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Cystine stones

Author
David S Goldfarb, MD, FACP, FASN
Section Editor
Stanley Goldfarb, MD
Deputy Editor
Albert Q Lam, MD

INTRODUCTION

Cystinuria is a genetic cause of kidney stones with an average prevalence of 1 in 7000 births [1]. Cystine stones are found in 1 to 2 percent of stone formers, although they represent a higher percentage of stones in children (approximately 5 percent) [2].

Cystinuria is a subject of study of the Rare Kidney Stone Consortium, an organization funded by the National Institutes of Health (NIH) with international collaboration focused upon research and education aimed at improving care for these patients.

Cystinuria is a different disorder from cystinosis, which is characterized by intracellular cystine accumulation leading to the Fanconi syndrome and progressive renal failure. (See "Cystinosis".)

PATHOGENESIS, GENETICS, AND CLASSIFICATION

Cystine is a homodimer of the amino acid cysteine. Patients with cystinuria have impairment of renal cystine transport, with decreased proximal tubular reabsorption of filtered cystine resulting in increased urinary cystine excretion and cystine nephrolithiasis [3-5]. The cystine transporter also promotes the reabsorption of dibasic amino acids, including ornithine, arginine, and lysine, but these compounds are soluble so that an increase in their urinary excretion does not lead to stones. Intestinal cystine transport is also diminished, but the result is of uncertain clinical significance.

Classification — Previously, cystinuria was classified according to the amount of cystine excreted by the parents of the affected child. In that phenotypic classification system, patients were classified as type I if their parents excreted normal amounts of cystine and types II or III if parental cystine excretion was either greatly (II) or moderately (III) increased. However, with the identification of the genes responsible for this disorder (specifically, SLC3A1 and SLC7A9), a genotypic classification of cystinuria has been introduced [5-8]. Neither the genotypic nor the phenotypic classification appears to be relevant with respect to the clinical course in patients with cystinuria, as is discussed below. (See 'Genotype-phenotype correlation with stone risk' below.)

                                     
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Literature review current through: Nov 2017. | This topic last updated: Dec 15, 2017.
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