Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018099 (gout)
 5,192 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Calculus formation in the renal transplanted patient is uncommon and usually represents a late complication of secondary hyperparathyroidism. A case report of a gouty patient with a transplanted cadaveric kidney is presented. The patient presented without hypercalcemia, or urinary infection, or renal tubular acidosis, or ureteral obstruction, or ingestion of antacids, or metabolic disease, or previous graft lithiasis. Five months after transplantation, a large stone within the renal pelvis was observed on an x-ray film. The radiotransparent nucleus, the patient's past history and the acute gouty arthritis he presented in the immediate postoperative period suggested that the nucleus of the calculus might be mainly composed of uric acid. These facts have drawn our attention to the control of the purine metabolism in the renal transplanted patients who have a past history consistent with gout.
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PMID:Staghorn renal stone in a transplanted kidney. 234 62

The clinical features and biochemical profile of 10 patients with Renal Tubular Acidosis (RTA) were described. The commonest mode of presentation was muscular weakness due to severe hypokalaemia in 5 patients while the other 5 presented with renal colic, haematuria or passage of gravel. Nine patients had nephrocalcinosis on X-rays and one had rickets. All the patients had Type I RTA, 2 of whom presenting initially with Incomplete Type I RTA which progressed to Complete Type I RTA. Two other patients had associated features of proximal tubular involvement evidenced by hypophosphatemia, hypouricemia, hyperphosphaturia, aminoaciduria and glycosuria. Six of the 10 patients had secondary RTA: 2 associated with medullary sponge kidneys, 2 with gout, 1 with idiopathic hypercalciuria and hyperuricosuria and the remaining patient with systemic lupus erythematosus.
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PMID:Renal tubular acidosis. 370 33

Methylmalonic acidemia (MMA) is an inborn error of metabolism caused by either deficiency of the enzyme methylmalonyl-CoA mutase or a defect in adenosyl-cobalamin synthesis. Chronic kidney disease is its common complication and, in combination with persistent acidosis, leads to hyperuricemia. Symptomatic hyperuricemia or gout, however, has not been reported in MMA. We herein report two pediatric cases of MMA caused by MMAB mutations (cblB defect) with renal tubular acidosis, chronic kidney disease, hyperuricemia, and gout. The clinical findings of gout in these cases included recurrent first metatarsophalangeal arthritis and/or tophi. The patients responded to treatment with colchicine and allopurinol.
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PMID:Juvenile gout in methylmalonic acidemia. 2695 25