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Cystinuria and Cystine Stones

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Urinary Tract Stone Disease

Abstract

Cystinuria is responsible for up to 2% of all renal stones, and up to 10% of childhood stone disease. Patients affected by this inherited disease suffer from recurrent stone formation, leading to repeated surgical/endoscopic interventions, consecutive renal impairment, and, consequently, a significant impairment of life quality. The responsible genes causing cystinuria were first described in 1994. Unfortunately, the rarity of the disease accounts for the absence of large clinical series. The establishment of the International Cystinuria Consortium attempts to combine small single-center series, which already has led to a better genetic understanding and a recently revised classification.

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  1. Urologische Klinik, Universitätsmedizin Mannheim, Mannheim, Germany

    Patrick Krombach

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  2. Gunnar Wendt-Nordahl
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  3. Thomas Knoll
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  1. Dept. Urology, Spire Manchester Hospital, Russell Road, Manchester, M16 8AJ, United Kingdom

    Nagaraja P. Rao

  2. Division of Urologic Surgery, Duke University Medical Center, Durham, 27710, North Carolina, USA

    Glenn M. Preminger

  3. Department of Urology, South Manchester University Hospitals, Manchester, M20 2LR, United Kingdom

    John P. Kavanagh

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Krombach, P., Wendt-Nordahl, G., Knoll, T. (2010). Cystinuria and Cystine Stones. In: Rao, N., Preminger, G., Kavanagh, J. (eds) Urinary Tract Stone Disease. Springer, London. https://doi.org/10.1007/978-1-84800-362-0_17

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