No abstract available.
Humans ; Hyperoxaluria, Primary* ; Infant* ; Male*

No abstract available.
Hyperoxaluria, Primary* ; Kidney Transplantation* ; Kidney*

Adult ; Humans ; Hyperoxaluria, Primary ; enzymology ; genetics ; Male ; Transaminases ; deficiency

A 49-year-old woman visited the clinic because of acute hepatitis and acute kidney injury with decreased urine output presenting microscopic hematuria and proteinuria. An abdominal computed tomography revealed a localized, hypoattenuated lesion in a hepatic lateral segment, and kidney biopsy showed oxalate crystal deposition with tubular necrosis. In addition, the patient's 24-hour urinary excretion of oxalate was increased. Her kidney and liver injury improved after sessions of hemodialysis, and urinary oxalate excretion was normalized. Major mutations in primary hyperoxaluria have not been proven. A full sequencing of target genes may be helpful to diagnose a rare form of primary hyperoxaluria.
Acute Kidney Injury ; Biopsy ; Female ; Hematuria ; Hepatitis ; Humans ; Hyperoxaluria* ; Hyperoxaluria, Primary ; Kidney* ; Liver* ; Middle Aged ; Necrosis ; Proteinuria ; Renal Dialysis

Primary hyperoxaluria is a rare autosomal recessive inherited metabolic disease which results from endogenous overproduction of oxalic acid. It causes variant phenotypes from renal failure in infancy to mere urolithiasis in late adulthood. We report a case of primary hyperoxaluria in a 11-year-old boy. He presented with recurrent multiple renal stones since 3 years of age. He had renal failure and markedly increased hyperoxaluria (568.26 microgram/mg of creatinine (normal: 0.04-0.15)) and his stones consisted of a mixture of calcium oxalate (30%) and calcium phosphate (10%) in contrast to pure calcium oxalate monohydrate in the other primary hyperoxaluria type 1 patients. A renal biopsy showed interstitial cellular infiltration with crystals which are birefringent under polarized light within the tubules. His general conditions were improved after hemodialysis treatment. For definite cure of disease, combined liver-kidney transplantation is considered.
Biopsy ; Calcium ; Calcium Oxalate ; Child ; Creatinine ; Humans ; Hyperoxaluria ; Hyperoxaluria, Primary* ; Kidney Failure, Chronic* ; Male ; Metabolic Diseases ; Nephrolithiasis ; Oxalic Acid ; Phenotype ; Renal Dialysis ; Renal Insufficiency ; Urolithiasis

The infant (a girl aged 6 months) was admitted to the hospital because of oliguria and acute renal dysfunction. The laboratory examination results showed serious metabolic acidosis and increased blood urea nitrogen and serum creatinine levels. The patient continued to be anuric after 10 days of treatment with continuous renal replacement therapy (CRRT). she died a day later. The family history showed that the patient's sister died of acute renal failure 6 months after birth. The genomic sequencing results showed AGXT mutation in the patient and confirmed the diagnosis of primary hyperoxaluria type 1 (PH1). Her parents were heterozygous carriers. PH1 should be considered when the children have abnormal renal function or recurrent renal calculi or have a family history of these symptoms. AGXT gene analysis is an important method for PH1 diagnosis.
Acute Kidney Injury ; etiology ; Female ; Humans ; Hyperoxaluria, Primary ; complications ; Infant ; Mutation ; Oliguria ; etiology ; Transaminases ; genetics

BACKGROUNDIdiopathic hyperoxaluria (IH) may be caused by increased endogenous formation or exogenous absorption of oxalic acid. Characterization of the molecular pathogenesis of IH has been hampered by the lack of an ideal animal model. We therefore established a stabile rat IH model in order to analyze variation in gene expression profile in the jejunum and to investigate the association between IH pathogenesis and exogenous absorption of oxalic acid.

METHODSA rat model of IH was established and three female rats with IH were assigned to the study group, while three normal rats served as controls. Total RNA was isolated from the jejunum of rats in the two groups and mRNA was purified, reversely transcribed, labeled with Cy5 or Cy3 and hybridized to 27K Rat Genome Array. Differences in gene expression profile between the 2 groups were analyzed by bioinformatics methods.

