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Query: UMLS:C0451641 (urolithiasis)
 3,973 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Urolithiasis and/or nephrocalcinosis due to hereditary diseases are a rare event which must be kept in mind of physicians who take care of children (10 to 40% of all causes of lithiases) as well as of adults (less than 15% of all causes of lithiases) since a specific management is usually required. The most frequent inborn disorders are idiopathic hypercalciuria, distal tubular acidosis, cystinuria and hyperoxaluria. Stone formation is always secondary to an increased urine concentration of promotors, i.e. calcium, oxalate, phosphate, cystine, xanthine. One of the most informative diagnosis investigation is infrared spectrophotometry which can identify stone composition. When such a technique is not available, biochemical investigations should be adapted to both personal and family history. In addition to high fluid intake (2 to 3 L/m2/24 h) sometimes associated with alcalinisation, the management of hereditary stone disease requires specific procedure. In all cases, the long-term renal prognosis is related to both primary disease and therapeutic compliance.
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PMID:[Hereditary diseases causing kidney calculi]. 936 14

In a case of typical cystinuria type I with left kidney hypoplasia and bilateral calculosis, calculi were dissolved by means of alpha-mercapto-propionyl-glycine and prophylaxis of the calculosis was performed by the same drug continuously administered in two divided doses (10-4 mg.kg-1.day-1) for 9 years, without urolithiasis. Then, the alpha-mercaptopropionyl-glycine every other day in one dose, 4 mg.kg-1.day-1, for two years was administered without calculosis. The arbitrary discontinuation of the drug by the patient was followed after 6 months from a right ureteral calculosis with transitory renal insufficiency. In our case the administration of a low dose of alpha-mercapto-propionyl-glycine every other day was useful in cystine calculosis prophylaxis.
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PMID:Prophylaxis of cystine calculi by low dose of alpha-mercapto-propionyl-glycine administered every other day. 978 25

Urolithiasis in cystinuria in a 3-year old boy with renal hypoplasia is described. We suppose that destruction of the kidney was caused by stones acting as foreign bodies and causing non-recognized pyelonephritis.
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PMID:[Cystinuria as a cause of urolithiasis in a 3-year-old boy with a small kidney]. 1022 49

The composition of urinary stones in children depends on socioeconomic conditions and hygiene, geographical area, and dietary habits. We analyzed urinary stones from 120 consecutive Tunisian children (81 males, 39 females) aged 5 months to 15 years. The stone was located in the upper urinary tract in 91 cases (76%). Stone analysis included both a morphological examination and an infrared analysis of the nucleus and the inner and peripheral layers. The main components of bladder calculi were whewellite (69%) and struvite (22%), whereas the main component of upper urinary tract calculi was whewellite (67%). The nucleus of bladder stones was composed of ammonium urate (45%), struvite (28%), cystine (10%), and carbapatite (7%). The nucleus of kidney and ureteral calculi was mainly composed of ammonium urate (38%), whewellite (24%), carbapatite (13%), or struvite (11%). Based on stone composition, urinary tract infection was involved in the nucleation or growth of a third of calculi. Endemic urolithiasis involving simultaneous nutritional, metabolic, and infectious factors, and defined by its nucleus composed of ammonium urate without struvite, represented 40% of cases. Exclusive metabolic factors - including genetic diseases such as primary hyperoxaluria, cystinuria, and hypercalciuria - were responsible for less than 25% of cases.
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PMID:Urolithiasis in Tunisian children: a study of 120 cases based on stone composition. 1060 49

Cystine urolithiasis is the only clinical expression of cystinuria, an autosomal recessive genetic defect of the transepithelial transport of cystine and other dibasic amino acids in the kidney. Stones form due to the increased excretion of cystine, which is poorly soluble at normal urine pH. Cystine stones are often resistant to extracorporeal shock wave lithotripsy, so that percutaneous surgery or ureteroscopy are the preferred techniques of stone extraction. Medical preventative treatment is based on high diuresis (>/=1.5 l/m(2) per day) well distributed throughout the day and night, and urine alkalinization up to pH 7.5 by means of sodium bicarbonate and/or potassium citrate. When these basal measures are ineffective at preventing stone recurrence or dissolving pre-existing stones, sulfhydryl agents such as D-penicillamine or tiopronin, which form highly soluble mixed disulfides with cystine moieties, are to be added to urine dilution and alkalinization, especially when cystine excretion is in excess of 750 mg/day (3 mmol/day). Frequent clinical and ultrasound follow-up is needed to encourage patient compliance and assess efficacy and tolerance of treatment.
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PMID:Treatment of cystinuria. 1104 3

Treatment of urolithiasis depends on the stone and secretion renal tubular transport disturbances. Conservative treatment of urolithiasis and prevention of stone formation in children should consist of: adequate fluid intake, low salt and animal protein diet in all stone formers; calcium-oxalate stones: diet containing a proper amount of dairy product, low oxalate diet, if indicated: thiazide diuretics, magnesium salts, citrate; uric acid stones: low purine diet, alkalization of urine up to pH 6.5-7.0, if indicated: allopurinol; infection stones: treatment of the urinary tract infection, low phosphate diet; cystinuria: low animal protein diet, alkalization of urine up to pH 7.0, if indicated: captopril, d-penicillamine.
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PMID:[Conservative treatment of urolithiasis in children]. 1089 7

