Disease Information for Cystinosis

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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

Lysosomal storage disorders of unknown molecular defect, characterized by widespread deposition of cystine crystals in reticuloendothelial cells. (From Dorland, 27th ed)

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External Links Related to Cystinosis
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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