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

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

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

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

Adolescent ; Humans ; Hyperoxaluria, Primary ; diagnostic imaging ; Male ; Nephrocalcinosis ; diagnostic imaging ; Radiography

Adolescent ; Adult ; Female ; Humans ; Hyperoxaluria, Primary ; diagnosis ; etiology ; Kidney Transplantation ; adverse effects ; Male ; Recurrence

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

Primary hyperoxaluria is a rare disorder of glyoxylate metabolism in which hepatic enzyme deficiencies result in overproduction of oxalate. The resulting elevation of urinary oxalate excretion leads to recurrent urolithiasis and progressive nephrocalcinosis. End-stage renal disease frequently occurs and is accompanied by systemic oxalate deposition along with its harmful effects. With the rarity and various clinical heterogeneity of the disease, the high proportion of patients in whom diagnosis is made after advanced renal failure have developed it. On account of its high rate of graft loss associated with primary hyperoxaluria, isolated kidney transplantation has been replaced by combined liver/kidney transplantation. In this report, we describe a case of primary hyperoxaluria with kidney graft failure who had a history of recurrent renal stones.
Glyoxylates ; Humans ; Hyperoxaluria, Primary ; Kidney ; Kidney Failure, Chronic ; Kidney Transplantation ; Nephrocalcinosis ; Population Characteristics ; Renal Insufficiency ; Transplantation, Homologous ; Transplants ; Urolithiasis

Adolescent ; Diagnosis, Differential ; Humans ; Hyperoxaluria, Primary ; diagnosis ; Knee ; diagnostic imaging ; Lumbar Vertebrae ; diagnostic imaging ; Male ; Patella ; diagnostic imaging ; injuries ; Radiography