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Disease Information for Hyperoxaluria, primary

Clinical Manifestations

Typical Clinical Presentation

Presentation/Recurrence same disease/renal transplant

Disease Progression

Course/Chronic disorder

Course/Chronic only

Demographics & Risk Factors

Past History

Past history/Kidney stone

Population Group

Child

Population/Pediatrics population

Sex & Age Groups

Population/Child

Population/Child-Infant Only

Population/Children/all

Laboratory Tests

Abnormal Lab Findings - Increased

URINE Oxalate

URINE Oxalic acid crystals

Diagnostic Test Results

CT Scan

CT/Dexa-Scan Bone density Abnormal

X-RAY

Xray/Joint abnormal

Xray/Joint cartilage calcification

Xray/Rugger Jersey/Vertebral endplate dense bands/Spine

Xray/Sclerotic metaphyseal bands/Skeletal

Xray/Skeletal findings

Xray/Spine Abnormal

Xray/Spine bone-within-bone findings

Xray/KUB Cortico-Medullary junction multiple stones

Associated Diseases & Rule outs

Associated Disease & Complications

Ischemia, cardiac

Kidney stone/Nephrolithiasis/Urolithiasis

Male osteoporosis syndrome

Nephrocalcinosis

Osteoporosis/osteopenia

Pathologic fractures

Ureterolithiasis/stone in ureter

Metabolic Bone Disease

Calcium Containing Kidney Stones

Disease Mechanism & Classification

Class

CLASS/Primary organ/system disorder (ex)

CLASS/Renal/kidney involvement/disorder (ex)

CLASS/Urologic (category)

Pathophysiology

Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)

Pathophysiology/Osteoporosis Secondary

Pathophysiology/Calcium containing kidney stone process

Pathophysiology/Hereditary disease renal effect

Pathophysiology/Renal manifestations/involvement

Pathophysiology/Secondary Renal Failure

Process

PROCESS/Enzyme defect/Metabolic disorder (ex)

PROCESS/Hereditofamilial (category)

PROCESS/INCIDENCE/Rare disease (ex)

PROCESS/Metabolic/storage disorder (category)

Definition

Either of two genetic disorders characterized by urinary excretion of large amounts of oxalate, with nephrolithiasis, nephrocalcinosis, early onset of renal failure, and often a generalized deposit of calcium oxalate, resulting from a defect in glyoxalate metabolism.

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External Links Related to Hyperoxaluria, primary

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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