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)

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

Adenine phosphoribosyltransferase deficiency is an autosomal recessive purine enzyme defect that causes urolithiasis and, in severe cases, renal failure. Most homozygotes with this disorder were identified by analyses of excreted or surgically removed urinary stones, but some were identified only because they were family members of symptomatic individuals. We report here the detection of adenine phosphoribosyltransferase deficiency in two cases by routine analysis of urinary sediments. 2,8-Dihydroxyadenine-like spherical crystals were observed in the urinary sediment, and a diagnosis of homozygous adenine phosphoribosyltransferase deficiency was confirmed by cellular and molecular methods. A molecular diagnostic system using the polymerase-chain reaction and single-strand conformational polymorphism analysis proved to be a rapid and sensitive method to identify the APRT*J allele, a common mutant allele among the Japanese people. These methods will facilitate identification of symptomatic and asymptomatic individuals with homozygous adenine phosphoribosyltransferase deficiency.
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PMID:Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation. 882 2

Urolithiasis during pregnancy, though rare, can be challenging both diagnostically and therapeutically. It is helpful if the physician is quick to suspect the presence of stones in the presence of appropriate signs and symptoms, particularly flank pain and tenderness, hematuria, or unresolved bacteriuria. Ultrasonography is the diagnostic imaging method of choice, but modified intravenous urography should be performed whenever this study is necessary for a prompt diagnosis. In the absence of sepsis, renal failure, or intractable pain, conservative management with hydration, analgesics, and (if infection is present) antibiotics is the favored initial approach. If conservative management fails, stent insertion or placement of a percutaneous nephrostomy tube may be appropriate. Ureteroscopy with stone manipulation for distal ureteral stones during pregnancy has also been reported in some cases. If these methods fail, open surgery should be used for stone removal.
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PMID:Urinary calculi during pregnancy. When are they cause for concern? 885 87

Adenine phosphoribosyltransferase(APRT) deficiency is an autosomal recessive disorder and the homozygotes develop 2,8-dihydroxyadenine(DHA) urolithiasis and, in severe cases, renal failure. The prevalence is higher among the Japanese than other ethnic groups. So far 120 cases have been reported among the Japanese. The disease is classified into 2 types; type I and II are associated with complete and partial deficiencies, respectively. While all non-Japanese cases were of type I, about 78% of the Japanese patients were of type II. Each of the type II patients has at least one APRT*J allele with a ATG(Met) to ACG(Thr) base substitution at codon 136. All APRT*J alleles were derived from a single ancestor. All type I patients and some type II patients possess APRT*QO alleles with various point mutations or large gene abnormality. Type II patients tend to develop first symptoms later than the type I patients. The diagnoses of homozygotes and heterozygotes can be done by the cell culture methods. Both enzyme assay and molecular diagnostic methods are useful but not as reliable as the cell culture methods Excessive water intake, restriction of foods with high adenine contents and administration of allopurinol are useful treatments.
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PMID:[Adenine phosphoribosyltransferase(APRT) deficiency]. 897 13

We report on 24 children (10 girls) presenting with primary hyperoxaluria. The mean age at diagnosis was 6.3 years (range: 3 months-14.8 years). The mean interval between initial symptom and diagnosis was 1.3 year. The average follow-up period was 22 months (range: 1-60 months). At the time of diagnosis the renal function was normal in 6 children, moderately altered in 1 and severely in 17. During the follow-up the renal function remained stable in 6 patients, improved in 2, deteriorated in 4. The 12 patients with end-stage renal disease at diagnosis remained unchanged. Urolithiasis were present in all patients older than 2 years, and in 1 among the 5 infants. Medullary nephrocalcinosis was observed in 3 patients in whom the renal function was preserved. Diffuse nephrocalcinosis was present in all patients with end-stage renal failure. Improvement of renal function was secondary to stone removal in 2 patients. Extracorporeal shock wave lithotripsy performed in 7 patients was efficient only in 3. In 10 patients oxalate bone disease was correlated with both renal function and dialysis duration, whereas retinal involvement noted in 6 patients was not.
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PMID:[Primary hyperoxaluria: Tunisian experience apropos of 24 pediatric cases]. 918 35

