<p class="first" id="d6092989e358">Cystinuria (OMIM 220100) is an autosomal recessive
hereditary disorder in which high
urinary cystine excretion leads to the formation of cystine stones because of the
low solubility of cystine at normal urinary pH. We developed clinical practice recommendation
for diagnosis, surgical and medical treatment, and follow-up of patients with cystinuria.
Elaboration of these clinical practice recommendations spanned from June 2018 to December
2019 with a consensus conference in January 2019. Selected topic areas were chosen
by the co-chairs of the conference. Working groups focusing on specific topics were
formed. Group members performed systematic literature review using MEDLINE, drafted
the statements, and discussed them. They included geneticists, medical biochemists,
pediatric and adult nephrologists, pediatric and adult urologists experts in cystinuria,
and the Metabolic Nephropathy Joint Working Group of the European Reference Network
for Rare Kidney Diseases (ERKNet) and eUROGEN members. Overall 20 statements were
produced to provide guidance on diagnosis, genetic analysis, imaging techniques, surgical
treatment (indication and modalities), conservative treatment (hydration, dietetic,
alkalinization, and cystine-binding drugs), follow-up, self-monitoring, complications
(renal failure and hypertension), and impact on quality of life. Because of the rarity
of the disease and the poor level of evidence in the literature, these statements
could not be graded. This clinical practice recommendation provides guidance on all
aspects of the management of both adults and children with cystinuria, including diagnosis,
surgery, and medical treatment.
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