Cystinuria without cystine? Correct assessment to avoid misdiagnosis: lessons for the clinical nephrologist.

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  • Additional Information
    • Source:
      Publisher: Springer Country of Publication: Italy NLM ID: 9012268 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1724-6059 (Electronic) Linking ISSN: 11218428 NLM ISO Abbreviation: J Nephrol Subsets: MEDLINE
    • Publication Information:
      Publication: 2014- : Heidelberg : Springer
      Original Publication: Rome : Acta Medica,
    • Subject Terms:
      Cystinuria*/diagnosis ; Kidney Calculi*; Humans ; Cystine ; Nephrologists
    • References:
      Servais A, Thomas K, Dello Strologo L, Sayer JA, Bekri S, Bertholet-Thomas A, Bultitude M, Capolongo G, Cerkauskiene R, Daudon M, Doizi S, Gillion V, Gràcia-Garcia S, Halbritter J, Heidet L, van den Heijkant M, Lemoine S, Knebelmann B, Emma F, Levtchenko E, Metabolic Nephropathy Workgroup of the European Reference Network for Rare Kidney Diseases (ERKNet) and eUROGEN (2021) Cystinuria: clinical practice recommendation. Kidney Int 99(1):48–58. (PMID: 10.1016/j.kint.2020.06.03532918941)
      D’Ambrosio V, Capolongo G, Goldfarb D, Gambaro G, Ferraro PM (2022) Cystinuria: an update on pathophysiology, genetics, and clinical management. Pediatr Nephrol 37(8):1705–1711. (PMID: 10.1007/s00467-021-05342-y34812923)
      Chillarón J, Font-Llitjós M, Fort J, Zorzano A, Goldfarb DS, Nunes V, Palacín M (2010) Pathophysiology and treatment of cystinuria. Nat Rev Nephrol 6(7):424–434. (PMID: 10.1038/nrneph.2010.6920517292)
      Prot-Bertoye C, Lebbah S, Daudon M, Tostivint I, Bataille P, Bridoux F, Brignon P, Choquenet C, Cochat P, Combe C, Conort P, Decramer S, Doré B, Dussol B, Essig M, Gaunez N, Joly D, Le Toquin-Bernard S, Méjean A, Meria P, Morin D, N’Guyen HV, Noël C, Normand M, Pietak M, Ronco P, Saussine C, Tsimaratos M, Friedlander G, Traxer O, Knebelmann B, Courbebaisse M, French Cystinuria Group (2015) CKD and its risk factors among patients with cystinuria. Clin J Am Soc Nephrol 10(5):842–51. (PMID: 10.2215/CJN.06680714257170714422236)
      Bostrom H, Hambræus L (1964) Cystinuria in Sweden, clinical, histo-pathological, and medico-social aspects of the disease. Acta Med Scand 411:1.
      Primiano A, Persichilli S, Ferraro PM, Minucci A, Gambaro G, Urbani A, Gervasoni J (2019) A combination of infrared spectroscopy and morphological analysis allows successfully identifying rare crystals and atypical urinary stones. Ann Ist Super Sanita 55(3):205–208. (PMID: 31553311)
      Primiano A, Persichilli S, Gambaro G, Ferraro PM, D’Addessi A, Cocci A, Schiattarella A, Zuppi C, Gervasoni J (2014) FT-IR analysis of urinary stones: a helpful tool for clinician comparison with the chemical spot test. Dis Mark 2014:176165.
      Primiano A, Persichilli S, Di Giacinto F, Ciasca G, Baroni S, Ferraro PM, De Spirito M, Urbani A, Gervasoni J (2021) Attenuated total reflection-Fourier transform infrared spectroscopy (ATR-FTIR) detection as a rapid and convenient screening test for cystinuria. Clin Chim Acta 518:128–133. (PMID: 10.1016/j.cca.2021.03.01733794142)
      Torricelli FC, Marchini GS, De S, Yamaçake KG, Mazzucchi E, Monga M (2014) Predicting urinary stone composition based on single-energy noncontrast computed tomography: the challenge of cystine. Urology 83(6):1258–1263. (PMID: 10.1016/j.urology.2013.12.06624726314)
    • Contributed Indexing:
      Keywords: Cystinuria; Kidney stones; Metabolic study
    • Accession Number:
      48TCX9A1VT (Cystine)
    • Publication Date:
      Date Created: 20230611 Date Completed: 20231211 Latest Revision: 20240116
    • Publication Date:
      20240116
    • Accession Number:
      10.1007/s40620-023-01660-6
    • Accession Number:
      37303022