Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0451641 (urolithiasis)
 3,973 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 46-year-old Japanese man with familial primary hyperoxaluria had been suffering from urolithiasis since the age of 6 years and had been treated by hemodialysis for 8 years before his death. The alpha-ketoglutarate glyoxylate carboligase and serine pyruvate transoxylase activities in the patient's liver had markedly decreased, indicating type I primary hyperoxaluria. Ocular tissues obtained at autopsy were studied immunohistochemically and histochemically. The ocular alterations were characterized by an unusual distribution of oxalate deposits, mainly located in the outer plexiform layer and the nuclear layer but not in the retinal pigment epithelium or in the vascularized layer of the sensory retina. These distributions of the oxalate deposits were determined to be unrelated to the blood vessels.
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PMID:Ocular histopathologic findings in a 46-year-old man with primary hyperoxaluria. 173 9

Hyperoxaluria is an important risk factor in patients who form calcium oxalate stones within the urinary tract. It occurs in patients with primary hyperoxaluria, enteric hyperoxaluria, and the syndrome of idiopathic calcium oxalate urolithiasis. In the latter condition, the specific causes of the hyperoxaluria are not well defined. Diet and the availability of calcium and oxalate from the diet within the intestine are important factors in the hyperoxaluria that is present in some of these patients with idiopathic calcium oxalate urolithiasis. Other abnormalities in endogenous metabolism or transport of oxalate may play a role in the hyperoxaluria in some of these patients.
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PMID:Diet and hyperoxaluria in the syndrome of idiopathic calcium oxalate urolithiasis. 200 1

It can be difficult to distinguish between primary hyperoxaluria at end-stage renal failure and secondary oxalosis, all the more as primary hyperoxaluria can be latent for a long time and occur at a late stage. A 57 year-old woman, without family nor personal history of urolithiasis, receives regular hemodialysis for a renal failure discovered at end-stage. Eighteen months later, calcium oxalate deposits appear in the skin, bone marrow and both kidneys, suggesting secondary oxalosis. An other 57 year-old woman presents a chronic renal failure due to bilateral urolithiasis, whose surgery has caused a dramatic decrease of renal function requiring regular hemodialysis. Because of apparition of severe bone alterations, a parathyroidectomy is realized, and because of calcium oxalate deposition in the skin and bone marrow, primary hyperoxaluria is suspected. In both observations, the enzyme activity determination in a liver biopsy gives the diagnosis of primary hyperoxaluria.
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PMID:[Adult type I primary hyperoxaluria: 2 cases confirmed by liver biopsy at end-stage renal insufficiency]. 207 21

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.
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PMID:Bone disease of primary hyperoxaluria in infancy. 268 79

Primary hyperoxaluria leading to calcium oxalate urinary stones and renal deposits occurs rarely in adults. We report three cases in whom end-stage renal failure was precipitated by urological surgery. In contrast, in one case renal stones were destroyed by extracorporeal shock-wave lithotripsy and renal function was not significantly altered. This emphasises the need for early diagnosis. This may not be easy in adult patients: urolithiasis may not be severe, radiological nephrocalcinosis may be lacking, and renal failure may develop late in life.
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PMID:Post-surgical deterioration of renal function in primary hyperoxaluria. 311 Jun 87

The increased production and excretion of oxalate in primary hyperoxaluria causes urolithiasis, nephrocalcinosis with renal failure, and systemic oxalosis. Systemic oxalosis occurs late in the course of the disease when there is both oxalate retention and increased oxalate synthesis. The uraemia can be controlled by conventional haemodialysis or peritoneal dialysis but treatment cannot usually keep up with accelerated rate of oxalate production, and dialysed patients develop systemic oxalosis. Most attempts to treat primary hyperoxaluria by renal transplantation have been unsuccessful because of rapid recurrence of nephrocalcinosis with uraemia and systemic oxalosis. Dynamic studies of overall oxalate metabolism in vivo have shown that the renal retention factor becomes a major determinant of oxalosis when the GFR decreases to less than 25 ml min-1 1.73 m-2. We conclude provisionally that vigorous haemodialysis should be begun and transplantation arranged when the GFR reaches this level. Such early transplantation with vigorous perioperative haemodialysis and a large perioperative diuresis of water gives good immediate graft function and oxalate mobilisation from the miscible oxalate pool. The longer term outlook is then influenced more by the factors which determine the success of renal transplantation in non-hyperoxaluric patients.
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PMID:Renal transplantation in primary hyperoxaluria. 331 61

