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)

The two most common causes of hypercalcemia are malignancy and primary hyperparathyroidism (1 degree HPT). The radiographic presentations and the histological findings on bone biopsy are important for differential diagnosis of underlying diseases. We report a patient with hypercalcemia who presented unusual bone manifestations. A 43 y/o woman was admitted due to right femoral fracture. X-ray on the right tibia revealed several osteolytic cystic lesions with sclerotic rims. Blood biochemistry showed anemia, impaired renal function and hypercalcemia. Multiple osteolytic lesions on the skull and bilateral forearms were also noted. Malignancy, such as multiple myeloma or metastatic cancer was suspected. However, this was excluded because of the absence of M-component on serum protein electrophoresis and the negative finding of plasma cells or other malignant cell on bone biopsy examination. Abdominal sonography demonstrated bilateral medullary nephrocalcinosis. The final diagnosis of 1 degree HPT was made, based on the findings of classic pathological pictures (brown tumor) and the markedly elevated intact parathyroid hormone (1267.4 pg/ml) level. Sonography on the neck and 201Tl/99mTc parathyroid subtraction scan localized a left lower parathyroid tumor and fine needle aspiration confirmed the parathyroid origin. Diagnosis of 1 degree HPT could only be made from recurrent urolithiasis and X-ray picture of osteitis fibrosa cystica in the past. This patient presented the full-blown skeletal changes which are uncommonly seen nowadays. The characteristic sclerotic rims suggesting increased bone formation provides a further important clue for differential diagnosis of 1 degree HPT from other malignancies with osteolytic bone lesions.
Kaohsiung J Med Sci 1998 Sep
PMID:A patient of primary hyperparathyroidism with full-blown bone changes simulating malignancy. 979 3

We describe a Czech patient with combined adenine phosphoribosyltransferase (APRT) deficiency (2,8-dihydroxyadenine urolithiasis) and N-acetylgalactosamine-6-sulfate sulfatase (GALNS) deficiency (mucopolysaccharidosis Type IVA, Morquio disease A). Adenine and its extremely insoluble derivative, 2,8-dihydroxyadenine, were identified in the urine, and APRT deficiency was confirmed in erythrocytes. There was excessive excretion of keratan sulfate in the urine, and GALNS deficiency was confirmed in leukocytes. GALNS and APRT are both located on chromosome 16q24.3, suggesting that the patient had a deletion involving both genes. PCR amplification of genomic DNA indicated that a novel junction was created by the fusion of sequences distal to GALNS exon 2 and proximal to APRT exon 3, and that the size of the deleted region was approximately 100 kb. The deletion breakpoints were localized within GALNS intron 2 and APRT intron 2. Several other genes, including the alpha subunit of cytochrome B (CYBA), which is deleted or mutated in the autosomal form of chronic granulomatous disease, are located in the 16q24.3 region, but PCR amplification showed that this gene was present in the proband. A patient with hemizygosity for GALNS deficiency and APRT deficiency has been reported from Japan recently. These findings indicate that: (i) APRT is located telomeric to GALNS; (ii) GALNS and APRT are transcribed in the same orientation (centromeric to telomeric); and (iii) combined APRT/GALNS deficiency may be more common than hitherto realized.
Mol Genet Metab 1999 Sep
PMID:Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency. 1047 85

Urolithiasis is a common medical problem. The diagnosis of this entity in the setting of acute flank pain presents an interesting challenge to the radiologist. Unenhanced helical CT has recently entered the fray and has quickly become the imaging study of choice when evaluating patients with acute flank pain and suspected ureterolithiasis. The nature and origin of ureteral stones and the pathophysiology of ureteral obstruction provide a basis for understanding the imaging findings in these patients.
Radiol Clin North Am 1999 Sep
PMID:Helical CT of urinary tract stones. Epidemiology, origin, pathophysiology, diagnosis, and management. 1049 78

