We report on a 16-day-old male with metabolic acidosis, hyperuricemia, hyperuricosuria, and nephrocalcinosis caused by Lesch-Nyhan syndrome.
[ncbi.nlm.nih.gov]
The Lesch-Nyhan syndrome is an x-linked defect of purine metabolism resulting in its classical form in major neurodevelopmental abnormality, hyperuricaemia, and hyperuricosuria
[ncbi.nlm.nih.gov]
[…] sex-linked disorder of purine metabolism that is caused by a mutation in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene which causes marked hyperuricemia and hyperuricosuria
[ncbi.nlm.nih.gov]
Test Details Use Look for hyperuricosuria in patients with renal calculus formation.
[labcorp.com]
Hyperuricemia and hyperuricosuria manifest as an orange to brown powdery substance in the urine (urate crystals).
[consultant360.com]
Measurement of uric acid and creatinine in 24-hour urine (after warming at 56°C) and blood drawn at the completion of the 24-hour collection revealed hyperuricemia and hyperuricosuria
[pediatrics.aappublications.org]
We describe an infant with transient renal insufficiency associated with hyperuricemia, hyperuricosuria and increased echogenicity of the renal medullary pyramids.
[ncbi.nlm.nih.gov]
This response occurs in patients with SCA, but during the third decade of life hyperuricosuria can be reduced, probably by damage to the renal tubules caused by infarction
[ncbi.nlm.nih.gov]
Severe hyperuricosuria and intratubular uric acid precipitation result.
[ncbi.nlm.nih.gov]
CONCLUSION: The most frequent metabolic alterations in females were hypocitraturia, urinary tract infection, low urinary volume and hyperuricosuria.
[ncbi.nlm.nih.gov]
We also found that 24.6% were obese (BMI ≥ 30 kg/m2) and showed higher rates of hypertension, DM, hyperlipidemia, hyperuricemia and hyperuricosuria compared with non-obese
[ncbi.nlm.nih.gov]
[…] stones (struvite+/-apatite and calcium oxalate) than in patients with pure infected stones (struvite+/-carbonate apatite): hypercalciuria in 40%, hyperoxaluria in 34% and hyperuricosuria
[ncbi.nlm.nih.gov]
Metabolic work-up revealed only normouricemic hyperuricosuria (HU) as the single identifiable risk factor for urolithiasis (UL) in these infants.
[ncbi.nlm.nih.gov]
Important metabolic risk factors are hypocitraturia in 63-87%, hyperoxaluria in 40-43%, hypocalciuria in 20%, hyperuricosuria in 27%, hyperammonuria in 11-51% and hypovolemia
[ncbi.nlm.nih.gov]
Generally, stones provoke considerable morbidity; hyperuricosuria is associated with an unusually severe stone disease.
[jamanetwork.com]
[…] acidic) Maintain Urine pH >5.5 (6.5 - 7.0 preferred) Potassium Citrate 10-20 mEq orally three times daily with meals Calcium Citrate 500 mg, two tablets daily with meals Hyperuricosuria
[fpnotebook.com]
Hyperuricosuria when present increases the risk of calcium oxalate stone formation in 10-20% of the patients 3.
[jpma.org.pk]
Interestingly hyperuricosuria is also associated with increased calcium containing stone formation and is thought to be related to the uric acid crystals acting as a nidus
[radiopaedia.org]
Abstract Two hundred two recurrent calcium oxalate stone-forming patients with idiopathic hypercalciuria or hyperuricosuria, or both, were treated for an average of 2.91 years
[annals.org]
Allopurinol can be helpful in patients with hyperuricosuria, and urease inhibitors can help break the cycle of infectious calculi.