All 25 infants with primary hyperoxaluria type I (PH) so far reported in detail (including one own observation) presented in renal failure (RF) whereas urolithiasis has conspiciously been absent. Diagnosis of PH was often delayed due to nonspecific symptoms of RF: Vomiting, anemia and severe metabolic acidosis. However, demonstration of increased renal echodensity at ultrasound examination should allow early diagnosis. A flecked retina has been noted in several infants. In contrast, our patient had black retinal pigmentations which have only once been reported in PH. Prognosis in untreated patients has so far been poor: 67% died within the first 6 months of life. It is likely that early diagnosis and treatment will improve prognosis in the future.
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PMID:Primary hyperoxaluria: an important cause of renal failure in infancy. 399 67

Six out of seven patients with primary hyperoxaluria showed various degrees of oxalosis. The radiographic manifestations differ between patients younger than 15 years and those older than 45 years. The mild manifestations in children, only urolithiasis, can be explained by the, as yet, unimpaired renal function. The renal function in the older patients, with extensive pathologic changes like nephrocalcinosis, urolithiasis, soft-tissue calcification, and osseous changes, is very poor. The findings of extensive soft-tissue calcification and the bony changes are not in complete agreement with those in the literature.
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PMID:Radiologic findings in primary hyperoxaluria. 707 78

The analysed material includes 100 children with urolithiasis treated in the Pediatric Clinic of the National Research Institute of Mother and Child in Warsaw between 1976 and 1978. Patients' age was from 3 months to 18 years. The analysed group included 51 boys and 49 girls. Urinary tract infection was found in 54 cases, i.e. 57,4% of the analysed material. The most common bacterial strains were those producing urease. They were detected in 48 children i.e. 88,9% of cases with urinary tract infection. Mostly these were bacteria of Proteus group--sporadically Pseudomonas aeruginosa and Staphylococcus albus. In the analysed patients urinary tract obstruction was observed in 36 children, i.e. 36% of cases. In 77% of the analysed material, localization of concrements was in upper urinary tract in 19% in the ureters and in 4% in the lover urinary tract. While in adult patients the most common compound of urinary stones was calcium oxalate, in children the most common stone compounds were phosphates (found in 38 cases i.e. 58,4% of the analysed material). The second frequent compound was oxalate found in 20 cases (30,7%). Less frequent compounds were uric acid and cystine. Performed study allowed to establish the cause of urolithiasis in 93 out of 100 examined children. Metabolic reasons of urolithiasis were found in 26 cases, i.e. 26% of the analysed material. They were as follows: idiopathic hypercalciuria--12 cases, uric acid urolithiasis--8 cases, primary hyperoxaluria--3 cases, cystinuria--2 cases, and incomplete acidosis of distal renal tubuli--1 case. Urolithiasis of probably metabolic origin was detected in 13 children (13%). Other reasons of urolithiasis in children were: infection (31%), idiopathic urolithiasis (17%) and others (6%). In 7 cases the reason of urolithiasis was not established.
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PMID:[Metabolic etiology of urinary calculi in children]. 717 91

59 children with urolithiasis were seen between 1969 and 1977 (8 1/2 years). Calculi from 50 patients were analyzed by X-ray diffraction. Half of the patients were 0-4 years old, and in this age group males greatly predominated (76%). Calculi in 26 patients were of infectious, and in 15 patients of metabolic origin (cystinuria 7, idiopathic hypercalciuria 5, primary hyperoxaluria 3), whereas 18 were idiopathic. Most infectious stones contained struvite, and most idiopathic stones contained calcium oxalate. An infectious etiology was observed in 55% of the 0-5-year-old children (n = 33), but in only 20% of the 10-16-year-old ones. In contrast, the percentage of idiopathic stones rose from 18% in the youngest to 70% in the oldest age group, although the absolute numbers were similar in all age groups, Childhood urolithiasis in Switzerland is thus primarily observed in young male patients and is usually secondary to a definable cause.
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PMID:Childhood urolithiasis. 745 Dec 34


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