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)

Although acute poisoning with ethylene glycol (EG) used in antifreeze mixtures is well known in man, only a few reports have described acute intoxication with diethylene glycol (DEG) and only one has mentioned oxaluria. Furthermore, there is no experimental evidence that DEG is metabolized into oxalate. The ability of ethanol infusions to prevent hepatic oxidation of DEG has not been proved. Moreover, failure of this treatment has been reported by some authors. In order to resolve such questions, Wistar male adult rats possessing a hepatic alcohol deshydrogenase were given a single oral dose of 15 ml/kg-1 DEG. Rats were either untreated or treated with hydration alone or associated with bicarbonate or ethanol. Urinary output, urinary oxalate excretion, acid-base balance in peripheral blood and renal histology were studied. Acute poisoning induced metabolic acidosis, polyuria, hyperoxaluria with renal tubular necrosis and a 66% mortality. Massive hydration improved acidosis and prognosis, but mortality and renal lesions were avoided only when bicarbonate or ethanol were added. Only ethanol significantly decreased oxaluria. In acute DEG poisoning, both the mechanism and the treatment appear to be the same as in acute EG intoxication.
 ...
PMID:[Acute human and experimental poisoning with diethylene glycol]. 630 69

This retrospective survey examines the etiology of nephrocalcinosis (NC) in 40 patients (26 boys), over an 8-year period. The median age at onset of symptoms and presentation was 36 months and 72 months, respectively. Clinical features included marked failure to thrive (82.5%), polyuria (60%) and bony deformities (52.5%). The etiology of NC included distal renal tubular acidosis (RTA) in 50% patients and idiopathic hypercalciuria and hyperoxaluria in 7.5% each. Other causes were Bartter syndrome, primary hypomagnesemia with hypercalciuria, severe hypothyroidism and vitamin D excess. No cause for NC was found in 12.5% patients. Specific therapy, where possible, ameliorated the biochemical aberrations, although the extent of NC remained unchanged. At a median (range) follow up of 35 (14-240) months, glomerular filtration rate (GFR) had declined from 82.0 (42-114) ml/min per 1.73 m2 body surface area to 70.8 (21.3-126.5) ml/min per 1.73 m2 body surface area (P = 0.001). Our findings confirm that, even with limited diagnostic facilities, protocol-based evaluation permits determination of the etiology of NC in most patients.
 ...
PMID:Etiology of nephrocalcinosis in northern Indian children. 1728 94

Nephrocalcinosis (NC) is defined as deposition of calcium crystals in the renal parenchyma and tubules. This is a retrospective review of all the data of 63 children presented to Pediatric Nephrology Clinic at King Hussein Medical Center (KHMC) over a 15-year period with bilateral NC. We determine their causes, clinical presentation and evaluate their growth and renal function during their follow-up. Thirty-five (55.5%) cases were males and 28 (44.5%) were females. The median (range) age at presentation was four (2-192) months. The most common leading cause to NC was hereditary tubulopathy in 48% followed by hyperoxaluria in 35%. The cause of NC remained unknown in 3% and Vitamin D excess accounts for 5% of the cases. The most presenting symptom was a failure to thrive (68%) and the second most common symptom was abdominal pain and recurrent urinary tract infection was found in 40%, polyuria and polydipsia were found in 32% of cases, and 16% of cases were diagnosed incidentally. At a median follow-up of 38 (14-200) months, estimated glomerular filtration rate had decreased from 84.0 (42-110) mL/min per 1.73 m2 body surface area to 68.2 (10-110) mL/min/1.73 m2 body surface (P = 0.001). This study illustrated the need for a national registry of rare renal diseases to help understand the causes of these conditions in our populations and provide support to affected patients and their families.
 ...
PMID:Nephrocalcinosis among children at king hussein medical center: Causes and outcome. 2893 64