[aafp.org]
Ca-nephrolithiasis with idio-pathic hypercalciuria (IHC), and allopurinol (200~300mg/D) was also added to eight of these patients for the associated hyperuricemia and/or hyperuricosuria
[webview.isho.jp]
[…] nephropathy (UAN) Synonyms Urate nephropathy, gouty nephropathy with tophi, gout nephropathy Definitions Intrarenal precipitation of uric acid associated with hyperuricemia or hyperuricosuria
[basicmedicalkey.com]
AUAN, also acute urate nephropathy ) is a rapidly worsening (decreasing) kidney function ( renal insufficiency ) that is caused by high levels of uric acid in the urine ( hyperuricosuria
[en.wikipedia.org]
Treatment of chronic urate nephropathy is that of hyperuricosuria.
[merckmanuals.com]
OBJECTIVE: To estimate dietary protein intake in children with idiopathic hypercalciuria (HC) and/or hyperuricosuria (HU).
[ncbi.nlm.nih.gov]
Abstract Two hundred two recurrent calcium oxalate stone-forming patients with idiopathic hypercalciuria or hyperuricosuria, or both, were treated for an average of 2.91 years
[annals.org]
BMD Z score averaged -0.68+/-0.99 in the 9 subjects with associated hyperuricosuria and 0.21+/-0.64 in the 17 with occasional or no hyperuricosuria ( P=0.018).
[ncbi.nlm.nih.gov]
[…] patients with MSK, we report a 5-year-old girl with MSK who had features of both dRTA (nephrocalcinosis, hypercalciuria, hypocitraturia) and proximal tubular dysfunction (hyperuricosuria
[ncbi.nlm.nih.gov]
These patients constituted 7.3% of our calcium stone-forming population Metabolic anomalies (hypercalciuria, hyperoxaluria, hypocitraturia and hyperuricosuria) were observed
[ncbi.nlm.nih.gov]
Hyperuricosuria occurred together with hypercalciuria in five patients.
[ncbi.nlm.nih.gov]
A randomized, controlled trial of allopurinol in patients with hyperuricosuria and normocalciuria was also effective in preventing recurrent stones.
[ncbi.nlm.nih.gov]
Sakhaee (9) found that 5 of 27 cystinurics had hypercalciuria, 6 had hyperuricosuria, and 12 had hypocitraturia.
[hdcn.com]
Other urolithiasis risk factors observed in patients with cystinuria include hypercalciuria, hyperuricosuria and hypocitraturia.
[academic.oup.com]
[…] uropathy Reflux nephropathy* Mesoamerican nephropathy§ –– Metabolic Chronic hypokalemia Cystinosis Fabry disease Hypercalcemia, hypercalciuria Hyperoxaluria Hyperuricemia*, hyperuricosuria
[msdmanuals.com]
Allopurinol Aristolochic acid † Captopril Cimetidine Interferon alfa Lansoprazole Mesalamine Omeprazole Ranitidine Metabolic disorders Hyperoxalaturia Ethylene glycol poisoning Hyperuricosuria
[merck.com]
[…] uropathy Reflux nephropathy * Mesoamerican nephropathy § –– Metabolic Chronic hypokalemia Cystinosis Fabry disease Hypercalcemia, hypercalciuria Hyperoxaluria Hyperuricemia*, hyperuricosuria
[merck.com]
Fanconi syndrome was suggested by multiple proximal tubular defects including renal glucosuria, hyperuricosuria, hyperphosphaturia, proximal renal tubular acidosis, and kaliuresis
[ncbi.nlm.nih.gov]
[…] hypokalemia (1.6 mmol/L) with renal K wasting, hyperchloremic metabolic acidosis with positive urine anion gap, hypophosphatemia with hyperphosphaturia, hypouricemia with hyperuricosuria
[ncbi.nlm.nih.gov]
[…] proteinuria, profound hypokalemia, hyperchloremic metabolic acidosis with a normal anion gap, positive urine anion gap, hypophosphatemia with hyperphosphaturia, hypouricemia with hyperuricosuria
[ncbi.nlm.nih.gov]
Chemotherapy Disease of the small intestine Gout (type of arthritis caused by a buildup of uric acid in the joints) Hypercalciuria (excess calcium in the urine) Hyperuricosuria
[slideshare.net]
[…] intestine Inflammatory bowel disease, Crohn’s disease or ulcerative colitis Gout Chemotherapy Excess calcium in the urine or hypercalciuria Excess uric acid in the urine or hyperuricosuria
[home-remedies-for-you.com]
In hyperuricosuria, intake of animal protein should be reduced. If the diet cannot be changed, allopurinol 300 mg each morning lowers uric acid production.
