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Query: UMLS:C0020500 (hyperoxaluria)
 912 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A variety of dietary and metabolic factors may contribute or cause stone formation in idiopathic calcium oxalate nephrolithiasis. Dietary factors include a high intake of animal proteins, oxalate and sodium, and a low intake of fluids and potassium-containing citrus products. Some of the metabolic causes of stones are hypercalciuria, hypocitraturia, gouty diathesis, hyperoxaluria, and hyperuricosuria. Dietary modification, to be applied in all patients with stones includes a high fluid intake, restriction of oxalate and sodium, and balanced diet with animal proteins complemented by adequate intake of fruits and vegetables. When dietary modification is ineffective in controlling stone formation or in the presence of severe metabolic derangements, a pharmacologic intervention may be necessary. In a simple approach, thiazide or indapamide with potassium citrate is recommended for patients with hypercalciuria, and potassium citrate alone for the remaining normocalciuric subjects.
Nephron Clin Pract 2004
PMID:Medical management of urinary stone disease. 1549 3

The aetiology of stones in children differs from that in adults. Young children, especially boys, are prone to infective stones, although this type of calculi is decreasing in frequency over time in prosperous countries. Two monogenic causes, cystinuria and hyperoxaluria, each account for 5-15% of paediatric stones. Increased factors for stone formation in children include prematurity, neurological problems, ketogenic diet and reconstructed or augmented bladders. Hypercalciuria is commonly found in paediatric stone formers, is usually idiopathic and is only rarely associated with hypercalcaemia. All children with stones should undergo a metabolic evaluation.
Nephron Clin Pract 2004
PMID:Aetiological factors in paediatric urolithiasis. 1549 5

Microorganisms may have a role in the pathogenesis and prevention of kidney stones. The subjects of this review include nanobacteria, Oxalobacter formigenes, and lactic acid bacteria. Not reviewed here is the well-described role of infections of the urinary tract with Proteus species and other urease-producing organisms associated with struvite stone formation. Nanobacteria have been proposed to be very small (0.08-0.5 nm), ubiquitous organisms that could play a role in stone formation. The theory is that nanobacteria can nucleate carbonate apatite on their surfaces and thereby provide the nidus for stone formation. However, their existence remains uncertain and many investigators are openly skeptical. Recent investigations suggest that they are artifacts, and not actually living organisms, but their proponents continue to study them. O. formigenes is an obligate anaerobe which may be important in the prevention of stone formation. Its sole substrate for generation of ATP is oxalate. It may thereby metabolize its human host's dietary oxalate and diminish intestinal absorption and subsequent urinary excretion of oxalate. There is evidence that the organism's absence, perhaps sometimes due to courses of antibiotics, may be a cause of hyperoxaluria and stone formation. In early investigations, patients not colonized with the organism can be recolonized. Urinary oxalate can be diminished by accompanying an oxalate-containing meal with the organism. One study demonstrated that a preparation of lactic acid bacteria successfully reduced urinary oxalate excretion in 6 patients with calcium oxalate stones and hyperoxaluria. The mechanism of this effect is uncertain since these bacteria lacked the gene possessed by O. formigenes which codes for that organism's oxalate uptake mechanism. The author is currently completing a small randomized controlled clinical trial with this preparation in calcium stone-forming patients with idiopathic hyperoxaluria.
Nephron Physiol 2004
PMID:Microorganisms and calcium oxalate stone disease. 1549 15

Renal stone formation (nephrolithiasis) is a worldwide problem causing substantial morbidity and economic burden. The heritability of stone formation has long been recognized, and with the advent of the genomic era, we have the potential to define the underlying genetic defects. Renal stone formation is multifactorial, with environmental factors interacting with underlying genetic factors. Isolated genetic defects and single gene disorders which lead to stone formation have been valuable in defining renal pathophysiology, but these remain rare diseases. In this review, we examine the genetics of nephrolithiasis by considering the genetic components of defined metabolic risk factors. Hypercalciuria is the most important risk factor for calcium stone formation, although hyperoxaluria, cystinuria and other rarer defects are discussed. It is important to consider the complexity of this condition, and realize that the understanding of the genetic basis of nephrolithiasis is within our grasp.
Nephron Exp Nephrol 2008
PMID:The genetics of nephrolithiasis. 1875 88

A 6-month-old boy presented with acute renal failure, thrombocytopenia, and severe non-immune hemolytic anemia. Infection by Shiga-like toxin-producing Escherichia coli and other causes of microangiopathic hemolysis were ruled out, leading to a diagnosis of atypical hemolytic uremic syndrome (aHUS). Neither pathogenic variants in HUS-associated genes nor anti-factor H antibodies were identified. Copy number variation analysis uncovered 4 copies of complement factor H related genes, CFHR1-CFHR4, conceivably leading to higher than normal levels of the corresponding proteins. However, this abnormality was also found in the healthy relatives, neither explaining the disease nor the excessive complement deposition on endothelial cells detected by an ex-vivo test. Whole-exome sequencing revealed a pathogenic homozygous variant in GRHPR encoding the glyoxylate and hydroxypyruvate reductase. Recessive GRHPR mutations cause primary hyperoxaluria type 2 (PH2). The presence of renal calculi in the patient and elevated oxalate levels in the urine were consistent with the genetic diagnosis of PH2. We hypothesize that, in this patient, hyperoxaluria caused by the GRHPR genetic defect triggered endothelial perturbation and complement activation, which was amplified by impaired factor H regulatory activity due to the increased -CFHR1-CFHR4 copy numbers, resulting in aHUS.
Nephron 2019
PMID:Hemolytic Uremic Syndrome in an Infant with Primary Hyperoxaluria Type II: An Unreported Clinical Association. 3088 67


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