Bone disease of primary hyperoxaluria in infancy

Ring, E; Wendler, H; Ratschek, Manfred; Zobel, G

doi:10.1007/bf02010661

Cited by 13 publications

(9 citation statements)

References 15 publications

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“…Characteristics of oxalate osteopathy on X-ray include dense metaphyseal bands, submarginal metaphyseal lucency, sclerosis of adjacent diaphysis, cystic bone changes, deformities, subperiosteal resorption, blurred trabecular pattern, radio-opaque rims in flat bones and epiphyseal nuclei, as well as increased bone density in vertebra and iliac crest [21, 22]. Symmetrical transverse lines of increased bone density at areas of rapid growth have been related to crystalline precipitation in cartilage calcification sites as well as in hematopoietic and other highly vascularized areas [23, 24]. Bone biopsies from the iliac crest can show specific features: oxalate crystals often surrounded by a granulomatous reaction corresponding to an invasion of bone surface by macrophages [20].…”

Section: Clinical Features and Oxalate Burdenmentioning

confidence: 99%

Primary Hyperoxaluria

Harambat

Fargue

Bacchetta

et al. 2011

International Journal of Nephrology

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Primary hyperoxalurias (PH) are inborn errors in the metabolism of glyoxylate and oxalate. PH type 1, the most common form, is an autosomal recessive disorder caused by a deficiency of the liver-specific enzyme alanine, glyoxylate aminotransferase (AGT) resulting in overproduction and excessive urinary excretion of oxalate. Recurrent urolithiasis and nephrocalcinosis are the hallmarks of the disease. As glomerular filtration rate decreases due to progressive renal damage, oxalate accumulates leading to systemic oxalosis. Diagnosis is often delayed and is based on clinical and sonographic findings, urinary oxalate assessment, DNA analysis, and, if necessary, direct AGT activity measurement in liver biopsy tissue. Early initiation of conservative treatment, including high fluid intake, inhibitors of calcium oxalate crystallization, and pyridoxine in responsive cases, can help to maintain renal function in compliant subjects. In end-stage renal disease patients, the best outcomes have been achieved with combined liver-kidney transplantation which corrects the enzyme defect.

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Section: Clinical Features and Oxalate Burdenmentioning

confidence: 99%

Primary Hyperoxaluria

Harambat

Fargue

Bacchetta

et al. 2011

International Journal of Nephrology

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“…The parenchyma is markedly hyperechoic, and there is acoustic shadowing and a lack of cortico-medullary differentiation (6). As is known, echogenic kidney in infants should be taken as a clue for early diagnosis (3,11). Renal US of our patients showed homogeneously hyperechoic normal-sized kidneys, with no cortico-medullary patients had a convulsion.…”

Section: Discussionmentioning

confidence: 54%

Systemic Oxalosis in Infants: Two Cases and Literature Review

Gündüz¹,

Baştuğ²,

Tülpar³

et al. 2013

Turk Neph Dial Transpl

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The infantile form of primary hyperoxaluria is a very rare disease and often presents as a lifethreatening condition because of rapid progression to end-stage renal disease and systemic oxalosis. We described two infants with primary hyperoxaluria type 1 (PH1). Persistent severe hyponatremia and hypoalbuminemia were noted in both patients and cerebral and pulmonary involvements of systemic oxalosis were suspected in one patient. Such a severe phenotype of infantile PH1 is an important ﬁ nding that should be added to the list of manifestations of PH1

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“…Under X-ray, characteristics of oxalate osteopathy include dense metaphyseal bands, submarginal metaphyseal lucency, sclerosis of adjacent diaphysis, cystic bone changes, deformities, subperiosteal resorption, blurred trabecular pattern, and increased bone density in vertebra and iliac crest [17][18][19]. Symmetrical transverse lines of increased bone density at areas of rapid growth have been related to crystalline precipitation in cartilage calcification sites as well as in hematopoietic and other highly vascularized areas [17,[20][21][22].…”

Section: Conventional Radiological Evaluation Of Patients With Ph1mentioning

confidence: 99%

Bone impairment in primary hyperoxaluria: a review

2015

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Deposition of calcium oxalate crystals in the kidney and bone is a hallmark of primary hyperoxaluria (PH). Since the bone compartment can store massive amounts of oxalate, patients present with recurrent low-trauma fractures, bone deformations, severe bone pains, and specific oxalate osteopathy on X-ray. Bone biopsy from the iliac crest displays specific features such as oxalate crystals surrounded by a granulomatous reaction corresponding to an invasion of bone surface by macrophages. The objective of this manuscript is therefore to provide an overview of bone impairment in PH, by reviewing the current literature on bone and dental symptoms as well as imaging techniques used for assessing bone disease.

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Bone disease of primary hyperoxaluria in infancy

Cited by 13 publications

References 15 publications

Primary Hyperoxaluria

Primary Hyperoxaluria

Systemic Oxalosis in Infants: Two Cases and Literature Review

Bone impairment in primary hyperoxaluria: a review

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