Proton Nuclear Magnetic Resonance (NMR) Spectroscopy of urine (as well as of other biological fluids) is a very powerful technique enabling multi-component analysis useful in both diagnosis and follow-up of a wide range of inherited metabolic diseases. Among these pathologies, cystinuria is characterised by accumulation in urine of four dibasic amino acids, namely lysine, arginine, ornithine and cystine; the last one, being only slightly water soluble, generates urolithiasis. The mentioned aminoacids can be detected in the urine NMR spectrum of cystinuric patients, the most abundant being the lysine (5 mM and over are often detected), whose typical signals become very high; arginine and ornithine are also usually detectable, although pathologic concentrations are lower (usually below 2mM). The proposed NMR technique is also suitable in monitoring the therapy with alpha-mercaptopropionylglycine (MPG), providing quantitation of several metabolites of interest in the follow-up of the pathology, like cystine, creatinine and citrate.
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PMID:Diagnosis and follow-up of cystinuria: use of proton magnetic resonance spectroscopy. 1112 53

Cystinuria is an inherited renal and intestinal disease characterized by defective amino acid reabsorption and cystine urolithiasis. Different forms of the disease, designated type I and non-type I in cystinuric humans, can be distinguished clinically and biochemically, and have been associated with mutations in the SLC3A1 (rBAT) and SLC7A9 genes, respectively. Type I cystinuria is the most common form and is inherited as an autosomal recessive trait in humans. Cystinuria has been recognized in more than 60 breeds of dogs and a severe form, resembling type I cystinuria, has been characterized in the Newfoundland breed. Here we report the cloning and sequencing of the canine SLC3A1 cDNA and gene, and the identification of a nonsense mutation in exon 2 of the gene in cystinuric Newfoundland dogs. A mutation-specific test was developed for the diagnosis and control of cystinuria in Newfoundland dogs. In cystinuric dogs of six other breeds, either heterozygosity at the SLC3A1 locus or lack of mutations in the coding region of the SLC3A1 gene were observed, indicating that cystinuria is genetically heterogeneous in dogs, as it is in humans. The canine homologue of human type I cystinuria provides the opportunity to use a large animal model to investigate molecular approaches for the treatment of cystinuria and other renal tubular diseases.
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PMID:Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs. 1112 28

Evaluation of the risk for developing renal insufficiency is generally not considered during the clinical metabolic workup of the stone-forming patient. This review approaches the problem of the severity of nephrolithiasis by addressing the renal risk. Although renal stones are an infrequent cause of renal failure, some lithiasic forms present a greater risk, such as in hereditary stone diseases (eg, cystinuria, primary hyperoxaluria, Dent's disease), primary struvite stones, and infection-related urolithiasis associated with anatomic and functional urinary tract anomalies and spinal cord injury. Recurrent bouts of obstruction and/or crystal-specific biological effects on tubular epithelial cells and interstitial renal cells may activate the fibrogenic cascade responsible for the loss of renal parenchyma. In clinical terms, frequent stone relapses, episodes of urinary tract infection and obstruction, number of urological interventions, and size of the gravel are all significantly associated with the risk for renal failure. Percutaneous and extracorporeal urological methods for the treatment of renal stones may also lead to some chronic deterioration of renal function, particularly in recurrent stone formers treated with multiple therapeutic sessions. Although still speculative, concerns exist about the effect of extracorporeal shock wave lithotripsy on small or pathological kidneys. Without doubt, the medical prevention of stones would be more sensible.
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PMID:Risk for renal failure in nephrolithiasis. 1115 64

Five client owned dogs with cystinuria were diagnosed with carnitine and taurine deficiency while participating in a clinical trial that used dietary management of their urolithiasis. Stored 24-hour urine samples collected from the cystinuric dogs before enrollment in the clinical diet trial were quantitatively evaluated for carnitine and taurine. These results were compared to those obtained from 18 healthy Beagles. Both groups of dogs were fed the same maintenance diet for a minimum of 2 weeks before 24-hour urine collection. The protocol used for 24-hour urine collections was the same for cystinuric dogs and healthy Beagles except that cystinuric dogs were catheterized at baseline, 8 hours, 12 hours, and at the end of the collection, whereas Beagles were catheterized at baseline, 8 hours, and at the end of the collection. Three of 5 dogs with cystinuria had increased renal excretion of carnitine. None of the cystinuric dogs had increased renal excretion of taurine, but cystinuric dogs excreted significantly less (P < .05) taurine in their urine than the healthy Beagles. Carnitinuria has not been recognized previously in either humans or dogs with cystinuria, and it may be 1 risk factor for developing carnitine deficiency. Cystinuric dogs in this study were not taurinuric; however, cystine is a precursor amino acid for taurine synthesis. Therefore, cystinuria may be 1 risk factor for developing taurine deficiency in dogs. We suggest that dogs with cystinuria be monitored for carnitine and taurine deficiency or supplemented with carnitine and taurine.
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PMID:Evaluation of urinary carnitine and taurine excretion in 5 cystinuric dogs with carnitine and taurine deficiency. 1130 Jun 4


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