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

A retrospective study of 32 adult patients undergoing ureteric reimplantation for reflux has been carried out. Reflux and reimplantation in relation to urolithiasis, pregnancy, renal failure, hypertension and bladder neck obstruction have been discussed. Eighty-four per cent of patients with primary reflux had pyelonephritic scarring compared with only 34% of patients where reflux was secondary. Reimplantation has been technically successful in preventing reflux in every patient in this series, with 18 patients (65%) becoming symptom free. Pyelonephritis, hypertension and renal failure were not significantly improved but no progressive changes were observed in the follow-up period after reimplantation.
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PMID:Ureteric reimplantation for vesico-ureteric reflux in the adult. 75 67

Adenine phosphoribosyltransferase (APRT) deficiency causes 2,8-dihydroxyadenine(DHA) urolithiasis and renal failure. Recently, two different common mutations were identified; one was APRT* J with a substitution of ACG for ATG at codon 136, called "Japanese-type", another was APRT* Q0 with TGA for TGG at codon 98. Approximately 98% of all Japanese patients with this disorder have been estimated to have these mutations APRT* J (approximately 80%) and/or APRT*Q0 (approximately 20%). We developed a diagnostic method to detect these genotypes. After gene amplification by PCR, target DNA was hybridized with a biotinylated specific probe in the presence of the non-labelled competitive probe on a dot-blotted membrane. To detect the APRT* J (or APRT* Q0) mutation, the biotinylated APRT* J (or APRT* Q0) probe and non-labelled normal probe for the same region were used as specific and competitive probes, respectively. After incubation at 60 degrees C for 30 min, the temperature was gradually decreased from 60 degrees C to 40 degrees C during 120 min, and then incubation was continued at 40 degrees C for 30 min. By using method, we were able to omit the posthybridization process, and the detecting signal was clear and highly specific. This method is useful for detecting point mutations in other genes.
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PMID:[Detection of the mutation responsible for adenine phosphoribosyltransferase deficiency among Japanese patients]. 130 10

Calcium phosphate urolithiasis and bilateral renal dysplasia was diagnosed in an 8-week-old Border Terrier with a history of urine dribbling, which had been observed from the time of birth. Most reported cases of calcium phosphate urolithiasis are secondary to hypercalcemic disorders, but this was not detected. In addition, despite renal dysplasia, there was no evidence of renal failure. After cystotomy and calculus removal, the dog has remained clinically normal.
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PMID:Calcium phosphate urolithiasis and renal dysplasia in a young dog. 161 88

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

Homozygous deficiency of a purine salvage enzyme, adenine phosphoribosyltransferase (APRT), causes urolithiasis and renal failure. There are two known types of homozygous APRT deficiencies; type I patients completely lack APRT activity while type II patients only partially lack such activity. All type II patients possess at least one APRT*J allele with a substitution from ATG (Met) to ACG (Thr) at codon 136. Type I patients are considered to possess two alleles (APRT*Q0) both of which code for complete deficiencies. Thus, some patients with type II APRT deficiencies may have a genotype of APRT*J/APRT*Q0. As no individuals with such a genotype have previously been identified, we performed extensive analysis on four members of a family by (1) the T-cell method for the identification of a homozygote, (2) the B-cell method for the identification of heterozygotes, and (3) oligonucleotide hybridization after in vitro amplification of a part of genomic APRT sequence for the identification of APRT*J and non-APRT*J alleles. We report here the first evidence that 2,8-dihydroxyadenine urolithiasis developed in a boy aged 2 years with a genotype of APRT*J/APRT*Q0.
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PMID:Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APART*Q0) leading to 2,8-dihydroxyadenine urolithiasis. 222 34