RESULTSComparative analysis revealed that the expression of 517 genes was up-regulated and that of 203 genes was down-regulated by at least two-fold in the jejunum of rats with idiopathic hyperoxaluria. These genes are related to many functions including cell signal transduction, DNA binding and transcription, ATP binding, ion binding and transport, cell receptors, immunity, cyclins, cytoskeleton structure, and metabolic proteins. Kyoto encyclopedia of genes and genomes (KEGG) signaling pathway analysis revealed that the variations of 239 pathway functional changes are statistically significant (P < 0.05).

CONCLUSIONScDNA microarray can be used effectively to screen differentially expressed genes in the jejunum of rats with idiopathic hyperoxaluria. These differentially expressed genes may underlie idiopathic hyperoxaluria pathophysiology and provide a platform for further studying molecular pathogenetic mechanisms.

Animals ; Female ; Hyperoxaluria ; genetics ; metabolism ; Jejunum ; metabolism ; Oligonucleotide Array Sequence Analysis ; Rats ; Rats, Sprague-Dawley

PURPOSE: The metabolic parameters were compared with the 1st episode calcium oxalate urolithiasis in 3 age groups and according to gender. MATERIALS AND METHODS: A total of 167 patients (114 male and 53 female) with their 1st episode calcium oxalate urolithiasis, including 21 patients aged <30 years (group A), 99 aged 30-59 years (group B) and 47 aged 60 years (group C), were investigated by metabolic evaluation. The items of metabolic change evaluated were the low 24-hour urine volume (<1,500cc), hypercalciuria, hyperoxaluria, hyperuricosuria and hypocitraturia. RESULTS: A low 24-hour urine volume was more common in group A (46.6%) than groups B (24.2%) or C (23.4%). Hypercalciuria was more common in group B (16.2%, p<0.05) than groups A (0%) or C (2.1%). There were 14.3% hyperoxaluric patients in group A and 34.3% in group B, which was statistically significant (p<0.05). Of the 167 patients, 101 had hypocitraturia, but seemed to show no statistically significant difference between the groups. Hyperuricosuria was more common in group A (33.3%) than groups B (11.1) or C (2.1%). CONCLUSIONS: In patients with 1st episode calcium oxalate urolithiasis, hypocitraturia is the most common risk factor, regardless of age or gender. Hypercalciuria was more common in group B (age 30-59) than the other age groups, while low urine output and hyperuricosuria were more common in group A (age<30). Considering the significant differences in the various risk factors between the different age groups, the specific prevention and treatment of certain risk factors for calculus formations according to age and gender seem necessary.
Calcium Oxalate ; Calculi ; Citric Acid ; Humans ; Hypercalciuria ; Hyperoxaluria ; Male ; Risk Factors* ; Urolithiasis*

We experienced a case of acute renal failure by oxalate poisoning in a 44-year-old Korean woman. She presented with hematemesis and epigastric pain after drinking of oxalate in a suicidal attempt. After admission, acute renal failure was developed and the patient was treated with hemodialysis. On renal biopsy, there were numerous calcium oxalate crystals which appeared clearly in Hematoxylin-eosin stained sections and were refractile under polarized light microscope. We report a case of acute renal failure by oxalate poisoning with review of the literature.
Acute Kidney Injury* ; Adult ; Biopsy ; Calcium Oxalate ; Drinking ; Female ; Hematemesis ; Humans ; Hyperoxaluria ; Poisoning* ; Renal Dialysis

We report on a patient with bilateral multiple renal stones after resection of the small intestine for the idiopathic necrotizing enteritis. She had no history of renal stone. Gross hematuria occurred 1 year after the operation and bilateral renal and ureteral stones with bilateral hydronephrosis were found. History and laboratory findings (low serum and 24 hour urine calcium levels) were suggestive of renal stones by hyperoxaluria. She was managed by oral hydration, low oxalate and low fat diet, urine alkalization with sodium bicarbonate and calcium supplement. Until now, there is no evidence of new stone formation and enlargement of stones.
Calcium ; Diet ; Enteritis ; Hematuria ; Humans ; Hydronephrosis ; Hyperoxaluria ; Intestine, Small* ; Sodium Bicarbonate ; Ureter