Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020438 (hypercalciuria)
 2,502 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

To investigate the long-term outcome of the frequency-dysuria syndrome (FDS) with hypercalciuria (HCU), 19 children (15 girls and 4 boys; age range 15 months to 10 years) who presented with FDS alone (N=9) or with other associated clinical features (N=10; 6 with gross hematuria, 3 with microscopic hematuria and 1 with abdominal pain) were followed-up over 720 patient-months. Calcium loading test indicated absorptive HCU in 12 patients, renal HCU in 2, and in 5 the test was inconclusive. All patients were treated with a standard protocol after diagnosis. During follow-up, FDS recurred in 4 children, gross hematuria in 3, lumbar pain in 5, and 7 children developed urolithiasis within 3 to 60 months. The latter 7 children (4 with absorptive HCU and 1 with renal HCU) tended to be older than the other 12 (7.14 vs 5.08 years; p=0.11) and required a longer time to normalize urinary calcium excretion (16 vs 7 months; p <0.01). The initial urinary calcium excretion was similar between the patients with and those without stones (5.53 vs 5.6 mg/kg/d). In all other parameters measured, there were no statistically significant differences between the patients who initially presented with FDS alone and those with FDS accompanied with other urinary symptoms. We conclude that HCU and FDS in children can vary considerably in the clinical mode of presentation as well as its sequels. Significant risk for urolithiasis burdens the children who require a longer time (>12 months) to normalize their hypercalciuria.
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PMID:Symptomatology and development of urolithiasis in children with frequency-dysuria syndrome associated with hypercalciuria. 993 1

We report our experience with the composition and management of caliceal diverticular stones for the past 13 years at our institution. Fourty patients with caliceal diverticular stones were treated percutaneously at Long Island Jewish Medical Center. The size of the diverticula ranged from 1 to 4.8 cm, with a mean size of 2.27 cm. The stone size ranged from 0.2 to 4.5 cm in diameter with an average of 1.7 cm. Twenty patients underwent a metabolic evaluation. Follow-up ranged from 8 months to 140 months with a mean of 72.5 months. We achieved a stone free rate of 95%. All 40 patients were free of pain and infection. The chemical composition of stones was identified in 38 patients. Twelve patients were found to have mainly calcium phosphate stones, 16 mainly calcium oxalate stones, 7 mainly uric acid stones and 3 were found with milk of calcium in their diverticulum. Thirty-five patients had complete resolution of their diverticula with normal urograms. The remaining 5 patients had at least 50% diminution of the diverticulum size. No one of the latter patients was found to have stone recurrence. Metabolic evaluation of the 40 patients showed in the 75% of the cases any metabolic abnormality, an absorptive hypercalciuria type II in two patients (10%), hyperuricosuric hypercalciuria in two cases (10%) and hyperoxaluria in one (5%). Percutaneous management of caliceal diverticular stones is a safe and effective modality compared to the existing alternative procedures reported in the literature.
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PMID:[Percutaneous treatment of calculosis in caliceal diverticulosis: 13-year experience]. 1095 91

Nephrolithiasis is one of the most common diseases in the Western world. The disease manifests itself with intensive pain, sporadic infections, and, sometimes, renal failure. The symptoms are due to the appearance of urinary stones (calculi) which are formed mainly by calcium salts. These calcium salts precipitate in the renal papillae and/or within the collecting ducts. Inherited forms of nephrolithiasis related to chromosome X (X-linked hypercalciuric nephrolithiasis or XLN) have been recently described. Hypercalciuria, nephrocalcinosis, and male predominance are the major characteristics of these diseases. The gene responsible for the XLN forms of kidney stones was cloned and characterized as a chloride channel called ClC-5. The ClC-5 chloride channel belongs to a superfamily of voltage-gated chloride channels, whose physiological roles are not completely understood. The objective of the present review is to identify recent advances in the molecular pathology of nephrolithiasis, with emphasis on XLN. We also try to establish a link between a chloride channel like ClC-5, hypercalciuria, failure in urine acidification and protein endocytosis, which could explain the symptoms exhibited by XLN patients.
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PMID:ClC-5 chloride channel and kidney stones: what is the link? 1126 81

We report on a 29-year-old patient who received high doses of prednisone and cyclosporine for the treatment of Still disease. She consulted about dorsolumbar pain leading to physical disability. She presented multiple vertebral fractures, decreased lumbar bone mineral density in the rank of osteoporosis, high bone turnover, and associated hypercalciuria. Cyclosporine and corticoids induced severe changes in bone and mineral metabolism. All patients in treatment with these drugs should undergo radiology, bone densitometry and biochemical determinations of mineral metabolism at the beginning of therapy. Treatment with high doses of intravenous pamidronate (225 mg in 3 months), calcitonin (200/400 IU daily), tiazide (25 mg/daily), and kinesiotherapy mitigated the pain quickly and she recovered motility. We discuss this approach of treating osteoporosis with corticoids and immunosuppressors according to the present knowledge of bone biology.
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PMID:[Vertebral osteoporosis induced by corticoids and cyclosporine ina a patient with Still disease]. 1147 83

