1/15. Novel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donor.We identified a patient with primary hyperoxaluria type 2 (PH2) showing recurrent stone formation, nephrocalcinosis, end-stage renal failure, and rapid oxalate deposition after renal transplantation from a living related donor. Urinary organic acid analysis performed after renal transplantation confirmed the diagnosis of PH2. We analyzed the glyoxylate reductase/hydroxypyruvate reductase (GRHPR) gene of the patient. dna sequencing of all nine exons and exon-intron boundaries showed a novel homozygous mutation deleting the last two nucleotides of exon 8, ie, 862delTG. This deletion results in a frameshift and introduction of a premature stop codon at codon 310, ie, Ala310Stop. One of the patient's sisters is heterozygous for this mutation, and the other sister, who is the donor, does not have this mutation. The rapid deposition of oxalate in the transplanted kidney indicates that the kidney is not a major site of oxalate production. The more favorable long-term prognosis of PH2 needs to be reevaluated now that the molecular basis of PH2 has been established. dna-based diagnosis will facilitate carrier detection, prenatal diagnosis, genetic counseling, and selection of living related donors.- - - - - - - - - - ranking = 1keywords = nephrocalcinosis (Clic here for more details about this article) |
2/15. hyperoxaluria, nephrolithiasis, nephrocalcinosis and renal failure after massive resection of the small intestine: report of a case.hyperoxaluria is frequently seen in patients with inflammatory bowel disease, or after resection of the ileum. It is assumed to be responsible for the development of nephrolithiasis, nephrocalcinosis (oxalate nephrosis) and progressive renal impairment in these patients. steatorrhea may aggravate the severity of hyperoxaluria. A 60-year-old male underwent massive resection of the jejunum and ileum 10 years prior to admission, due to strangulation of the small bowel, with occlusion of the superior mesenteric artery. He remained well except for steatorrhea which developed two-and-a-half years prior to admission, when microhematuria, proteinuria and oxaluria developed progressively. Since that time, the nephrolithiasis, nephrocalcinosis and renal failure have continued to worsen despite therapy with oxalate restriction and oxalate-binding agents. A renal biopsy, performed late in the clinical course, showed severe changes in the renal parenchyma. The decline in renal function proved irreversible. The unusual metabolic consequences of massive resection of the small intestine and their mechanisms are discussed.- - - - - - - - - - ranking = 6keywords = nephrocalcinosis (Clic here for more details about this article) |
3/15. Acquired hyperoxaluria and haematuria in children.Two children with extensive ileal resection are reported. They developed gross haematuria of "non-glomerular origin", without stones or nephrocalcinosis. Previous reports indicate that acquired hyperoxaluria is common in children with a variety of intestinal disorders. Our patients had hyperoxaluria. We think that hyperoxaluria may be the cause of haematuria through a pathogenetic mechanism similar to the one ascribed to haematuria secondary to hypercalciuria and hyperuricosuria.- - - - - - - - - - ranking = 1keywords = nephrocalcinosis (Clic here for more details about this article) |
4/15. Unusual cause of acute renal failure in infancy.Acute renal failure due to intratubular obstruction is uncommon in infants. Two infants presenting with acute renal failure associated with acute gastroenteritis were found to have bilateral global nephrocalcinosis secondary to oxalosis.- - - - - - - - - - ranking = 1keywords = nephrocalcinosis (Clic here for more details about this article) |
5/15. Always look beyond the stones: hyperoxaluria overlooked.We report a case which demonstrates the disastrous consequences of late diagnosis of hyperoxaluria in a 24-year-old woman with nephrocalcinosis, a staghorn calculus and recurrent urinary tract infections. Her initial management at another hospital included multiple percutaneous nephrostomies and lithropsies. Metabolic screening was not undertaken. hyperoxaluria was finally diagnosed by elevated urine oxalate (1.235 mmol/24 h) and renal biopsy, by which time there was already significant reduction of renal function. A diagnosis of hyperoxaluria type I was confirmed by liver biopsy. Despite starting pyridoxine and crystallization inhibitors, her renal function deteriorated, requiring hemodialysis and she was referred for combined liver-renal transplantation. Clinical clues of primary hyperoxaluria type I are a positive family history or presentation with severe renal stones at an unusually early age. Irrespective of the above, all patients with first presentation of renal calculi should undergo metabolic screening, including urine oxalate.- - - - - - - - - - ranking = 1keywords = nephrocalcinosis (Clic here for more details about this article) |
