Cystinuria: clinical practice recommendation

نویسندگان

چکیده

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

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ژورنال

عنوان ژورنال: Kidney International

سال: 2021

ISSN: ['0085-2538', '1523-1755']

DOI: https://doi.org/10.1016/j.kint.2020.06.035