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Disease Information for Amyloidosis, hereditofamilial

Clinical Manifestations
Signs & Symptoms: Cardiomegaly/Heart dilatation
: Abdominal Distension; Abdominal distension/protrusion/sign; Abdominal Distention; Constipation Children
: Paresthesias; Symmetric Polyneuropathy
: Arthralgias Polyarthralgias; Joint Pains; Joint pains Arthralgias in Children
: Dry eyes/poor tearing; Dry eyes/Poor tearing in Children; Dryness Conjunctiva; Grainy/Gritty Eye Sensation
Clinical Presentation & Variations: Presentation/Progressive Motor Sensory Polyneuropathy
Disease Progression: Course/Chronic disorder; Course/Chronic only
Demographics & Risk Factors
Established Disease Population: Patient/Amyloidosis systemic
Population Group: Child; Population/Pediatrics population
Sex & Age Groups: Population/Child; Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured): Chromosomal abnormality (Lab)
Abnormal Lab Findings - Increased: URINE Protein (Albumin)
Diagnostic Test Results
Other Tests & Procedures: TEST/Congo red dye retention test/abnormal
Pathology: BX/Congo Red Stain Abnormal Biopsy
: BX/Bone Marrow Biopsy/Abnormal
Isotope Scan: Isotope/Aprotinin Tch labeled scan
X-RAY: Xray/Large heart shadow/Chest
Associated Diseases & Rule outs
Associated Disease & Complications: Acute anuria/renal failure; Amyloidisis, heart; Azotemia in Children; Azotemia/Acute; Peripheral neuropathy; Polyneuritis; Proteinuria
: Polyneuropathy
: Proteinuria in Children
Disease Mechanism & Classification
Class: CLASS/Pediatric disorders (ex)
Pathophysiology: Pathophysiology/Gene locus chromosome 21; Pathophysiology/Gene Locus Identified/OMIM database; Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations); Pathophysiology/Hereditary disease/Adult manifestations
: Pathophysiology/Salivary Gland Secretion Decreased
Process: PROCESS/Hereditofamilial (category); PROCESS/Metabolic/storage disorder (category); PROCESS/Storage disorder (ex)
Synonyms
Synonym: Amyloidoses Hereditary, Amyloidosis Hereditary, Hereditary Amyloidoses, Hereditary Amyloidosis, Synonym/Rukavina's Syndrome
Treatment
Drug Therapy - Indication: SX/Stem cell transplant/allogenic; SX/Stem-cell transplant
Surgical Procedures or Treatments: SX/Liver transplant
Other Treatments: TX/Genetic counselling
Definition: Be the first to add a definition for Amyloidosis, hereditofamilial
External Links Related to Amyloidosis, hereditofamilial: 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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