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- Disease Information
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Disease Processes ▼
- Auto Immune
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Major Organs-Systems ▼
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Disease Information for Cystinosis
- Clinical Manifestations
- Signs & Symptoms
- Excess Thirst in Children
- Excessive thirst/polydipsia
- Polyuria and polydipsia
- Thirst Increased
- Disease Progression
- Course/Chronic disorder
- Course/Chronic only
- Demographics & Risk Factors
- Past History
- Past history/Kidney stone
- 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)
- Cystine crystals/Leukocytes (Lab)
- Hypercalciuria with normal serum calcium
- Hypercalciuria/Normocalcemia pattern
- URINE Nitroprusside test abnormal
- URINE Sediment/Urinalysis abnormal
- Abnormal Lab Findings - Decreased
- Uric acid, serum (Lab)
- Abnormal Lab Findings - Increased
- Cysteine levels (Lab)
- Cystine (Lab)
- Homocysteine serum (Lab)
- Pyruvate, plasma (Lab)
- URINE Amino acids
- URINE Ammonia
- URINE Arginine
- URINE Calcium
- URINE Casts/Protein casts
- URINE Crystals
- URINE Crystals/Hexagonal shaped
- URINE Cystine
- URINE Globulins
- URINE Globulins Gamma
- URINE Glutamic acid
- URINE Histidine
- URINE Homocysteine
- URINE Hyaline Casts
- URINE Isoleucine
- URINE Leucine
- URINE Lysine
- URINE Methionine
- URINE Ornithine
- URINE Potassium
- URINE Protein (Albumin)
- STOOL Phosphorous
- Diagnostic Test Results
- Other Tests & Procedures
- Amniocentesis/Abnormality
- Pathology
- Bone Marrow/Cystine crystals
- PATH/Cystine crystals/spleen tissue
- PATH/Cystine crystals/cornea
- Associated Diseases & Rule outs
- Associated Disease & Complications
- Crystalluria
- Cystine kidney stone
- Fanconi's Hereditary Renal Syndrome
- Hypercalciuria
- Hypercalcuria
- Hypouricemia
- Kidney stone/Nephrolithiasis/Urolithiasis
- Proteinuria
- Renal Failure Chronic
- Proteinuria in Children
- Disease Mechanism & Classification
- Class
- CLASS/Pediatric disorders (ex)
- Pathophysiology
- Pathophysiology/Cystine metabolism defect
- Pathophysiology/Gene locus 17p13
- Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
- Pathophysiology/Hereditary disease renal effect
- 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/Storage disorder (ex)
- Synonyms
- Synonym
- 6 B5 CYSTINOSIS, Cystine diathesis, Cystine disease, cystine storage disease, Cystinoses, Cystinosis, Cystinosis (disorder), Cystinosis (dup) (disorder), Synonym/Abderhalden-Kaufmann-Lignac syndrome, Synonym/Cystine storage disease, infantile, Synonym/De Toni-Fanconi syndrome, Synonym/Fanconi syndrome, infantile with cystinosis, Synonym/Infantile cystinosis, Synonym/Lignac-Debre-Fanconi syndrome, Synonym/Lignac-Fanconi syndrome
- Treatment
- Drug Therapy - Indication
- RX/Captopril (Capoten)
- Definition
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Lysosomal storage disorders of unknown molecular defect, characterized by widespread deposition of cystine crystals in reticuloendothelial cells. (From Dorland, 27th ed)
(Edit)
- External Links Related to Cystinosis
- 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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