Gout, uric acid and purine metabolism in paediatric nephrology

  title={Gout, uric acid and purine metabolism in paediatric nephrology},
  author={John Stewart Cameron and F. Moro and H. Anne Simmonds},
  journal={Pediatric Nephrology},
Although gout and hyperuricaemia are usually thought of as conditions of indulgent male middle age, in addition to the well-known uricosuria of the newborn, there is much of importance for the paediatric nephrologist in this field. Children and infants may present chronically with stones or acutely with renal failure from crystal nephropathy, as a result of inherited deficiencies of the purine salvage enzymes hypoxanthine-guanine phosphoribosyltransferase (HPRT) and adenine… 
Hereditary hyperuricemia and renal disease.
Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutation
An 18-year follow-up of a 5-year old boy with partial HPRT deficiency is described and a novel mutation in his H PRT gene is reported, named the mutant HPRt Maribor.
Familial renal disease or familial juvenile hyperuricaemic nephropathy?
The biochemical hallmark is hyperuricaemia resulting from a grossly reduced FE ur , but gout is a variable finding, which highlights the unusual nature of the dominant disorder affecting young men, women and children equally.
Nephrocalcinosis and urolithiasis in children.
Early treatment reducing urinary saturation of the soluble by increasing fluid intake and by providing crystallization inhibitors, as well as disease-specific medication, are mandatory to prevent recurrent kidney stones and/or progressive nephrocalcinosis, and consequently deterioration of renal function.
Genetics of Hypercalciuric Nephrolithiasis
Studies of monogenic forms of hypercalciuric nephrolithiasis in man have provided valuable insights into the renal tubular pathways that regulate calcium re absorption and predispose to kidney stones and bone disease.
Recurrent Xanthine Stones in a Young Patient with Lesch-Nyhan Syndrome.
Therapy for Lesch-Nyhan syndrome consists of reduction of uric acid achieved through allopurinol, however, excess allopURinol dosing can lead to development of xanthine kidney and bladder stones.
Uric Acid Nephrolithiasis: Basic and Clinical Aspects
Of the kidney-stone-forming population, 8–10 % are comprised of uric acid nephrolithiasis, and it is plausible that the lack of aninhibitoror the presence of apromoterof stone formation may play a role in uric Acid nephrotoxicity.
Pathophysiology, Clinical consequences, Epidemiology and Treatment of Hyperurecemic gout
Present attempt has been made to summarize the pathophysiology, clinical consequence, epidemiology and conventional treatment of hyperurecemic gout.
Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report
Pediatricians treating patients with Lesch-Nyhan syndrome and Factor V Leiden should be aware of these rare conditions and promptly manage the potential complications that may require medical or surgical intervention.


Purine enzyme defects as a cause of acute renal failure in childhood
The combined experience in these two disorders underlines the importance of early recognition and treatment with carefully adjusted doses of allopurinol, which may reverse or postpone renal failure.
Uric acid nephropathy.
Although hyper-uricemia is seen most commonly in association with acute and chronic leukemias, lymphomas, myeloma, and the myeloproliferative syndromes, it is also noted with increasing frequency in patients with nonhematologic malignancy.
Familial nephropathy with hyperuricemia and gout.
It is speculated that the family of 2 girls and their mother who suffered from gout since the age of 20 years suffers from a primary interstitial nephropathy which is accompanied by a subtle defect in tubular excretion of urate.
Precocious familial gout with reduced fractional urate clearance and normal purine enzymes.
The results confirm that young men and women with gout-or hyperuricaemia disproportionate to the renal dysfunction-should always be investigated, not only for purine defects, but also for abnormalities of renal urate handling.
A case of familial renal hypouricemia associated with increased secretion of para-aminohippurate and idiopathic edema.
A 42-year-old housewife with hypouricemia was unable to increase urinary excretion of sodium during hypertonic saline infusion and failed to change the response to the sodium-retaining action of 9 alpha-fluorohydrocortisone, presumably accounting for her edema.
2,8-Dihydroxyadenine lithiasis.
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There is great variation in the capacity of urine of various pHs to dissolve uric acid, and the toxicity of and the pathological changes caused by uric Acid are entirely the consequences of its insolubility.