Calyceal microlithiasis (CM) is characterized by the sonographic finding of hyperechogenic spots less than 3 mm in diameter in renal calyces, and it may be the first step in calculus formation. From January 1992 to January 1998, we have observed 216 children with CM. The present report deals with 34 of them in whom renal sonography was negative at first observation and the diagnosis of CM was made only on repeated sonographic examinations. The presenting symptoms were recurrent abdominal pain, dysuria, and hematuria occurring alone or in combination. Half of the patients had hypercalciuria. A history of urolithiasis in at least one first- or second-degree relative was present in 85% of patients. Renal sonography was repeated after 6-22 months (mean 11) and showed unilateral CM in 16 subjects and bilateral in 18. The finding of CM may be preceded by a period of time when symptoms and/or signs are present while microcalculi are not yet detectable. Repeated ultrasound examinations may be needed not only in patients with hypercalciuria but also in those with recurrent abdominal pain, dysuria, and/or hematuria not associated with hypercalciuria.
Clin Pediatr (Phila) 1999 Sep
PMID:Renal calyceal microlithiasis: clinical presentation may precede sonographic evidence. 1050 Aug 84

In this study we describe 22 cases of retrograde ureteral stent placement in pregnant women with therapy-resistant flank pain due to hydronephrosis. Eleven were primiparous and one patient expected twins. Eight of 22 patients presented symptoms of pyelonephritis. In 21 cases the hydronephrosis was located on the right and in 4 cases it was bilateral. Maximal lower calix diameter was 12 mm (range 9-22 mm). With the exception of two cases, sonographically controlled stent placement was performed under local anesthesia without sedation. All patients were painfree within 6 days and were given prophylactic low doses of antibiotic until the day of delivery. Renal function remained within the normal limits. Double-J stent displacement occurred in 3 patients - of which one underwent nephrostomy. Postnatal examination demonstrated urolithiasis in 4 of 19 patients. This study provides evidence for effectiveness of retrograde ureteral Double-J stent placement as a therapeutic option in cases of severe symptomatic hydronephrosis during pregnancy with a low morbidity rate.
Urologe A 1999 Sep
PMID:[Ureteral stent placement in hydronephrosis during pregnancy]. 1050 8

Bacteria or their antigens persisting in the kidneys may induce the classical type of chronic pyelonephritis (CP), which progresses slowly, and may finally result in end-stage renal failure requiring dialysis. Pyelonephrogenic strains enter uro-epithelial and renal epithelial cells--where they accumulate--or may invade the renal interstitium. Promoting factors are obstruction, reflux, urolithiasis, nephrolithiasis, pregnancy, diabetes mellitus, humoral and cellular immunodeficiencies, immunosuppression treatment (e.g. following transplants), autoimmune phenomena (antigenic mimicry). Therapy comprises the treatment of underlying disease, antibiotics as indicated by the resistogram, acidification of urine (L-methionine), i.v. immunoglobulins (IgM, IgG) and oral vaccination with lyophilized uropathogens.
MMW Fortschr Med 1999 Sep 23
PMID:[Chronic pyelonephritis. Synopsis of laboratory values and ultrasound lead to diagnosis]. 1090 12

Apart from a minority with urolithiasis, the majority of children diagnosed with idiopathic hypercalciuria present with macro- or microhematuria, abdominal or back pain, or voiding symptoms. With dietary and pharmacological interventions, most such children become asymptomatic and are lost to follow-up, hence their long-term outcome is unclear. In the present study, we evaluated the status of 14 males and 19 females aged 8-17 years (mean 11.9 years, median 11.2 years) 4-11 years (mean 6.9 years, median 6.5 years) after the initial diagnosis of idiopathic hypercalciuria not associated with urolithiasis. A questionnaire was answered and two random urine samples provided 3-4 weeks apart were analyzed for calcium (Ca), sodium (Na), potassium (K), and creatinine (Cr). Urine Ca/Cr ratio > or =20.21 (mg/mg) was defined as hypercalciuria. At the time of the study none were under follow-up, although 7 children were still exhibiting voiding symptoms. No child developed clinical urolithiasis. Based on the first urine specimen, 16 of the 33 (48.4%) were hypercalciuric. Their 2nd urinalysis showed persistent hypercalciuria in 8 and normocalciuria in 8. Urine Na/K ratio (mEq/mEq) decreased in the latter 8 from 5.08+/-2.67 to 3.03+/-2.23 (P<0.05). Of the 17 initially normocalciuric children, 5 did not submit a 2nd specimen, 11 remained normocalciuric, and 1 became hypercalciuric with an increase in urine Na/K ratio. Twenty-three children (all 8 persistently and 9 intermittently hypercalciuric plus 6 normocalciuric) were studied by ultrasonography. Only in 1 asymptomatic persistently hypercalciuric child was a single small renal calcification noted. Introduction of a low-Na/high-K diet in 7 persistently hypercalciuric children resulted in a decrease in UNa/K ratio from 7.34+/-2.15 to 4.14+/-3.09 (P<0.01) and UCa/Cr ratio from 0.25+/-0.04 to 0.13+/-0.03 (P<0.01). We conclude that even though over time most hypercalciuric children become asymptomatic, many remain hypercalciuric. Further follow-up is required to ascertain whether these children are at risk of developing kidney stones. If they are at risk then long-term compliance with a low-Na/high-K diet might be beneficial, as it can normalize calciuria in the majority of these children.
Pediatr Nephrol 2000 Sep
PMID:Idiopathic hypercalciuria of childhood: 4- to 11-year outcome. 1097 18