Annual incidences of kidney stones are about 0.1-0.4% of the population, and lifetime prevalences in the USA and Europe range between 8 and 15%. Kidney stones occur more frequently with increasing age and among men. Within ten years, the disease usually recurs in more than 50% of patients. Nowadays, about 85% of all kidney stones contain calcium salts (calcium oxalate and/or calcium phosphate) as their main crystalline components. Because human urine is commonly supersaturated with respect to calcium salts as well as to uric acid, crystalluria is very common, i.e. healthy people excrete up to ten millions of microcrystals every day. Recurrent stone formers appear to excrete lower amounts or structurally defective forms of crystallization inhibitors which allows for the formation of large crystal aggregates as precursors of stones. Alternatively, crystal adhesion to urothelial surfaces may be enhanced in stone formers. Medical treatment of renal colic is based on nonsteroidal antiinflammatory drugs, because prostaglandins appear to play a crucial role in the pathophysiology of pain during ureteral obstruction. In addition, centrally acting analgesics such as pethidine-HCl may be required in many cases. The administration of high amounts (3-4 liters/day) of intravenous fluids should be abandoned, since it may raise intraureteral pressure whereby pain increases and kidney pelvis or fornices may rupture. All first-stone formers should undergo a simple basic evaluation, including stone analysis (x-ray diffraction or infrared spectrometry), serum values of ionized calcium (alternatively: total calcium and albumin) and creatinine, urinalysis and repeated measurements of fasting urine pH in order to detect urinary acidification disorders or low urine pH. In high-risk patients with as first stone episode (i.e. strongly positive family history, inflammatory bowel disease, short-bowel syndrome, nephrocalcinosis, bilateral stones, hypercalcemia, renal tubular acidosis, airline pilots) as well as in all recurrent stone formers, an extended metabolic evaluation should be performed. Two 24-hurines should be collected on free-choice diet not prior to three months after stone passage or urological intervention. Analysis includes measurements of volume, creatinine, calcium, oxalate, uric acid and citrate; sodium and urea as markers of salt and protein consumption are optional but clinically very helpful. Since hypercalciuria is of much less importance than increases in urinary oxalate, therapeutic efforts should primarily focus on lowering urinary oxalate excretion. Sufficient calcium intake, i.e. 1200 mg per day, is crucial, because it allows for binding of oxalate at the intestinal level whereby increases of urinary oxalate (reciprocal hyperoxaluria) can be avoided. Excess intake of flesh protein (meat, fish, poultry) is lithogenic since it increases urinary calcium, oxalate and uric acid, and lower citrate. On the other hand, a diet rich in alkali (vegetables, fruit) is associated with a lower risk of stone formation. A "common sense diet" containing sufficient amounts of fluids, 1200 mg of calcium per day and reduced amounts of flesh protein as well as salt is able to reduce the 5-year stone recurrence rate in calcium stone formers by 50%. The scientific evidence for drug treatment (thiazides, alkali citrate) is rather poor: the most widely quoted randomized thiazide trial included only 42 patients of whom 36% left the protocol prematurely, whereas 36-48% of patients included in three randomized studies with alkali citrate suffered from undesirable side-effects; nevertheless, citrate therapy reduced the stone recurrence rate by 38%, compared with 22% in patients on placebo treatment (p < 0.0005).
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PMID:[Pathophysiology, diagnosis and conservative therapy in calcium kidney calculi]. 1264 86

OBJECTIVE: To analyze the clinical history and evolution of children and adolescents with IH, emphasizing some of their peculiar features. METHODS: We followed 471 patients with IH at an outpatient clinic. Patients were submitted to the following protocol: abdominal X-ray, kidney and urinary tract ultrasonography; urinary ionogram, blood gas and biochemical analyses; 24-hour urine for measurement of calcium and other electrolytes and creatinine; urinalysis, urine culture and phase-contrast microscopy; second morning urine collected after fasting for measurement of calcium and creatinine. RESULTS: At the time of diagnosis, 6% of the patients were infants, 15% pre-school children, 55% school children, and 24% adolescents; 56% of them were boys. Clinical and laboratory findings were: 47% had hematuria and abdominal pain, 31% had isolated hematuria, 14% isolated abdominal pain, and 8% had urinary tract infection, nocturnal enuresis, suprapubic pain or urethralgia, or the frequency/urgency syndrome with urinary incontinence. Hypercalciuria was associated with urolithiasis in 56% of patients. There was association with hyperuricosuria in 18.5% of the cases, and hypocitraturia in 8.5% of the cases. Evolution was poor for 33% of the patients, with recurrence of nephrolithiasis, persistence of hematuria, and abdominal pain. CONCLUSIONS: IH must be diagnosed and treated with criteria in order to reduce consequences such as hematuria, abdominal pain, urinary stone formation and possible bone involvement. Signs and symptoms such as urgency and urinary incontinence, suprapubic pain and nocturnal enuresis may result from renal hyperexcretion of calcium.
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PMID:[Idiopathic hypercalciuria: presentation of 471 cases] 1464 99

