II. Epidemiology

  1. Represents 1% of Kidney stones

III. Pathophysiology

  1. Inborn error of metabolism
    1. Disorder of dibasic amino acid transport
    2. Results in decreased Renal Cystine resorption
  2. Autosomal Recessive inheritance
    1. Only Homozygote patients form Cystine Stones
  3. Cystine dissolves poorly at normal Urine pH
    1. Calculi form at cystine concentration >250 mg/day
    2. Forms staghorn calculi (as do Struvite Stones)

IV. Types

  1. Pure Cystine Stones
  2. Mixed cystine and calcium oxalate

V. Complications

VI. Management

  1. General
    1. Diuresis: reduce cystine <300 mg/L
    2. Alkalinize urine (especially if Urine pH is low, acidic)
      1. Maintain Urine pH >5.5 (6.5 - 7.0 preferred)
      2. Potassium Citrate 10-20 mEq orally three times daily with meals
      3. Calcium Citrate 500 mg, two tablets daily with meals
  2. Protocol
    1. Tiopronin (Thiola) and
    2. Increase fluid intake to maximize urine output
  3. Other management
    1. Penecillamine
    2. Chemolysis (Tham-E, Acetylcysteine)
    3. Extracorporeal Shock Wave Lithotripsy (ESWL)

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Ontology: Cystinuria (C0010691)

Definition (NCI) An autosomal recessive inherited metabolic disorder caused by mutations in the SLC3A1 and SLC7A9 genes. It is characterized by deficient re-absorption of cystine in the proximal tubules of the kidney. It results in the formation of stones in the kidney, ureter, and urinary bladder.
Definition (CSP) inherited abnormality of renal tubular transport of dibasic amino acids leading to massive urinary excretion of cystine, lysine, arginine, and ornithine.
Definition (MSH) An inherited disorder due to defective reabsorption of CYSTINE and other BASIC AMINO ACIDS by the PROXIMAL RENAL TUBULES. This form of aminoaciduria is characterized by the abnormally high urinary levels of cystine; LYSINE; ARGININE; and ORNITHINE. Mutations involve the amino acid transport protein gene SLC3A1.
Concepts Disease or Syndrome (T047)
MSH D003555
ICD10 E72.01
SnomedCT 154738008, 267498002, 85020001
English Cystinuria, Cystinurias, CYSTINURIA, TYPE NON-I, FORMERLY, CYSTINURIA, CYSTINURIA, TYPE I, FORMERLY, CYSTINURIA, TYPE II, FORMERLY, CSNU, CYSTINURIA, TYPE III, FORMERLY, CSNU3, FORMERLY, CSNU1, FORMERLY, cystinuria, cystinuria (diagnosis), Cystinuria [Disease/Finding], CSNU - Cystinuria, Cystinuria (disorder), Cystinuria, NOS
Japanese シスチン尿, シスチンニョウ
Swedish Cystinuri
Czech cystinurie, Cystinurie
Finnish Kystinuria
Russian TSISTINURIIA, ЦИСТИНУРИЯ
Croatian CISTINURIJA
Polish Cystynuria
Hungarian Cystinuria
Norwegian Cystinuri
Spanish cistinuria (trastorno), cistinuria, Cistinuria
Dutch cystinurie, Cystinurie
German Cystinurie, Zystinurie
French Cystinurie
Italian Cistinuria
Portuguese Cistinúria