Lithotripsy (non-invasive, shock waves to break up the stone to where it can be passed)
  • Invasive procedures for stone removal
  • 57 year old women with presence of cystine crystals in the urine
  • Confirmatory nitroprusside test was positive for cystine
  • History revealed many renal problems associated with cystinuria
  • Treatments are unpredictable

This case study was

prepared by

Amy Albright, MT(ASCP)

while she was a

Medical Technology

student in

the 2004 MT Class at William Beaumont

Hospital, Royal Oak, MI.