Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0020500 (hyperoxaluria)
 912 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In a child with renal failure and oliguria due to hyperoxaluria myelophthisis developed as a result of extensive bone-marrow replacement with calcium oxalate crystals and an accompanying fibrous proliferations. The histopathology associated with this metabolic disorder was demonstrated in posterior iliac crest bone-marrow trephine biopsies, renal biopsies, and nephrectomy specimens. Crystals were demonstrated in biopsy specimens of transplanted kidneys within six weeks following renal transplantation.
 ...
PMID:Oxalosis. An unusual cause of myelophthisis in childhood. 99 70

A case is presented in which primary hyperoxaluria and oxalosis in a 14-year-old Caucasian female were diagnosed. Generalized root resorption resulted in a remarkable mobility of her maxillary central and lateral incisors, although no bone loss was noted. The management of the patient's dental concerns in this rare heritable metabolic disorder consisted of removing the maxillary incisor teeth and placing two sequential prostheses, which the patient tolerated well. A history of trauma to the maxillary incisors was ruled out, so this case adds previously unreported information to our knowledge about the effect of oxaluria on teeth and oral tissues.
 ...
PMID:Primary hyperoxaluria in a pediatric dental patient: case report. 130 27

Hyperoxaluria type I (HPI) is a metabolic disorder secondary to liver alanine glyoxylate aminotransferase deficiency. Renal failure occurs due to the excessive production and precipitation of oxalate in the kidney. Combined liver-renal transplantation is the correct treatment for this condition when end-stage renal failure occurs as with renal transplantation alone the risk of recurrence of the same pathology in the transplanted kidney would be high. We report the case of a 4 year-old child with HPI suffering from terminal renal failure in whom a hepato-renal transplantation was performed: six months later, creatinine clearance was 62 ml/min/1.73 m2 and liver function tests were normal.
 ...
PMID:[Hepatic and renal transplantation in the treatment of type I hyperoxaluria]. 176 34

Fifty patients were followed-up for an average of 3 years after treatment for urinary bladder calculi. In 10 of these (20%) altogether 20 metabolic or endocrine diagnoses were revealed at follow-up: hypercalcaemia, 8; hyperuricosaemia, 4; high parathormone, 3; hyperuricosuria, 2; hypercalciuria, 2: hyperoxaluria, 1. About half of the patients also had other diagnoses, dominated by outflow obstruction at the prostatic level, followed by neurogenic bladder disorder. Fifteen had developed new bladder calculi. Urography revealed upper tract calculi in 12 patients, but 11 of these were free from metabolic disorder. Significant bacteriuria was common (24%). Our conclusion is that a follow-up is to be recommended after treatment of bladder calculi. It should include cystoscopy and screening for endocrine/metabolic disorders.
 ...
PMID:Follow-up of patients treated for urinary bladder calculi. 222 95

Metabolic disorders are the most frequent risk factor for the development of urolithiasis. They are manigenic substances or deficiency of inhibitors of crystalgenic substances or deficiency of inhibitors of crystallization and aggregation. The authors use for their diagnosis a modification of Pak's procedure. It involves examination of 24-hour urine with the patient on a low-calcium diet, supplemented by urine examination on fasting and after a 1000 mg calcium load. The procedure includes also examination of serum and bacteriological examination of urine. A total of 93% of patients with calcium lithiasis had a metabolic disorder, 42% suffered from idiopathic hypercalciuria, 32% from hyperuricosuria, 19% from hyperoxaluria, 15% from magnesium deficiency and 38% from hypocitraturia. On the other hand, patients with uric acid lithiasis had a detectable metabolic disorder only in 62%. Active detection of metabolic disorders is essential for the introduction of effective, specific metaphylaxis of urolithiasis.
 ...
PMID:[Detection of metabolic disorders as a cause of urolithiasis in clinical practice]. 272 Jul 28

The increasing incidence of urolithiasis makes it important to report about 34 children with urolithiasis seen between 1976 and 1986 at the Department of Pediatrics, University Medical School Vienna. At the time of the first diagnosis 59 percent of the patients were less than 7 years of age; 62 percent of our patients were males. Recurrent chronic urinary tract infection in 32 percent, metabolic disorder (secondary hyperoxaluria 5, idiopathic hypercalciuria 3, cystinuria 2, hyperuricuria 2) in 27 percent were evaluated; in 13 patients the origin of calculi was idiopathic. Most infectious stones contained magnesium ammonium phosphate, most idiopathic stones calcium oxalate. In 21 patients (62%) surgical treatment, in one patient extracorporal shock wave lithotripsie was realized. Adequate metaphylaxis (general, dietetic, medicementous) can lower the rate of occurrence of stone formation.
 ...
PMID:[Urolithiasis in pediatrics: analysis of 34 patients]. 368 52

