Cystinuria

disorder

SNOMED 85020001CUI C0010691

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Treatments & Interventions

Penicillamine

substance

Iodoquinol

substance

Clinical Trials

Total Trials

Recruiting

With Results

Recent Trials

Effect of Increasing Doses of Cystine Binding Thiol Drugs on Cystine Capacity in Patients With Cystinuria

NCT02125721Phase 4Completed10 enrolled

View all 1 trials on ClinicalTrials.gov

Research Evidence

Peer-reviewed studies linked via MeSH term "Cystinuria" from the MEDLINE/PubMed database.

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Pharmacological interventions for the management of cystinuria: a systematic review.

[object Object], [object Object], [object Object] · J Nephrol · 2024

PMID: 37957454Meta-AnalysisFull text (PMC)

Cystinuria: clinical practice recommendation.

[object Object], [object Object], [object Object] et al. · Kidney Int · 2021

PMID: 32918941Meta-Analysis

The effect of additional drug therapy as metaphylaxis in patients with cystinuria: a systematic review.

[object Object], [object Object], [object Object] et al. · Minerva Urol Nefrol · 2020

PMID: 32083421Meta-Analysis

Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.

[object Object], [object Object], [object Object] et al. · BMC Genomics · 2017

PMID: 28812535Meta-AnalysisFull text (PMC)

Entering into 2.0 cystinuric management with a medical digital tool to monitor urine pH: a prospective, randomized study.

[object Object], [object Object], [object Object] et al. · Actas Urol Esp (Engl Ed) · 2023

PMID: 37086842RCT

The Impact of Diet on Urinary Risk Factors for Cystine Stone Formation.

[object Object], [object Object], [object Object] et al. · Nutrients · 2021

PMID: 33561968RCTFull text (PMC)

Effect of increasing doses of cystine-binding thiol drugs on cystine capacity in patients with cystinuria.

[object Object], [object Object], [object Object] et al. · Urolithiasis · 2019

PMID: 30980122RCTFull text (PMC)

Cystinuria in children: diagnosis and treatment.

[object Object], [object Object] · World J Urol · 2025

PMID: 40234286ReviewFull text (PMC)

The genetics of cystinuria - an update and critical reevaluation.

[object Object], [object Object], [object Object] · Curr Opin Nephrol Hypertens · 2024

PMID: 38240263Review

Hydration and Nephrolithiasis in Pediatric Populations: Specificities and Current Recommendations.

[object Object], [object Object], [object Object] et al. · Nutrients · 2023

PMID: 36771434ReviewFull text (PMC)

Search all PubMed articles for Cystinuria

Research data from MEDLINE/PubMed

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Amino acid levels abnormal

Very frequent (80-99%)HP:0004337

High urine occult blood

Very frequent (80-99%)HP:0000790

Kidney stones

Very frequent (80-99%)HP:0000787

Nitroprusside-cyanide urine test positive

Very frequent (80-99%)HP:0003131

Abnormal urinary odor

Frequent (30-79%)HP:0012088

Cystine crystalluria

Frequent (30-79%)HP:0033067

Flank pain

Frequent (30-79%)HP:0030157

High blood pressure

Frequent (30-79%)HP:0000822

Hyperuricaemia

Frequent (30-79%)HP:0002149

Hypocitraturia

Frequent (30-79%)HP:0012405

Nausea and vomiting

Frequent (30-79%)HP:0002017

Echogenic fetal colon

Occasional (5-29%)HP:6000916

High urine uric acid level

Occasional (5-29%)HP:0003149

Hypercalciuria

Occasional (5-29%)HP:0002150

High urine arginine levels

HP:0003268

Lysinuria

HP:0003297

Ornithinuria

HP:0003532

Renal failure

HP:0000083

Repeated bladder infections

HP:0000010

Related Conditions

Cystinuria, type 2(child)

Isolated cystinuria(child)

Cystinuria, type 1(child)

Cystinuria, type 3(child)

Amino acid transport disorder(parent)

Specific renal tubule transport defect(parent)

Metabolic renal disease(parent)

Quick Facts

SNOMED CT: 85020001
UMLS CUI: C0010691
Fully Specified Name: Cystinuria (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 19
Known Treatments: 2
Clinical Trials: 1

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.