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)

Inherited adenine phosphoribosyltransferase (APRT) has a recessive transmission. When it is very important, adenine can't be restored into nucleic acids pool and will changed into 2,8-dihydroxyadenine (2,8-DHA) by xanthine oxidase. To date in all countries but Japan, 2,8-DHA urolithiasis is observed only into homozygotic subjects with complete APRT deficiency Commonly, its onset is observed in childhood often dramatically. The authors report two new pediatric cases into new french families. First a 8 years old boy with spontaneous elimination of two lithiasis after right lumbar pain. Secondly an infant (nineteen months) who has presented an acute renal failure with anuria. Bilateral lithiasis included into pyelourectal junctions have been pulled out by bilateral surgical pyelotomy. In each case, lithiasis were radiolucent and diagnosis made by ultrasonography. The uric acid metabolism was normal and it is the infra red spectrophotometric study of stones that had recognised the 2,8-DHA component. In the second case, bilateral residual lithiasis have been broken by piezoelectric extra-corporeal lithotripsy with good tolerance and favorable result. The two children received preventive treatment. After 36 and 19 months they have no recurrence. In the literature, the frequency of 2,8-DHA lithiasis is very more low than the theoretical of homozygotics in population (1/100,000). The common confusion with uric lithiasis is one possible explanation. So spectrophotometric study of radiolucent stones was meant to be realised when uric metabolism is not disturbed.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[2,8-dihydroxyadenine lithiasis. 2 new pediatric cases of an unknown metabolic deficit. The use of extracorporal lithotripsy]. 238

Inherited adenine phosphoribosyltransferase (APRT) has a recessive transmission. When it is very important, adenine can't be restored into nucleic acids pool and will changed into 2,8-dihydroxyadenine (2,8-DHA) by xanthine oxydase. To date in all countries but Japan, 2,8-DHA urolithiasis is observed only into homozygotic subjects with complete APRT deficiency. Commonly, its onset is observed in childhood often dramatically. The authors report two new pediatric cases in two new french families. First a 8 year old boy with spontaneous elimination of two lithiasis after right lumbar pain. Secondly an infant (nineteen months) who has presented an acute renal failure with anuria. Bilateral lithiasis incluted into pyeloureteral junctions have been pulled out by bilateral surgical pyelotomy. In each case, lithiasis were radioluscent and diagnosis made by ultrasonography. The uric acid metabolism was normal and it is the infra red spectrophotometric study of stones that had recogniseed the 2,8-DHA component. In the second case, bilateral residual lithiasis have been broken by piezoelectric extracorporeal lithotrypsy with good tolerance and favorable result. The two children received permanent preventive treatment. After 36 and 19 months they have no recurrence. In the literature, the frequency of 2,8-DHA lithiasis is very more low than the theorical incidence of homozygotics in population (1/100,000). The common confusion with uric lithiasis is one possible explanation. So spectorophotometric study of radioluscent stones was meant to be realised when uric metabolism is not disturbed. Prevention associates alimentary diet without purins and permanent treatment by allopurinol (10 mg/kg/day in a child). Not used to date, piezo-electric extracorporeal lithotrypsy seems to take a place for treatment of initial, residual or recurrent 2,8-DHA lithiasis like for our young patient.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[2,8-dihydroxyadenine lithiasis. 2 new pediatric cases of this misdiagnosed metabolic abnormality. The value of extracorporeal lithotripsy]. 269 87

Ureteral calculi were found in 5 children who were receiving or had recently completed remission induction therapy for acute leukemia or lymphoma. All 5 patients had abdominal or back pain and 3 had gross hematuria. The diagnosis of urolithiasis was suggested by excretory urograms that showed obstructive uropathy (4 patients) and by computerized tomography scans that demonstrated ureterovesical obstruction (1 patient with acute renal failure and anuria). With a single exception the calculi were not associated with urinary tract infections. Chemical analyses in the 2 patients tested indicated that the stones were composed of calcium, in contrast to the uric acid and xanthine compositions of stones in earlier studies of patients with leukemia or lymphoma. Factors that might have predisposed our patients to calculi formation include corticosteroid therapy, immobilization owing to bed rest and urinary alkalization. Other possible contributing factors were urinary stasis (2 patients) and a familial tendency for renal calculi to develop. There was no evidence of idiopathic hypercalciuria in either patient tested. Prompt detection of urolithiasis in children undergoing induction chemotherapy for a malignant disease may avoid potentially serious consequences from urinary tract obstruction.
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PMID:Urolithiasis in childhood acute leukemia and nonHodgkin's lymphoma. 346 63

A 10-month-old female presented with anuria due to bilateral cystine urolithiasis. Although bilateral obstruction of the ureters by calculi is very rare in children, it may be the presenting feature of cystinuria even in the first year of life.
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PMID:Anuria due to bilateral cystine urolithiasis in an infant. 358 76