Adenine phosphoribosyltransferase (APRT) deficiency causing 2,8-dihydroxyadenine urolithiasis and renal failure is present at a high frequency among the Japanese but not other ethnic groups. A special type of mutant allele, designated APRT*J, with a nucleotide substitution at codon 136 from ATG (Met) to ACG (Thr) is carried by approximately 79% of all Japanese 2,8-dihydroxyadenine urolithiasis patients. We analyzed mutant alleles of 39 APRT deficient patients using a specific oligonucleotide hybridization method after in vitro amplification of a part of the genomic APRT sequence. We found that 24 had only APRT*J alleles. Determination of the haplotypes of 194 APRT alleles from control Japanese subjects and of the 48 different APRT*J alleles indicated that normal alleles occur in four major haplotypes, whereas all APRT*J alleles occur in only two. These results suggest that all APRT*J alleles have a single origin and that this mutant sequence has been maintained for a long period, as calculated from the frequency of the recombinant alleles.
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PMID:Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation. 222 51

We report a case of acquired idiopathic sideroblastic anemia associated with adenine phosphoribosyltransferase (APRT) deficiency. A 72-year-old male had been troubled with urolithiasis since his teens. In 1984, he was referred to us because of chronic renal failure and anemia. He was diagnosed as having sideroblastic anemia and required red cells transfusion regularly. In June 1989, he was admitted to our hospital because of cerebral infarction. Peripheral blood analysis showed pancytopenia. Bone marrow aspiration revealed hypercellularity with 36.2% erythroblasts, and 18.5% ringed sideroblasts of all nucleated cells. According to the FAB classification, a diagnosis of refractory anemia with ring sideroblasts was made. As his urinary stone consisted of 2, 8-dihydroxyadenine by analysis of infrared spectrum, genetic and enzymatic studies were performed. These studies indicated APRT deficiency. He died of pneumonia accompanied with progressive renal failure on August 9, 1989.
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PMID:[Sideroblastic anemia associated with adenine phosphoribosyltransferase deficiency]. 225 60

Twelve cases of xanthogranulomatous pyelonephritis (XGPN) complicated by urolithiasis in upper tract were presented in this study. Fifty-four cases of XGPN, including 12 cases of this study, reported in China were clinically analysed in the article. All cases were with one suffered kidney, 57.4% of the cases had both XGPN and urolithiasis, 27.8% had the history of urinary infections, 99.0% had function-impaired kidney or renal failure. XGPN was frequently mis-diagnosed as renal cancer, renal tuberculosis and renal abscess etc. The diagnosis and treatment of XGPN are discussed.
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PMID:[Xanthogranulomatous pyelonephritis complicated by urolithiasis in upper urinary tract]. 226 45

Transabdominal ultrasound is superior to excretory urography when radiographic imaging of the urinary tract is indicated in patients with prostatism. We studied 53 patients with excretory urography and ultrasonography before prostatectomy. Patients with a history of microscopic or macroscopic hematuria, urolithiasis, renal failure or upper urinary tract anomalies were excluded from our study. Ultrasonography proved to be more accurate in defining prostatic size and configuration. Bladder wall thickness also was quantified more clearly with ultrasonography. We found 17 renal masses incidentally with excretory urography, although ultrasound was essential and superior to excretory urography in defining these masses in each case. We recommend that ultrasonography be used in lieu of excretory urography when imaging of the urinary tract is indicated before prostatectomy.
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PMID:Transabdominal ultrasound versus excretory urography in preoperative evaluation of patients with prostatism. 243 31

One case of xanthogranulomatous pyelonephritis diagnosed following nephrectomy is described, considering its outstanding characteristics such as male adolescent, right kidney, involvement with normal function and without pathological history for which there is no explanation to date. This disease usually occurs in women 60 years or older, suggesting a renal tumor. In 50% of the cases, urine cultures are positive for Escherichia coli or Proteus mirabilis; in accordance with different reports renal tissue cultures are positive in more than 90%. Malnutrition, calcification, urolithiasis and renal failure with hydronephrosis are common findings. The left kidney is more frequently involved. The etiology is unclear: many hypotheses are discussed, with malnutrition and peroxidase deficit as important causes.
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PMID:[Xanthogranulomatous pyelonephritis in an adolescent]. 248 45


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