CYSTINE CALCULI : Diagnosis and Management - 11/09/11

Doi : 10.1016/S0094-0143(05)70361-X

Scott D. Rutchik, MD ^{^{*
From the Department of Urology, Case Western Reserve University, Cleveland, Ohio}}, Martin I. Resnick, MD ^{^{*
From the Department of Urology, Case Western Reserve University, Cleveland, Ohio}}

Résumé

It has been nearly two centuries since Wollaston^{78 Wollaston W.H. On cystic oxide: A new species of urinary calculus Trans R Soc London 1810 ; 100 : 223 [cross-ref]

Cliquez ici pour aller à la section Références} first described the presence of an unusual chemical component in bladder calculi, which he termed cystic oxide. Observing the absence of an oxide moiety, Berzelius^{3 Berzelius J.G. Calculus urinaires Traite Chem 1833 ; 7 : 424

Cliquez ici pour aller à la section Références} renamed the compound cystine, but it was not until 1902 that Friedman^{23 Friedman E. Der Kreislauf des Schwefels in der organischen Natur Ergeb Physiol 1902 ; 1 : 15

Cliquez ici pour aller à la section Références} finally elucidated the chemical structure of cystine. Cystinuria is recognized today as the excessive excretion into the urine of the four basic amino acids cystine, lysine, ornithine, and arginine (Figure 1). Of these, only cystine is relatively insoluble at ordinary urinary pHs.^{74 Thier S.O., Halperin E.C. Cystinuria Nephrolithiasis New York: Churchill Livingstone (1980).
208

Cliquez ici pour aller à la section Références} Patients afflicted with cystinuria produce a supersaturated urine and are at risk for cystine crystallization and stone formation. For this reason, the only phenotypically important feature of cystinuria is the predisposition toward calculi in the urinary tract. Nutritional deficiencies of the essential dibasic amino acids lysine and arginine do not occur in cystinurics because the jejunal enzymatic defect responsible for their transport as monomers does not affect their absorption in dipeptide form.^{32 Hekkier M.D., Perrett D., Holdsworth C.D. Dipeptide absorbtion in cystinuria BMJ 1970 ; 4 : 782

Cliquez ici pour aller à la section Références, 66 Silk D.B.A. Progress report—Peptide absorption in man Gut 1974 ; 15 : 494

Cliquez ici pour aller à la section Références}

Overall, cystine stones represent 1% to 2% of urinary calculi.^{42 Leusmann D.B., Blaschke R., Schmandt W. Results of 5035 stone analyses: A contribution to epidemiology of urinary stone disease Scand J Urol Nephrol 1990 ; 24 : 205-210 [cross-ref]

Cliquez ici pour aller à la section Références, 50 Pahira J.J. Management of the patient with cystinuria Urol Clin North Am 1987 ; 14 : 339-346

Cliquez ici pour aller à la section Références} The worldwide prevalence of homozygous cystinuria varies considerably, affecting 1 per 15,000 persons in the United States but as many as 1 in 2500 Jews of Libyan extraction^{51 Pak C. Cystine lithiasis Urolithiasis—A Medical and Surgical Reference Philadelphia: WB Saunders (1990).
133

Cliquez ici pour aller à la section Références, 77 Weinberger A., Sperling O., Rabnovitz M. High frequency of cystinuria among Jews of Libyan origin Hum Hered 1974 ; 24 : 568 [cross-ref]

Cliquez ici pour aller à la section Références}; furthermore, it is a clinically important source of stone disease in children, accounting for 6% to 8% of pediatric urinary calculi.^{48 Milliner D.S., Murphy M.E. Urolithiasis in pediatric patients Mayo Clin Proc 1993 ; 68 : 241-248

Cliquez ici pour aller à la section Références, 55 Polinsky M.S., Kaiser B.A., Balaurte H.J. Urolithiasis in childhood Pediatr Clin North Am 1987 ; 34 : 683

Cliquez ici pour aller à la section Références} In their series of cystinuric patients during a 14-year follow-up, Linari et al^{43 Linari F., Marangella M., Fruttero B. , et al. The natural history of cystinuria: A 15 year follow-up in 106 patients Urolithiasis: Clinical and Basic Research New York: Plenum Press (1980).
145-158

Cliquez ici pour aller à la section Références} showed that stone disease occurred at a rate of 1.22 stone episodes per patient per year; therefore, the majority of cystinurics will suffer recurrent stone disease during their lifetimes.

Much attention has been directed toward improved means of diagnosis, prevention, and treatment of patients with cystine lithiasis, and current treatment strategies of cystine calculi may entail a multimodal approach. Advances in minimally invasive stone destruction and chemoprevention have given the urologist a sophisticated and often challenging armamentarium in the treatment of these patients. This article reviews the relevant pathophysiology of cystine calculus disease as well as techniques used in its diagnosis. Current medical and surgical techniques used in prevention and treatment also are reviewed.

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Plan

GENETICS AND PATHOPHYSIOLOGY OF CYSTINURIA

DIAGNOSIS OF CYSTINURIA AND CYSTINE CALCULI

MEDICAL PREVENTIVE AND TREATMENT MODALITIES OF CYSTINE STONES

Dietary Manipulation

Hydration and Urinary Alkalinization

Cystine-binding Agents

Irrigation Chemolytic Therapy

Mechanical Fragmentation and Endoscopic Techniques

CONCLUSIONS

Address reprint requests to Martin I. Resnick, MD, Department of Urology, University Hospitals of Cleveland, 11100 Euclid Avenue, Cleveland, OH 44106–5046