The problems and interactions of urolithiasis and monorenality are presented in a survey covering four essential parameters: --Urolithiasis as an indication for nephrectomy: One nephrectomy in four is performed because of urolithiasis. This rate of nephrectomy has not changed in the last 50 years. --Recidive urolithiasis in the residual kidney: Around 37% of all monorenal persons have a diseased single or residual kidney. On average one in four cases of residual kidney disease is caused by urolithiasis. This recidive calculus quota has also not significantly changed in recent decades. --Lethality of operations on the residual kidney: Urolithiasis is becoming almost the only indication for operating on a residual kidney; due to postrenal anuria, uraemia and urosepsis a large percentage of such operations are emergency operations under extremely unfavourable initial conditions. Despite the use of modern methods of medical treatment the lethality rate is for this reason still relatively high (7-15%). --Life expectancy of monorenals with urolithiasis: The life expectancy of monorenals with urolithiasis is clearly limited due to further complications (chronic pyelonephritis, hypertonia, urinary stasis and uraemia). It is therefore absolutely necessary for monorenal persons with urolithiasis to have intensive observation and urological treatment.
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PMID:[Urinary calculi and the single kidney]. 663 73

Urolithiasis in children is uncommon. We present the case of a 10-year-old boy with anuria resulting from an obstructing stone in the urethral meatus. There are no previously reported cases of pediatric urolithiasis presenting with anuria. We review urolithiasis in children, including predisposing factors, clinical features, stone composition, and natural history. The diagnosis may be confusing in younger children but should be considered with complaints of flank or abdominal pain, hematuria, and urinary tract infection.
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PMID:Urolithiasis in a child: an uncommon presentation of an uncommon disease. 775 11

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

We evaluated the stone recurrence rate and long-term renal function in 50 patients with a solitary kidney 60 to 84 months (mean 70.6) after unilateral nephrectomy for urinary tract stone disease. Followup evaluation included a detailed history, physical examination, blood and urine biochemistry studies, urinalysis, urine culture, excretory urography, ultrasonography of the kidney and 131iodine-ortho-iodohippurate renography. The overall stone recurrence rate in unilateral nephrectomy urolithiasis patients was 30% (15 of 50). The mean interval until stone recurrence was 31.1 months (range 6 to 74) and the mean episodes of recurrence were 2.1 times per patient (range 1 to 5). Function of the remnant kidney in most patients was unchanged during followup. However, 2 of the 15 patients with recurrent stones had anuria during the acute attack of renal colic and, thus, required percutaneous nephrostomy urinary diversion, while 1 had proteinuria (3 gm. per day) and progressive renal failure 47 months after nephrectomy. The metabolic stone patients seemed to experience recurrence more easily than metabolic stone patients seemed to experience recurrence more easily than infection stone patients (37% versus 13%) but no statistically significant difference was noted (p = 0.198).
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PMID:The long-term stone recurrence rate and renal function change in unilateral nephrectomy urolithiasis patients. 793 65

A nine-year-old female German shepherd dog was presented in severe renal failure. Clinical and ultrasonographic examination revealed the presence of adrenal neoplasia, bilateral hydroureter and hydronephrosis but no evidence of urolithiasis or bladder neoplasia. In the absence of anuria, therapy for the renal failure was attempted but the azotaemia did not improve. Remarkably, bilateral hydroureter appeared to have been induced by a past routine surgical procedure--ovariohysterectomy.
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PMID:Bilateral hydroureter and hydronephrosis in a nine-year-old female German shepherd dog. 1038 67

In this paper we describe the causes, patterns of presentation, and management of obstructive uropathy in Sudanese patients in a retrospective multi-center audit. All patients who presented with obstructive uropathy during 2005 were included in this study. All of the patients were subjected to serial investigations including imaging and tests of renal function. Diversion, stenting, and/or definitive surgery were performed in order to relieve the obstruction. Five hundred twenty patients were diagnosed with obstructive uropathy during this period; 345 (66%) patients presented with chronic obstruction and 175 (34%) with acute obstruction. Of the study patients, 210 (40%) presented with significant renal impairment; 50 (23%) of them required emergent dialysis. The patterns of clinical presentation of the obstructed patients included pain at the site of obstruction in 48%, lower urinary tract symptoms in 42%, urine retention in 36.5%, mass effect in 22%, and anuria in 4%. Patients in the pediatric age group constituted 4% of the total. The common causative factors of obstruction included congenital urethral valves, pelvi-ureteral junction obstruction, urolithiasis, and iatrogenic trauma, especially in the obstetric practice. Renal function was completely recovered with early management in 100% of patients with acute obstruction and was stabilized in 90% of patients with chronic obstruction. Four patients were diagnosed with end-stage renal failure; two of them were transplanted. The mortality rate in this study was less than 0.3%.
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PMID:Obstructive uropathy in Sudanese patients. 1697 Feb 66


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