Review

Pediatric Nephrology

, Volume 20, Issue 1, pp 19-24

First online:

Cystinuria in childhood and adolescence: recommendations for diagnosis, treatment, and follow-up

  • Thomas KnollAffiliated withDepartment of Urology, University Hospital Mannheim Email author 
  • , Antonia ZöllnerAffiliated withDepartment of Pediatrics, Stadtkrankenhaus Worms
  • , Gunnar Wendt-NordahlAffiliated withDepartment of Urology, University Hospital Mannheim
  • , Maurice Stephan MichelAffiliated withDepartment of Urology, University Hospital Mannheim
  • , Peter AlkenAffiliated withDepartment of Urology, University Hospital Mannheim

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Abstract

Cystinuria, an autosomal-recessive disorder of a renal tubular amino acid transporter, is the cause of about 10% of all kidney stones observed in children. Different genetic characteristics are not represented by different phenotypes. The stones are formed of cystine, which is relatively insoluble at the physiological pH of urine. Without any preventive measures, the patients will suffer from recurrent stone formation throughout their life. Even with medical management, long-term outcome is poor due to insufficient efficacy and low patient compliance. Many patients suffer from renal insufficiency as a result of recurrent stone formation and repeated interventions. However, regular follow-up and optimal pharmacotherapy significantly increase stone-free intervals. Medical management is mainly based on hyperhydration and urine alkalinization. Sulfhydryl agents such as tiopronin can be added. Recurrent stone formation necessitates repeated urological interventions. These mostly minimally invasive procedures carry the risk of impairment of renal function. In adults, extracorporeal shockwave lithotripsy (SWL) as well as intracorporeal lithotripsy is often unsuccessful. However, in children SWL shows excellent results for cystine stones. In cases with large stone burden, percutaneous nephrolithotripsy (PNL) or even open surgical nephrolithotomy are preferred. This review discusses the underlying pathogenetic mechanisms and provides guidance for the diagnosis, therapy, and management of cystinuria following the recommendations of the International Cystinuria Consortium and the European Association of Urology.

Keywords

Urolithiasis Metabolic evaluation Medical therapy