Cases reported "Hyperoxaluria, Primary"

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1/3. Partial deletion of the AGXT gene (EX1_EX7del): A new genotype in hyperoxaluria type 1.

    Primary hyperoxaluria type 1 (PH1) is a rare autosomal (2q37.3) recessive metabolic disease caused by a deficiency of the hepatic peroxisomal enzyme alanine:glyoxylate amino transferase. Molecular heterogeneity is important in PH1 as most of the patients (if the parents are unrelated) are compound heterozygotes for rare mutations. We describe the first large deletion in the AGXT gene, removing exons 1 to 7 (EX1_EX7del) that was responsible for one case of severe PH1. This 10 kb deletion was identified by Southern blotting of genomic dna digested by Xba I and hybridized with different exonic probes. Both parents (from turkey) are first cousin and carry the deletion. It is of note that the presently reported patient did not exhibit any AGT catalytic activity and even so, he progressed towards end-stage renal disease only at 19 years old.
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keywords = metabolic disease
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2/3. 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.
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keywords = metabolic disease
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3/3. hand manifestations of oxalosis.

    Oxalosis is an unusual metabolic disease that results either from an inherited hepatic enzyme deficiency or as the result of poor oxalate clearance during chronic hemodialysis. We present two cases of oxalosis and describe the hand manifestations of this condition and their treatment. One patient had painful, progressive gangrene, whereas in the other the disease took an indolent course with small palmar crystalline deposits.
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keywords = metabolic disease
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