1. Cystinuria: clinical practice recommendation
- Author
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Servais, Aude, Thomas, Kay, Dello Strologo, Luca, Sayer, John A, Bekri, Soumeya, Bertholet-Thomas, Aurelia, Bultitude, Matthew, Capolongo, Giovanna, Cerkauskiene, Rimante, Daudon, Michel, Doizi, Steeve, Gillion, Valentine, Gràcia-Garcia, Silvia, Halbritter, Jan, Heidet, Laurence, van den Heijkant, Marleen, Lemoine, Sandrine, Knebelmann, Bertrand, Emma, Francesco, Levtchenko, Elena, Metabolic Nephropathy Workgroup of the European Reference Network for Rare Kidney Diseases (ERKNet) and eUROGEN, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Guy's and St Thomas NHS Foundation Trust [London], Children's Hospital Bambino Gesù IRCCS [Rome], University of the Study of Campania Luigi Vanvitelli, Vilnius University [Vilnius], Des Maladies Rénales Rares aux Maladies Fréquentes, Remodelage et Réparation, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'urologie [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Cliniques Universitaires Saint-Luc [Bruxelles], Fundación Puigvert [Barcelona, Spain], University of Leipzig [Leipzig, Allemagne], University Medical Center [Utrecht], Hôpital Edouard Herriot [CHU - HCL], Hospices Civils de Lyon (HCL), Université de Lyon, Department of Development and Regeneration, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), University Hospitals Leuven [Leuven], UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie, CarMeN, laboratoire, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte [CHU-Necker] (MARHEA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service d'Urologie [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Leipzig University, Servais, Aude, Thomas, Kay, Dello Strologo, Luca, A Sayer, John, Bekri, Soumeya, Bertholet-Thomas, Aurelia, Bultitude, Matthew, Capolongo, Giovanna, Cerkauskiene, Rimante, Daudon, Michel, Doizi, Steeve, Gillion, Valentine, Gràcia-Garcia, Silvia, Halbritter, Jan, Heidet, Laurence, van den Heijkant, Marleen, Lemoine, Sandrine, Knebelmann, Bertrand, Emma, Francesco, and Levtchenko, Elena
- Subjects
Adult ,0301 basic medicine ,Pediatrics ,medicine.medical_specialty ,Consensus ,Urinary system ,[SDV]Life Sciences [q-bio] ,030232 urology & nephrology ,MEDLINE ,potassium citrate ,tiopronin ,Disease ,Kidney ,Nephropathy ,03 medical and health sciences ,0302 clinical medicine ,Quality of life ,cystinuria ,medicine ,Humans ,d-penicillamine ,urolithiasis ,Child ,cystine ,Cystinuria ,business.industry ,D-penicillamine ,Evidence-based medicine ,medicine.disease ,3. Good health ,[SDV] Life Sciences [q-bio] ,030104 developmental biology ,Systematic review ,Nephrology ,Quality of Life ,Cystine ,tiopronin and urolithiasis ,business - Abstract
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. ispartof: KIDNEY INTERNATIONAL vol:99 issue:1 pages:48-58 ispartof: location:United States status: published
- Published
- 2021