Disease Information for Cystinuria

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Clinical Manifestations
Signs & Symptoms
Excess Thirst in Children
Abdominal Pain
Excessive thirst/polydipsia
Costovertebral Angle Pain/Tenderness
Flank Pain
Hematuria, gross
Polyuria and polydipsia
Chills
Episodic symptoms/events
Thirst Increased
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Past History
Past history/Kidney stone
Past history/Urinary tract infection
Population Group
Child
Population/Pediatrics population
Family History
Family history/Kidney disease
Family history/Kidney stones
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
URINE Dipstick /Blood abnormal
URINE Nitroprusside test abnormal
URINE Sediment/Urinalysis abnormal
Abnormal Lab Findings - Decreased
pH, arterial blood (Lab)
Potassium, serum (Lab)
Uric acid, serum (Lab)
Abnormal Lab Findings - Increased
Homocysteine serum (Lab)
Pyruvate, plasma (Lab)
URINE Amino acids
URINE Arginine
URINE Crystals
URINE Crystals/Hexagonal shaped
URINE Crystals/microscopic
URINE Cystine
URINE Glycine
URINE Hematuria, microscopic
URINE Lysine
URINE Methionine
URINE Ornithine
URINE Protein (Albumin)
URINE Red blood cells
Diagnostic Test Results
X-RAY
Xray/Radiopague kidney stone/KUB
Associated Diseases & Rule outs
Associated Disease & Complications
Acidosis
Acidosis, metabolic
Crystalluria
Cystine kidney stone
Hypokalemia
Hypouricemia
Kidney stone/cystine
Kidney stone/Nephrolithiasis/Urolithiasis
Proteinuria
Pyelonephritis, acute
Pyelonephritis, chronic
Renal colic
Urinary tract infection
Hematuria
Proteinuria in Children
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Renal/kidney involvement/disorder (ex)
CLASS/Urologic (category)
Pathophysiology
Pathophysiology/Cystine metabolism defect
Pathophysiology/Gene locus 17p13
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Hereditary disease renal effect
Pathophysiology/SLC3A1 Gene mutation
Pathophysiology/SLC7A9 Gene mutation
Process
PROCESS/Aminoacid metabolic disorder (ex)
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Stone disorder (ex)
PROCESS/Metabolic/urine excretion disorders (ex)
Treatment
Drug Therapy - Indication
RX/Bicarbonate
RX/Captopril (Capoten)
RX/Hydration
RX/Penicillamine (Cupramine)
Definition

An inherited abnormality of renal tubular transport of dibasic amino acids leading to massive urinary excretion of cystine, lysine, arginine, and ornithine.

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External Links Related to Cystinuria
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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