Disease Information for Fanconi's Hereditary Renal Disease

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Clinical Manifestations
Signs & Symptoms
Excessive thirst/polydipsia
Muscle weakness
Short stature
Thirst Increased
Weakness
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
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)
Renal function abnormalities (Lab)
Hypercalciuria with normal serum calcium
Hypercalciuria/Normocalcemia pattern
URINE Alkaline
Abnormal Lab Findings - Decreased
Bicarbonate, serum (Lab)
Carbon Dioxide Total Content/CO2
pH, arterial blood (Lab)
Phosphate Serum (Lab)
Potassium, serum (Lab)
Uric acid, serum (Lab)
Abnormal Lab Findings - Increased
BUN/Blood urea nitrogen (Lab)
Creatinine, serum (Lab)
Tyrosine (Lab)
URINE Amino acids
URINE Bicarbonate
URINE Calcium
URINE Glucose
URINE PH
URINE Phosphorus
URINE Uric acid
Diagnostic Test Results
Pathology
Bone Marrow/Cystine crystals
PATH/Cystine crystals/spleen tissue
PATH/Cystine crystals/cornea
Associated Diseases & Rule outs
Rule Outs
Hypokalemia
Rickets/Vitamin D dependent/familial
Associated Disease & Complications
Acid/Base derangement
Acidosis
Acidosis, metabolic
Acute anuria/renal failure
Aminoaciduria
Azotemia in Children
Azotemia/Acute
Childhood malignancy
Cystine kidney stone
Cystinosis
Hepatoblastoma
Hypercalciuria
Hypercalcuria
Hyperphosphaturia
Hypokalemia
Hypophosphatemia
Hypouricemia
Kidney stone/Nephrolithiasis/Urolithiasis
Osteomalacia
Renal glucosuria
Renal tubular acidosis, proximal
Rickets/vitamin D deficiency
Tyrosinemia, hereditary
Ureterolithiasis/stone in ureter
Proteinuria in Children
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Renal tubule defect/manifestation (ex)
CLASS/Renal/kidney involvement/disorder (ex)
CLASS/Urologic (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Hereditary disease renal effect
Pathophysiology/Renal Bicarbonate-Water loss
Process
PROCESS/Biochemical (category)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
Synonyms
Synonym
Congenital Fanconi syndrome, Congenital Fanconi syndrome (disorder), CTNS, CYSTINOSIN DEFECT OF, CYSTINOSIS NEPHROPATHIC, De Toni Debre Fanconi Syndrome, 'De Toni Fanconi Debre' syndrome, De Toni Fanconi syndrome, deToni Fanconi syndrome, Fanconi, Fanconi de Toni Debre syndrome, Fanconi de Toni Debre syndrome (disorder), Fanconi de Toni syndrome, FANCONI RENOTUBULAR SYNDROME, Fanconi syndrome, Fanconi syndrome (disorder), Fanconi syndrome congenital, FANCONI SYNDROME WITHOUT CYSTINOSIS, Fanconi's syndrome childhood type, FRTS, Infant nephropathic cystinosis, Infantile nephropathic cystinosis, Infantile nephropathic cystinosis (disorder), Lignac Fanconi Syndrome, LYSOSOMAL CYSTINE TRANSPORT PROTEIN DEFECT OF, Nephropathic cystinosis, Primary Fanconi syndrome, Proximal renal tubular dysfunction, RENAL FANCONI SYNDROME, RFS, Syndrome De Toni Debre Fanconi, Syndrome Fanconi, Syndrome Fanconi Renotubular, Syndrome Lignac Fanconi, Synonym/Dent Syndrome Variant, Synonym/Fanconi syndrome, infantile with cystinosis
Definition

Proximal renal tubule disease , Hereditary chronic acidosis, hyperaminoaciduria, hyperphosphaturia, renal glycosuria, often with Cystinosis; group of disorders. Also occurs as adult idiopathic as syndrome with evident loss of renal bicarb and water issues. 2009

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External Links Related to Fanconi's Hereditary Renal Disease
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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