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Query: UMLS:C0451641 (urolithiasis)
 3,973 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The career of Birdwell Finlayson was distinguished by his continual efforts at casting problems he encountered in urolithiasis in terms of relevant physical theory. His extensive background in biophysics qualified him uniquely for this task. He employed a process called "strong inference" as much as possible; this process was derived from a 1964 essay by John R. Platt, and it appears repeatedly as a guiding principle in Finlayson's research.
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PMID:Strong inference in mechanistic urolithiasis: a tribute to Birdwell Finlayson's biophysical contributions. 200 15

Idiopathic hypercalciuria (IH) in adults is recognized as a cause of urolithiasis. If IH is symptomatic, the symptoms are hematuria, renal colic, or obstructive uropathy with or without infection. In children, IH has been linked to the spectrum of urinary symptoms including hematuria, pyuria, dysuria, recurrent urinary infections, abdominal or suprapubic pain, proteinuria, and the frequency-urgency syndrome. Hematuria may appear prior to the appearance of stones, and thiazide therapy appears to prevent stone formation by decreasing urinary calcium excretion. This report describes an older adolescent with hematuria and flank pain. His urinary chemistry values were not consistently typical of IH, but a thiazide trial with withdrawal challenge was diagnostic. His case is remarkable because, though essentially an adult, his disease was typical of prepubertal disease. Adolescents with unexplained urinary symptoms should be evaluated for IH. The urinary calcium-creatinine ratio may not be elevated, and timed urinary calcium may be equivocal. In some cases a thiazide trial may be valuable and cost effective.
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PMID:Atypical idiopathic hypercalciuria in an adolescent. 318 67

Two brothers, aged 16 and 11 years, had recurrent episodes of vomiting, diarrhoea and abdominal pain, starting in infancy. In spite of extensive investigations no cause of their enterocolitis could be established. After several years symptomatic treatment was discontinued without any recurrence of symptoms. Their father and several paternal relatives have had kidney stones. Both boys developed urolithiasis and an oxalate-containing stone was removed from the elder brother's kidney. He had no hypercalciuria. His glomerular and tubular function tests were normal. Gas chromatography of urine from both brothers revealed massive excretion of L-5-oxoproline (pyroglutamic acid). Glutathione levels in erythrocytes of both patients were normal. The activities of enzymes of the gamma-glutamyl cycle were analysed in erythrocytes, leukocytes and cultured skin fibroblasts. The level of glutathione synthetase was normal, as was the affinity of this enzyme for its substrate gamma-glutamyl-cysteine. Feedback inhibition of gamma-glutamyl-cysteine synthetase by glutathione was also normal. Both patients had a specific deficiency of 5-oxoprolinase, the activity of which was 2-4% of that of control subjects. Their parents had intermediate 5-oxoprolinase activities in fibroblasts, indicating a recessive mode of inheritance. Thus, 5-oxoprolinuria in these two patients was due to a lack of 5-oxoprolinase, i.e., a new inborn error in the gamma-glutamyl cycle.
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PMID:5-oxoprolinuria due to hereditary 5-oxoprolinase deficiency in two brothers--a new inborn error of the gamma-glutamyl cycle. 611 26

This 48-year-old male developed renal insufficiency, peripheral sensitivity to cold, occasional ventricular extrasystoles and atrio-ventricular block. He died suddenly after ventricular fibrillation. Autopsy showed extensive deposits of oxalate crystals in the kidney, myocardium, arterial walls of the extremities, and in many other visceral organs. The atrio-ventricular (A-V) node was also severely involved and marked fibrosis was found in the common A-V bundle (His) and in both bundle branches. The A-V node artery showed mural crystals and the lumen was narrowed by 50 per cent. Features supporting the diagnosis of primary oxalosis with cardiac manifestations include the onset of urolithiasis at 10 years of age, and 5 other siblings all having died of "renal disease" in infancy.
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PMID:Primary oxalosis with cardiac manifestations. 615 72

APRT deficiency is an enzyme disorder which is inherited as an autosomal recessive trait. The use of adenine in purine metabolism is disturbed and it accumulates in the body, where it is oxidised by xanthine oxidase to poorly insoluble 2, 8-dihydroxyadenine (DHA). The dihydroxyadenine forms stones which cause recurrent urolithiasis, frequent episodes of urinary tract infection or interstitial nephritis, and finally renal insufficiency in some cases. We report a case of APRT deficiency discovered by urine examination. The patient was a 33-year-old man who had never had any episodes of urolithiasis. He was admitted to our hospital because of pseudoarthrosis of his left arm caused by a traffic accident. His urinalysis revealed no proteinuria nor hematuria, but disclosed numerous round brown crystals in the sediment. These crystals had the characteristics of 2, 8-DHA. The enzyme activity of APRT in his blood was completely deficient. He was diagnosed as an APRT* QO homozygote. In addition, diagnostic imaging revealed that his right kidney was poorly hypoplastic and the pelvis of his left kidney was extra-renal. The renal function was slightly disturbed. In Japan 6 cases of 2, 8-DHA urolithiasis associated with hypoplastic kidney had been reported by 1989. Theoretically, the incidence of hypoplastic kidney is around 20% of all 2, 8-DHA urolithiasis cases. We suspect a genetic correlation between hypoplastic kidney and APRT deficiency. This patient was treated with Allopurinol, which inhibits the process of xanthine oxidation, after which crystals were no longer detected in his urine.
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PMID:[A case of adenine phosphoribosyltransferase (APRT) deficiency discovered by urine examination]. 781 52