[msdmanuals.com]
Interestingly hyperuricosuria is also associated with increased calcium containing stone formation and is thought to be related to the uric acid crystals acting as a nidus
[radiopaedia.org]
Hyperuricosuria contributes to both calcium oxalate and uric acid stones.
[auanet.org]
Hyperuricosuria: Elevated level of uric acid in the urine. Hyperoxaluria: Elevated level of oxalate in the urine. Hypernatriuria: Elevated level of sodium in the urine.
[effectivehealthcare.ahrq.gov]
[…] disorder, most severe form of HPRT deficiency, associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems; Laboratory profile: Hyperuricemia, hyperuricosuria
[extern.synlab.com]
In reviewing the reported cases, it became evident that this hereditary isolated renal hypouricemia is often associated with additional phenomena, namely hyperuricosuria,
[link.springer.com]
Metabolic survey of 10 relatives revealed a rare hereditary disorder in 4 siblings: isolated renal hypouricemia and hyperuricosuria.
[ncbi.nlm.nih.gov]
The urolithiasis is probably theresult of the hyperuricosuria and of the hypercalciuriaobserved in aVected subjects.
[myslide.es]
or hyperuricosuria is severe.
[ncbi.nlm.nih.gov]
[…] with meals (preferred) OR Calcium Citrate 500 mg, two tablets daily with meals OR Sodium Bicarbonate 650 mg tablets (7.74 meq each) two tablets orally three times daily Hyperuricosuria
[fpnotebook.com]
Hyperuricosuria is a less important risk factor.
[clinicalcorrelations.org]
Abstract Two hundred two recurrent calcium oxalate stone-forming patients with idiopathic hypercalciuria or hyperuricosuria, or both, were treated for an average of 2.91 years
[annals.org]
Allopurinol can be helpful in patients with hyperuricosuria, and urease inhibitors can help break the cycle of infectious calculi.
[aafp.org]
Stapleton FB, Nash DA: A screening test for hyperuricosuria. J Pediatr 1983;102:88–90. Graystone JE: Creatinine excretion during growth; in Cheeck DB (ed): Human Growth.
[karger.com]
In hyperuricosuria, intake of animal protein should be reduced. If the diet cannot be changed, allopurinol 300 mg each morning lowers uric acid production.
[msdmanuals.com]
Allopurinol can be helpful in patients with hyperuricosuria, and urease inhibitors can help break the cycle of infectious calculi.
[aafp.org]
Uric acid stones Etiology Persistently acidic urine Gout, hyperuricemia and hyperuricosuria Specific treatment: oral chemolitholysis via urine alkalinization Specific preventive
[amboss.com]
Crohn disease) resulting in fats binding calcium hypocitraturia usually idiopathic renal tubular acidosis (type 1) chronic diarrhea hyperuricosuria idiopathic/familial gout
[radiopaedia.org]
Interestingly hyperuricosuria is also associated with increased calcium containing stone formation and is thought to be related to the uric acid crystals acting as a nidus
[radiopaedia.org]
[…] hypercalciuria (idiopathic, 50%), hypercalcemia (infants may have high Vitamin D levels, Iran J Kidney Dis 2012;6:186 ), hyperoxaluria (in vegetarians with oxalate rich diet), hyperuricosuria
[pathologyoutlines.com]
OBJECTIVE: To estimate dietary protein intake in children with idiopathic hypercalciuria (HC) and/or hyperuricosuria (HU).
[ncbi.nlm.nih.gov]
BMD Z score averaged -0.68+/-0.99 in the 9 subjects with associated hyperuricosuria and 0.21+/-0.64 in the 17 with occasional or no hyperuricosuria ( P=0.018).
