Cystinuria
Enzyme or protein defect
Dibasic amino acid transporter (COLA)
Accumulates or becomes deficient
Cystine in urine
Key features
Recurrent hexagonal cystine kidney stones
Management
Hydration, urinary alkalinisation, penicillamine/tiopronin
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
Europe PMC · from cache · sorted by publication date
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1
Role and relevance of genetic testing in patients with kidney stones: a review from EAU Section of Endourology.
Wagner CA, Sayer JA, Straub M. · 2026-06-17
unreviewed -
2
Symptomatic Benign Prostate Hyperplasia May Increase the Risk of Kidney Stones.
Naik N, Cumming C, Bena J, De S. · 2026-05-26
unreviewed -
3
Long-term outcomes of percutaneous nephrolithotomy and disease management in pediatric cystine stone patients: A 25-year single-institution experience.
Kirli EA, Kalender G, Sahin KC, Onal B. · 2026-04-21
unreviewed -
4
Selenocystine-based fluorescence assay combined with structural prediction for functional analysis of cystine transporter variants in cystinuria.
He X, Qian X, Zheng X, Zhang H, Shao J, Chen X, Ruan Q, Lyu J, Yang L, Chen L. · 2026-07-01
unreviewed -
5
Surgical management and clinical reflections on acute type A intramural hematoma with a focal intimal tear in an adult with double aortic arch: a case report.
Zhu D, Zhou J, Wan C, Ren X, Wei W. · 2026-06-30
unreviewed -
6
Cystine-binding medication is poorly accessible for the treatment of cystinuria.
Peng X, Penninx B, Marsman RF, Capolongo G, Courbebaisse M, Knebelmann B, Trepiccione F, Aude F, Servais A, H… · 2026-06-30
unreviewed -
7
Predictive value of family history of kidney stones for metabolic abnormalities and stone composition.
Golomb D, Confino I, Avda Y, Lieba A, Hausmann M, Cooper A, Raz O. · 2026-06-26
unreviewed -
8
Fatal aortoesophageal fistula arising from a remodeled descending aorta after repair of acute type A intramural hematoma.
Asada S, Kotani S, Matsumoto R, Hamada R, Imamura Y, Miyashita N, Sakaguchi G. · 2026-04-08
open access unreviewed -
9
Early Dynamic Changes in Haematoma Thickness in Medically Managed Type A Intramural Haematoma: A Multicentre Retrospective Study.
Motoji Y, Kitamura T, Naito N, Shikata F, Miura Y, Fukuzumi M, Okada H, Matsushita H, Tamura T, Horai T, Miya… · 2026-06-01
open access unreviewed -
10
Performance of large language models in urological decision support: a guideline-based comparative evaluation in urolithiasis.
Tunçekin A, Aktaş Y. · 2026-06-06
open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.