We treated two children with 2,8-dihydroxyadenine urolithiasis for over 7 years. The male prepositus was admitted to the hospital because of anuria when he was 10 months old. Bilateral urinary stones had caused the anuria. The stones were 2,8-dihydroxyadenine and his APRT activity was low. He has been treated with about 5.0 mg/kg/day of allopurinol without purine diet restriction. His sister, 3 years old at that time, also was found to have a renal stone. She has been treated with about 3.3 mg/kg/day of allopurinol without restricting purine. The allopurinol therapy without purine-restriction resulted in normal growth of both children with neither the recurrence of stone nor renal impairment.
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PMID:[Two siblings with 2,8-dihydroxyadenine urolithiasis]. 786 62

A family (a brother and a sister) of the familidal isolated hyperparathyroidism (FIH) was reported. The older brother with age of 58 year-old was pointed out hypercalcemic while examining his hypertension and proteinuria. He had high levels of serum total and ionized calcium, intact-PTH and gastrin, and hypophosphatemia. His neck CT scan revealed swelling of the two parathyroid glands in each side. He underwent resection of the tumors and the auto-implantation of the glands under diagnosis of primary hyper parathyroidism. Histopathology was diagnosed to be hyperplasia of the parathyroid glands. The younger sister with age of 52 year-old was referred to our clinic because she was suffering from recurrent urolithiasis. Biochemical examination of her blood sampling resulted in very resemble values of her brother mentioned above. Her neck CT scan showed three tumors consisting of each one at the bilateral parathyroid glands and one in the thymic region. She underwent resection of the tumors and the auto-implantation of the glands and histopathological diagnosis was hyperplasia as same as her brother's one. The postoperative courses of these cases have been uneventful for four years. FIH is a low significant disease of which ten lineages have been reported in Japanese literature although it should be differentiate with such a disease of multiple endocrine neoplasms.
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PMID:[Familial isolated hyperparathyroidism: a report of two cases]. 1068 81

A 37-year-old small bowel transplant recipient with a history of urolithiasis was admitted for dysuria after passing a urinary stone. His laboratory evaluation showed increased blood urea nitrogen and creatinine. Urinalysis showed increased white blood cells and positive leukocyte esterase. A computed tomography scan revealed signs of urinary tract obstruction and prostatic enlargement. He failed to respond initially to empiric antibiotic treatment with ciprofloxacin and ampicillin sulbactam while waiting for culture results. The pathogen recovered from both urine and blood culture was subsequently identified as Nocardia asteroides complex. The isolate was sensitive to ceftriaxone and sulfa but resistant to ciprofloxacin. The patient improved on ceftriaxone and trimethoprim-sulfamethoxazole and completed a 6-month course without any relapse. Nocardia prostatitis is an uncommon infection and must be treated with a long course of antibiotics guided by susceptibility testing.
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PMID:Nocardia prostatitis in a small intestine transplant recipient. 1297 90

A rare case of pan-subepithelial dystrophic calcium deposition and bone marrow formation in hydronephrosis secondary to obstructive urolithiasis is reported and discussed. An elderly gentleman presented with accelerated hypertension, a nonfunctioning left kidney secondary to obstructive nephrolithiasis with additional pancalyceal calcification. His left retroperitoneoscopic nephrectomy specimen revealed sterile hydronephrosis secondary to an impacted ureteropelvic junction stone and pan-subepithelial fibrocalcific lamellar deposition. Special stains confirmed end-stage renal disease with chronic pyelonephritis with subepithelial dystrophic calcium deposition and evidence of bone marrow formation.
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PMID:'Porcelain kidney': case report and review of the literature. 2241 54

Urolithiasis leading to renal failure is a very common occurrence. But if the patient is co-infected with genitourinary tuberculosis, then it becomes all the more unusual and challenging, especially if the patient is immunocompetent. This patient, who presented to us with bilateral urolithiasis and features of renal failure, underwent left nephrectomy after thorough investigations. The biopsy revealed features of renal tuberculosis. The patient was put on anti-tubercular therapy (ATT) and later, he underwent right ureteroscopic lithotripsy. He completed his course of ATT and is on regular follow-up. His serum creatinine also stabilised with regular hemodialysis. The main aim of this case report is to bring to light this unusual and interesting presentation of bilateral urolithiasis with genito-urinary TB presenting as renal failure, which was successfully managed.
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PMID:Primary genito-urinary tuberculosis with bilateral urolithiasis and renal failure-an unusual case. 2381 47


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