Ca2+ ions play a fundamental role in many cellular processes, and the extracellular concentration of Ca2+ is kept under strict control to allow the proper physiological functions to take place. The kidney, small intestine, and bone determine the Ca2+ flux to the extracellular Ca2+ pool in a concerted fashion. Transient receptor potential (TRP) cation channel subfamily V, members 5 and 6 (TRPV5 and TRPV6) have recently been postulated to be the molecular gatekeepers facilitating Ca2+ influx in these tissues and are members of the TRP family, which mediates diverse biological effects ranging from pain perception to male aggression. Genetic ablation of TRPV5 in the mouse allowed us to investigate the function of this novel Ca2+ channel in maintaining the Ca2+ balance. Here, we demonstrate that mice lacking TRPV5 display diminished active Ca2+ reabsorption despite enhanced vitamin D levels, causing severe hypercalciuria. In vivo micropuncture experiments demonstrated that Ca2+ reabsorption was malfunctioning within the early part of the distal convolution, exactly where TRPV5 is localized. In addition, compensatory hyperabsorption of dietary Ca2+ was measured in TRPV5 knockout mice. Furthermore, the knockout mice exhibited significant disturbances in bone structure, including reduced trabecular and cortical bone thickness. These data demonstrate the key function of TRPV5 in active Ca2+ reabsorption and its essential role in the Ca2+ homeostasis.
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PMID:Renal Ca2+ wasting, hyperabsorption, and reduced bone thickness in mice lacking TRPV5. 1467 86

Phyllanthus niruri is a plant used for years in Brazil to treat urinary calculi. We prospectively evaluated the effect of P. niruri intake on 24 h urinary biochemical parameters in an attempt to assess its in vivo effect in calcium stone forming (CSF) patients. A total of 69 CSF patients (39 males and 30 females, 38+/-8 years old) were randomized to take either P. niruri ( n=33) (450 mg capsules, td) or placebo ( n=36) for 3 months. Blood calcium, uric acid, citrate, magnesium, oxalate, sodium and potassium were determined at baseline and at the end of the study. A subset analysis was made in patients classified according to the presence of metabolic abnormalities (hypercalciuria, hyperuricosuria, hyperoxaluria, hypocitraturia and hypomagnesiuria). Overall, there were no significant differences in the mean values of urinary parameters between the urine samples before and after P. niruri intake, except for a slight reduction in mean urinary magnesium after P. niruri, which was within the normal range. However, in the subset analysis, we observed that P. niruri induced a significant reduction in the mean urinary calcium in hypercalciuric patients (4.8+/-1.0 vs 3.4+/-1.1 mg/kg/24 h, P<0.05). In this short-term follow-up, no significant differences in calculi voiding and/or pain relief between the groups taking P. niruri or the placebo were detected. Our data suggest that P. niruri intake reduces urinary calcium based on the analysis of a subset of patients presenting with hypercalciuria. Larger trials including primary hypercalciuric stone formers should be performed in order to confirm these findings and to determine the possible clinical consequences of urinary calcium reduction during P. niruri administration.
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PMID:Phyllanthus niruri normalizes elevated urinary calcium levels in calcium stone forming (CSF) patients. 1522 Dec 44

A female presented with pain in left flank, detected to have bilateral renal calculi with deranged liver functions. On investigation found her to have Wilson's disease with hypercalciuria and incomplete distal renal tubular acidosis. Patient was started on penicillamine following which her hepatitis improved but hypercalciuria persisted after 10 weeks of follow up. The rarity of such presentation and literature review for the same is discussed.
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PMID:Rare presentation of Wilson's disease: a case report. 1536 14

Our aim was to investigate the role of renal colic, a clinical condition characterized by excruciating pain, in the etiopathogenesis of irritable bowel syndrome (IBS). Two groups of patients were enrolled in the study. Group I consisted of 59 patients (33 male and 26 female) with a median age of 41.9 (18 to 58) years. The patients in group I were admitted to our clinic with urinary stone disease and with a medical history of acute renal colic. Group II consisted of 55 patients (25 male and 30 female) with a median age of 40.1 (18 to 56) years, complaining of urologic abnormalities other than stone disease. IBS was diagnosed using Rome criteria. Metabolic analysis for stone disease was performed on patients in group I. The incidence of five metabolic abnormalities--low urine volume, hypercalciuria, hyperoxaluria, hyperuricosuria and hypocitraturia--in patients with and without irritable bowel disease was investigated. IBS was found in 16 of the 59 patients (27.1%) in group I and in 6 of the 55 patients (10.9%) in group II. The difference was statistically significant (P < 0.05). Relative risk of developing IBS was 2.48 times higher in patients with urinary stone disease than in those without stone disease. There was no statistically significant difference in the metabolic analysis of patients with and without IBS in group I. IBS causes great suffering. Urinary stone disease should be considered as an etiological factor during management of IBS patients. In the presence of gastrointestinal symptoms, a patient with a medical history of acute renal colic might be referred to a gastroenterologist.
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PMID:Is there a relation between irritable Bowel syndrome and urinary stone disease? 1581 Jun 50


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