Primary Hyperoxaluria in Children

Barratt, T. M.; Sperling, Vanessa von; Dillon, Michael J.; Rose, Geoffrey; Trompeter, Richard S.

doi:10.1007/978-1-4471-1626-4_6

Cited by 4 publications

(1 citation statement)

References 37 publications

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“…In primary hyperoxaluria type 1, kidney parenchyma (and pelvis/urinary tract) is damaged by the deposition of calcium oxalate (nephrocalcinosis and urolithiasis) (Barrat et al, 1988).…”

Section: Kidney Since Goldfischer Et Al's Studymentioning

confidence: 99%

Human peroxisomal disorders

Depreter

Espeel

Roels

2003

Microscopy Res & Technique

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Peroxisomes are single membrane-bound cell organelles performing numerous metabolic functions. The present article aims to give an overview of our current knowledge about inherited peroxisomal disorders in which these organelles are lacking or one or more of their functions are impaired. They are multiorgan disorders and the nervous system is implicated in most. After a summary of the historical names and categories, each having distinct symptoms and prognosis, microscopic pathology is reviewed in detail. Data from the literature are added to experience in the authors' laboratory with 167 liver biopsy and autopsy samples from peroxisomal patients, and with a smaller number of chorion samples for prenatal diagnosis, adrenal-, kidney-, and brain samples. Various light and electron microscopic methods are used including enzyme- and immunocytochemistry, polarizing microscopy, and morphometry. Together with other laboratory investigations and clinical data, this approach continues to contribute to the diagnosis and further characterization of peroxisomal disorders, and the discovery of novel variants. When liver specimens are examined, three main groups including 9 novel variants (33 patients) are distinguished: (1) absence or (2) presence of peroxisomes, and (3) mosaic distribution of cells with and without peroxisomes (10 patients). Renal microcysts, polarizing trilamellar inclusions, and insoluble lipid in macrophages in liver, adrenal cortex, brain, and in interstitial cells of kidney are also valuable for classification. On a genetic basis, complementation of fibroblasts has classified peroxisome biogenesis disorders into 12 complementation groups. Peroxisome biogenesis genes (PEX), knock-out-mice, and induction of redundant genes are briefly reviewed, including some recent results with 4-phenylbutyrate. Finally, regulation of peroxisome expression during development and in cell cultures, and by physiological factors is discussed.

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“…In primary hyperoxaluria type 1, kidney parenchyma (and pelvis/urinary tract) is damaged by the deposition of calcium oxalate (nephrocalcinosis and urolithiasis) (Barrat et al, 1988).…”

Section: Kidney Since Goldfischer Et Al's Studymentioning

confidence: 99%

Human peroxisomal disorders

Depreter

Espeel

Roels

2003

Microscopy Res & Technique

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Urinary oxalate and glycolate excretion in healthy infants and children

1990

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The molar ratios of oxalate and glycolate over creatinine were determined in single urine samples of 26 infants and 27 children aged 1-5 years. In 135 children aged 5-16 years, two urine specimens were collected, one before breakfast and one at noon. Oxalate was determined by oxalate oxidase, and glycolate was measured by a colorimetric method (improved chromatotropic acid--sulphuric acid assay after prior purification by cation and anion exchanger). Both ratios (expressed in mmol/mol creatinine and analysed on a log-normal basis) were highest in infants 0-6 months old [mean oxalate 147 (95% confidence interval: 60-360), mean glycolate 175 (72-425)]. The mean oxalate ratio was 72 mmol/mol (29-174) at the age of 7-24 months, 44 (19-101) at the age of 2-5 years and 22 (12-40) in adolescents aged 16 years. Molar glycolate ratios were higher, but disclosed the same pattern. Oxalate and glycolate ratios in fasting urines did not differ significantly from those in noon samples (except glycolate in the oldest age group). Oxalate ratios correlated well with glycolate ratios in children up to 5 years of age only. Random urine samples are thus suitable for screening. However, interpretation of data requires use of age-specific reference values that are based on comparable methods.

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