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Cystine CalculiAka: Cystine Stone, Cystine Nephrolithiasis, Cystinuria

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  1. See Also
    1. Nephrolithiasis
  2. Pathophysiology
    1. Disorder of dibasic amino acid transport
    2. Results in decreased renal cystine resorption
    3. Cystine dissolves poorly at normal Urine pH
      1. Calculi form at cystine concentration >250 mg/day
    4. Autosomal recessive inheritance
      1. Only homozygote patients form cystine stones
  3. Types
    1. Pure cystine stones
    2. Mixed cystine and calcium oxalate
  4. Management
    1. General
      1. Diuresis: reduce cystine <300 mg/L
      2. Urine Alkalinization: pH >7.5
    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)

Cystinuria (C0010691)

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.
Definition (CSP)inherited abnormality of renal tubular transport of dibasic amino acids leading to massive urinary excretion of cystine, lysine, arginine, and ornithine.
ConceptsDisease or Syndrome (T047)
ICD9270.0
MSHD003555
EnglishCSNU, CSNU - Cystinuria, Cystinuria, Cystinurias
Spanishcistinuria
Parent ConceptsAmino Acid Metabolism, Inborn Errors (C0002514), Renal Tubular Transport, Inborn Errors (C0035091), Urinary Calculi (C0042018), Renal Aminoacidurias (C0002534), Amino acid transport disorder (C0268641), Specific renal tubule transport defect (C0403495)
SourcesAOD, COSTAR, CSP, DXP, LCH, MSH, MTHICD9, NDFRT, OMIM, SCTSPA, SNOMEDCT
Derived from the NIH UMLS (Unified Medical Language System)



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