Two unrelated patients of Pakistani origin presented with primary hyperoxaluria type 1 (PH1) at 4 months and 3 years of age, respectively. While the younger patient failed to thrive and suffered from early renal failure, the older one showed a relatively benign history with urolithiasis as the main feature of the disease. In both patients the diagnosis was confirmed by assessment of alanine:glyoxylate aminotransferase catalytic and immunoreactivity in liver biopsy specimens. The underlying genetic defect was found to be a combined deletion and insertion in exon 8 which alters the reading frame of the protein. The nucleotide change introduces a Stu1 restriction site which facilitated typing of additional family members. Both patients and a further affected brother were homozygous for this mutation, while their parents were heterozygous for it. This mutation is the first deletion/insertion identified in PH1. Although rare in our PH1 patient cohort (2.5% of alleles), the finding of 2 homozygous apparently unrelated individuals of the same ethnic origin suggests that it may prove worthwhile to screen other Asian patients for this mutation. These PH1 cases present further evidence that factors other than genotype contribute significantly to the clinical presentation and severity of PH1.
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PMID:Variable presentation of primary hyperoxaluria type 1 in 2 patients homozygous for a novel combined deletion and insertion mutation in exon 8 of the AGXT gene. 957 76

The lack of purine salvage enzyme, adenine phosphoribosyltransferase (APRT), is a rare genetic defect that leads to excessive excretion of 2,8-dihydroxyadenine in urine. Due to its low solubility and nephrotoxicity, the defect may result in urolithiasis and renal failure. This review article describes genetic, biochemical and biophysical basis of the disease called dihydroxyadeninuria, as well as clinical problems of diagnosis and treatment.
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PMID:[Phosphoribosyltransferase (APRT) deficiency--molecular and clinical aspects of dihydroxyadeninuria]. 960 33

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

Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive disorder characterised by an increased urinary excretion of calcium oxalate, leading to recurrent urolithiasis, nephrocalcinosis and accumulation of insoluble oxalate throughout the body (oxalosis) when the glomerular filtration rate falls to below 40-20 mL/min per 1.73 m(2). The disease is due to a functional defect of the liver-specific peroxisomal enzyme alanine: glyoxylate aminotransferase (AGT), the gene of which is located on chromosome 2q37.3. The diagnosis is based on increased urinary oxalate and glycollate, increased plasma oxalate and AGT measurement in a liver biopsy. AGT mistargeting may be investigated by immuno-electron microscopy and DNA analysis. End-stage renal failure is reached by the age of 15 years in 50% of PH1 patients and the overall death rate approximates 30%. The conservative treatment includes high fluid intake, pyridoxine and crystallisation inhibitors. Since the kidney is the main target of the disease, isolated kidney transplantation (Tx) has been proposed in association with vigorous peri-operative haemodialysis in an attempt to clear plasma oxalate at the time of Tx. However, because of a 100% recurrence rate, the average 3-year graft survival is 15%-25% in Europe, with a 5-10-year patient survival rate ranging from 10% to 50%. Since the liver is the only organ responsible for the detoxification of glyoxylate by AGT, deficient host liver removal is the first rationale for enzyme replacement therapy. Subsequent orthotopic liver Tx aims to supply the missing enzyme in its normal cellular and subcellular location and thus can be regarded as a form of gene therapy. Because of the usual spectrum of the disease, isolated liver Tx is limited to selected patients prior to having reached an advanced stage of chronic renal failure. Combined liver-kidney Tx has therefore become a conventional treatment for most PH1 patients: according to the European experience, patient survival approximates 80% at 5 years and 70% at 10 years. In addition, the renal function of survivors remains stable over time, between 40 and 60 mL/min per 1.73 m(2) after 5 to 10 years. In addition, liver Tx may allow the reversal of systemic storage disease (i.e. bone, heart, vessels, nerves) and provide valuable quality of life. Whatever the transplant strategy, the outcome is improved when patients are transplanted early in order to limit systemic oxalosis. According to the European experience, it appears that combined liver-kidney Tx is performed in PH1 patients with encouraging results, renal Tx alone has little role in the treatment of this disease, and liver Tx reverses the underlying metabolic defect and its clinical consequences.
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PMID:Combined liver-kidney transplantation in primary hyperoxaluria type 1. 1060 4

From the age of 31 a patient began to suffer from recurrent calcium oxalate urolithiasis. Liver biopsy showed a decrease in catalytic activity of the hepatic peroxisomal enzyme alanine: glyoxilate aminotransferase (AGT), which was mistargeted from peroxisomes to mitochondria. The genetic analysis revealed a mutation of the AGT gene. At age 47 he developed end-stage renal failure and underwent hemodialysis. After 12 months of hemodialysis he presented a rapidly declining clinical condition, a decrease of the residual renal function, a livedo reticularis with painful of extremities, and shortly thereafter a general weakness, which predominated on lower limbs. Apart from renal failure, routine biological examination and CSF were normal. Nerve conduction studies and electromyography supported the diagnosis of polyradiculoneuropathy. Pathological studies revealed mixed demyelinating-axonal lesions and deposits of calcium oxalate crystals within the media and the intima of epineural arterioles. A combined liver-kidney transplant was rapidly performed. The patient's condition improved in a few months and motor signs completely disappeared.
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PMID:[Polyradiculoneuropathy in an adult with primitive hyperoxaluria]. 1069 61


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