Abstract
Primary hyperoxaluria is a rare genetic disorder characterized by oxalate overproduction, leading to kidney failure due to nephrocalcinosis, and is eventually responsible for systemic oxalosis. Bone impairment, secondary to oxalate deposits, is one of the many complications that may occur. Skeletal involvement can be difficult to diagnose because of lack of clinical symptoms and therefore needs to be confirmed by invasive testing, such as transiliac bone biopsy. If confirmed, bone oxalosis is the proof of disease severity and that combined liver-kidney transplantation should be performed.
Keywords:
Bone biopsy; Histomorphometry; Primary hyperoxaluria; Systemic oxalosis.
Copyright © 2017. Published by Elsevier Masson SAS.
MeSH terms
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Adult
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Biopsy
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Bone Density
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Calcium Oxalate / metabolism*
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Calcium Oxalate / urine
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Humans
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Hyperoxaluria, Primary / drug therapy
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Hyperoxaluria, Primary / genetics
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Hyperoxaluria, Primary / metabolism*
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Hyperoxaluria, Primary / urine
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Ilium / cytology
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Ilium / diagnostic imaging
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Ilium / pathology*
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Kidney Failure, Chronic / metabolism
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Kidney Failure, Chronic / therapy
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Kidney Transplantation
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Male
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Microradiography
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Nephrocalcinosis / diagnostic imaging
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Nephrocalcinosis / genetics
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Nephrocalcinosis / metabolism*
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Nephrocalcinosis / urine
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Osteoblasts / pathology
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Pyridoxine / therapeutic use
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Renal Dialysis
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Transaminases / genetics
Substances
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Calcium Oxalate
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Transaminases
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Alanine-glyoxylate transaminase
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Pyridoxine
Supplementary concepts
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Primary hyperoxaluria type 1