[ncbi.nlm.nih.gov]
[…] with stone formation included higher uric acid excretion, probably reflecting higher food intake, and age, probably reflecting the length of exposure to hypercalciuria and hyperuricosuria
[ncbi.nlm.nih.gov]
Hyperuricosuria results from the frequent ingestion of purines or high endogenous production.
[jbn.org.br]
The genetic basis of other metabolic risk factors such as hyperuricosuria, hyperoxaluria, and hypocitraturia is beginning to be understood as molecular transporters of various
[mhmedical.com]
This may manifest in the form of glycosuria, hypokalemia, proximal renal tubular acidosis, hyperuricosuria, and generalized aminoaciduria.
[ijem.in]
Diagnostic methods In both forms, diagnosis is based on blood and urine analysis showing hyperuricemia, hyperuricosuria, and uric acid crystalluria.
[orpha.net]
[…] clear treatment Lesch-Nyhan syndrome (300322) Classic form Variant form Hypoxanthine-guanine phosphoribosyltransferase HPRT (Xq26-q27.2)* Biochemical profile: Hyperuricemia, hyperuricosuria
[merckmanuals.com]
Renal dysfunction is thought to be related to underlying hypertension and renal vascular disease, rather than to hyperuricosuria.
[musculoskeletalkey.com]
[…] investigations revealed proximal tubular dysfunction (low molecular weight proteinuria, generalized hyperaminoaciduria, hypophosphatemia with hyperphosphaturia, and hypouricemia with hyperuricosuria
[ncbi.nlm.nih.gov]
[…] patients with MSK, we report a 5-year-old girl with MSK who had features of both dRTA (nephrocalcinosis, hypercalciuria, hypocitraturia) and proximal tubular dysfunction (hyperuricosuria
[ncbi.nlm.nih.gov]
In addition, we found hyperuricosuria in 21 per cent of the patients with type I renal tubular acidosis with nephrolithiasis.
[doi.org]
Treating co-existing hypercalciuria and hyperuricosuria will also be helpful in reducing hematuria. Resources - Benign familial hematuria
[checkorphan.org]
Treating co-existing hypercalciuria and hyperuricosuria will also be helpful in reducing hematuria.
[en.wikipedia.org]
[…] neoplasm, nephrolithiasis, cystic disease (including polycystic kidney disease and medullary sponge kidney), papillary necrosis, and metabolic defects such as hypercalciuria or hyperuricosuria
[enotes.tripod.com]
The most common risk factors for recurrent calcium stones are low urinary output, hypercalciuria, hyperoxaluria, hypocitraturia, and hyperuricosuria.
[mdedge.com]
[…] hypercalciuria (idiopathic, 50%), hypercalcemia (infants may have high Vitamin D levels, Iran J Kidney Dis 2012;6:186 ), hyperoxaluria (in vegetarians with oxalate rich diet), hyperuricosuria
[pathologyoutlines.com]
The defects are X-linked or sporadic, and these patients have hyperuricosuria with hypouricemia.
[emedicine.medscape.com]
This extremely rare, X-linked, gain-of-function enzyme anomaly causes hyperuricemia and hyperuricosuria in young adult males, which may lead to uric acid lithiasis, gouty
[doctorlib.info]
[…] disorder, most severe form of HPRT deficiency, associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems; Laboratory profile: Hyperuricemia, hyperuricosuria
[extern.synlab.com]
[…] phosphate (hypophosphatemia) Increased urine phosphate (phosphaturia) Glucose in the urine (glycosuria) Excess serum protein in urine (proteinuria) Excess uric acid in the urea (hyperuricosuria
[news-medical.net]
This generally occurs in the first year of life, producing the main metabolic disturbances of hypophosphatemia, hypokalemia, metabolic acidosis, hyperuricosuria, proteinuria
[bjn.org.br]
[…] non-nephrotic proteinuria, rapid deterioration of GFR) along with features typical of a proximal tubulopathy (metabolic acidosis, glycosuria with normoglycaemia, hyperphosphaturia, hyperuricosuria
[revistanefrologia.com]