3% of the population experiences a flank pain during its lifetime. A flank pain is explained by calculus disease in more than 70% of the cases. Since the introduction of spiral CT and lithotripsy the work up of urolithiasis has changed. Many tests and treatment are available: KUB, IVP, ultrasound with color Doppler, CT and MR urography for diagnosis; lithotripsy, stenting or open surgery for treatment. The emergency practitioner, the radiologist and the urologist should answer three questions that will be reviewed in this paper: Is the acute flank pain caused by urolithiasis? Will calculus be spontaneously discharged? Is lithotripsy indicated?
J Radiol 2000 Sep
PMID:[Urolithiasis, CT and lithotripsy guidelines]. 1099 90

A 21-year-old male double-yellowheaded Amazon parrot was referred because of possible urolithiasis. The bird had strained to void since it was young, and recently, signs of depression and inappetence had appeared. Radiography revealed 2 mineralized opacities in the left caudal portion of the celomic cavity. A left lateral celiotomy revealed that the left ureter was dilated and contained a calculus, which was later determined to be composed of monosodium uric acid crystals and proteinaceous material. The second mineralized mass could not be located at that time, but was detected in the caudal aspect of the celomic cavity after surgery by use of radiography. Manual attempts to maneuver the uterolith from the ureter through the cloaca were unsuccessful. Five days after the initial surgery, the uterolith was removed by cloacotomy and ventral midline laparotomy. Excretory urography performed 10 and 31 days after surgery revealed that the left ureter was homogeneously opacified and gradually decreased to 3 to 6 mm in diameter. The bird remained healthy and seemed to strain less severely during voiding. Nonspecific signs associated with ureteroliths may result in delay in diagnosis. Surgical removal of ureteroliths may be an effective treatment for this uncommon condition, but it is complicated by certain anatomic features of birds and may result in ureteral stricture.
J Am Vet Med Assoc 2000 Sep 15
PMID:Ureterotomy for removal of two ureteroliths in a parrot. 1099 58

The aim of this study was to assess, on the basing on clinical observation, the causes of erythrocyturia in children. The study include 438 children (214 girls and 224 boys) between 6 month and 17-teen years old with erythrocyturia, treated in Pediatric Nephrology Department from September 1992 till October 1999. The most common was the group of children with urolithiasis--162 (36.99%) and preurolithiasis state--126 (28.77%). In 153 cases urolithiasis was the only reason of erythrocyturia and in 9 children near urolithiasis the other reason (vesicouretheral reflux, urinary tract infection, glomerulitis, polycystic kidney) has been found. In 103 children the preulithiasis state was the only cause of erythrocyturia, in 23 children it was coexisted with others (vesicouretheral reflux, urinary tract infection, glomerulitis). As the more rare common causes were established vesicouretheral reflux, urinary tract infection, glomerulonephritis, in 36 children (8%) we did not find the reason of erythrocyturia. Variety of the reasons makes differential diagnostics of erythrocyturia complicated and needs experience and specialistic diagnostic investigation.
Pol Merkur Lekarski 2000 Sep
PMID:[Analysis of erythrocyturia causes in children]. 1108 40


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