Clinical and biochemical data were obtained from 50 patients in whom stones form and 20 controls to set up and test a screening procedure for detecting metabolic abnormalities related to the formation of urinary calculi and to provide a preliminary estimate of the frequency of these disorders in our area. A comparison between patients in whom stones form and controls in terms of the quantitative biochemical parameters evaluated (serum calcium, uric acid and inorganic phosphate, and urine calcium, uric acid, inorganic phosphate, oxalic acid, xanthine and alpha-amino-nitrogen) showed a significant difference only with respect to excretion of urinary oxalate by adults, which was higher in patients in whom stones form. Metabolic disorders were detected in 15 adult patients with stones. Of these patients 9 had isolated hyperoxaluria, 3 had incomplete renal tubular acidosis, 1 had idiopathic hypercalciuria, 1 had heterozygous cystinuria and 1 had idiopathic hypercalciuria associated with heterozygous cystinuria. These results suggest a high frequency of metabolic abnormalities in patients in whom stones form in our area, so that the wider use of the screening used here may benefit a large number of patients with preventive and therapeutic measures.
 ...
PMID:Metabolic factors in urolithiasis: a study in Brazil. 742 May 93

Type I primary hyperoxaluria is an uncommon disease related to alanine glyoxylate aminotransferase (AGT) deficiency, an exclusively hepatic enzyme. AGT deficiency leads to an overproduction of oxalate in the liver and consequent hyperoxalemia and massive hyperoxaluria with renal failure. The diagnosis is confirmed by needle biopsy of the kidney showing the exact nature of the enzyme deficiency. When terminal renal failure has developed there are two therapeutic possibilities: kidney graft or a double liver-kidney graft. Kidney graft alone is often insufficient and carries the risk of recurrent disease in the graft since the liver disorder has not been corrected. Inversely, combined liver-kidney graft can not only replace the destroyed kidneys but also correct the metabolic disorder through the effect of the AGT in the donor liver. Although this approach may be successful, it is a very aggressive procedure with high mortality.
 ...
PMID:[Mechanisms and treatment of primary type I hyperoxaluria]. 869 89

In primary hyperoxaluria type 1 (PH 1), deficiency or mistargeting of hepatic alanine glyoxylate aminotransferase (AGT) results in over-production of oxalate and hyperoxaluria, leading to nephrocalcinosis and development of end-stage renal disease (ESRD) in the majority of patients. Renal transplantation (Tx) alone carries a high risk of disease recurrence as the metabolic defect is not cured. Therefore, combined liver/kidney Tx is recommended for patients with ESRD. An alternative approach is to cure PH 1 by pre-emptive isolated liver Tx (PLTx) before ESRD has occurred, but this approach has been carried out only occasionally and there are no uniformly accepted recommendations concerning the timing of this procedure. We report follow-up 3-5.7 yr after performing successful PLTx in four children (at the age of 3-9 yrs) with PH 1 prior to the occurrence of ESRD (glomerular filtration rate [GFR] range 27-98 mL/min/1.73 m2). There was no mortality or long-term morbidity associated with the Tx procedure. Plasma and urinary oxalate levels normalized rapidly within 4 weeks, and renal function did not deteriorate under immunosuppression, even in one patient with advanced chronic renal failure (GFR 27 mL/min/1.73 m2) who showed a stable course for more than 5.7 yrs. Although treatment must be individualized in this severe metabolic disorder, and PLTx has to be regarded as an invasive procedure, we consider that PLTx should be offered and considered early in the course of PH 1. PLTx cures the metabolic defect in PH 1 and can help to prevent, or at least delay, the progression to ESRD and systemic oxalosis.
 ...
PMID:Long-term results of pre-emptive liver transplantation in primary hyperoxaluria type 1. 1093 16

An early diagnostics of metabolism disorders by using different methods is still acute. In this respect, the crytstal-optic examination of the metabolism structures of blood serum, implemented in a polarized light (microscope MIN-8) is in the focus of attention. We studied the structure of blood serum of 160 patients with various metabolic disorders. The examinations were made through drying up, under control, the blood serum drops between two isotropic plates, the mentioned preparations were subsequently kept in the open air and examined under the microscope in polarized light. Simultaneously, the below substances were identified in the blood serum: oxalic acid, creatinines, total calcium, glycine, uric acid and cholesterol. In accordance with metabolic disorders, crystals were isolated, which characterize a type of a metabolic disorder. Thus, the fan-type dendrites are indicative of hyperoxaluria, druses and dendrite-like spherulites--hypercreatinemia; oolite spherulities are indicative of hypercalcemia, fine-grained particles are typical for hyperglycinemia, feather-like rays are typical for hyperuricemia and cross-like spherulites are typical of hypercholesterolemia. The suggested method improves the control over a type of metabolic disorder, and it can be used in the express diagnostics of a pre-pathology and pathology of metabolism.
 ...
PMID:[Polarization microscopy in diagnosis of metabolic disorders]. 1271 90


1 2 Next >>