6/15. Late presentation and development of nephrocalcinosis in primary hyperoxaluria.A case of primary hyperoxaluria type 1 with complete deficiency of alanine:glyoxalate aminotransferase that first manifested at the age of 59 with irreversible acute on chronic renal failure is reported. nephrocalcinosis, initially absent, developed rapidly after renal failure evolved. The possible role of hypovolaemia and contrast nephrotoxicity in precipitating the clinical onset is discussed. Primary hyperoxaluria should be considered in patients of any age presenting with unexplained renal failure, and appropriate systemic pathology of oxalosis.- - - - - - - - - - ranking = 4keywords = nephrocalcinosis (Clic here for more details about this article) |
7/15. recurrence of nephrocalcinosis after renal transplantation in an adult patient with primary hyperoxaluria type I.The medical history of a 42-year-old patient with primary hyperoxaluria type I is presented. Primary hyperoxaluria was suspected after renal transplantation, when oxalate deposits were found in a biopsy of the kidney graft. Diagnosis of type I hyperoxaluria was confirmed by the finding that significantly increased amounts of glycolic acid and oxalic acid were excreted. Treatment of the patient with 500 mg pyridoxine daily resulted in a decrease of the excretion of oxalate to normal values.- - - - - - - - - - ranking = 4keywords = nephrocalcinosis (Clic here for more details about this article) |
8/15. Late presentation and microcrystalline arthropathy in primary hyperoxaluria.A 66 year-old woman was referred in 1981 because of renal insufficiency and pronounced nephrocalcinosis. The urinary oxalate excretion was elevated. Secondary hyperoxaluria was excluded. End-stage renal disease necessitated hemodialysis from late in 1982 up to her death in 1986, at the age of 71 years. During the course of the disease, an aggressive arthropathy developed in the fingers. Classical signs of oxalosis were found: deposits of calcium oxalate crystals in bone tissue, the pancreas, myocardium, subcutaneous tissue and especially in the kidneys. This rare case documents the possible occurrence of late clinical presentation and long survival in primary oxalosis.- - - - - - - - - - ranking = 1keywords = nephrocalcinosis (Clic here for more details about this article) |
9/15. Bone disease of primary hyperoxaluria in infancy.A patient with primary hyperoxaluria type I in infancy is reported. He had renal insufficiency, but urolithiasis was absent. Demonstration of diffuse nephrocalcinosis by renal ultrasound contributed to early diagnosis. Prolonged survival leads to extensive extrarenal oxalate deposition. Repeated skeletal surveys showed the development and the progression of severe hyperoxaluria-related bone disease. Translucent metaphyseal bands with sclerotic margins, wide areas of rarefaction at the ends of the long bones, and translucent rims around the epiphyses and the tarsal bones were signs of disordered bone growth. bone density generally increased with time indicating progressive sclerosis due to oxalate deposition in the previously normal bone structure.- - - - - - - - - - ranking = 1keywords = nephrocalcinosis (Clic here for more details about this article) |
10/15. Periodontal manifestations of hyperoxaluria and oxalosis.Dental and periodontal findings associated with primary hyperoxaluria in a 29-year old male patient are described. This is a rare, inherited, metabolic disease which results in excessive calcium oxalate synthesis. The predominant and early manifestation of hyperoxaluria is nephrocalcinosis which results in chronic renal failure. Widespread extrarenal deposits of calcium oxalate crystals, however, is a consistent finding. Extensive infiltration of crystals was noted in the pulps of the teeth, in the marrow spaces of the alveolar bone, in the gingival corium, and in the periodontal ligament. Crystalline calcium oxalate deposits in the periodontal ligament provoked a granulomatous foreign-body reaction. This resulted in aggressive external root resorption leading to pulp exposure and tooth mobility.- - - - - - - - - - ranking = 1keywords = nephrocalcinosis (Clic here for more details about this article) |
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