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- Disease Information
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Disease Information for Fanconi's Hereditary Renal Disease
- 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
(Edit)
- External Links Related to Fanconi's Hereditary Renal Disease
- 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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