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)

We evaluated the clinical, radiological and metabolic features of 162 children with urolithiasis or microlithiasis who had been referred to our pediatric nephrology clinics between 1998 and 2008 with suspected urolithiasis. The medical histories of these children (78 girls, 84 boys), who ranged in age from 2 months to 16 years (mean age 5.59 +/- 0.35 years), were reviewed retrospectively for clinical and metabolic features of urinary tract calculi. Urinary tract infections (UTI) were present in 45.9% of the cases. The most common presenting symptoms were flank pain or restlessness (25.3%) and hematuria (21.6%), followed by UTI (16%), whereas 23.5% of the cases were detected incidentally during evaluation for other medical conditions. Other symptoms at presentation included dysuria, passing stones, penile edema, enuresis, vomiting and anorexia. Urine analysis revealed metabolic abnormalities in 87% of the cases, including hypercalciuria (33.8%), hypocitraturia (33.1%), hyperoxaluria (26.5%), hyperuricosuria (25.4%), hypocitraturia + hypercalciuria (21.1%), hyperphosphaturia (20.8%) and cystinuria (5.7%). Almost 50% of the patients had a positive family history for urolithiasis. The most frequently involved site was in the kidneys (86%). Ureters and bladder were involved in 12 and 2% of the cases, respectively. A family history of urolithiasis, presenting symptoms and underlying metabolic abnormalities were similar for microlithiasis and the patients with larger stones. However, in our study population, microlithiasis was mainly a disease of young infants, with a greater chance for remission and often not associated with structural changes. The presenting symptoms of urolithiasis show a wide spectrum, so that a high index of suspicion is important for early detection. A metabolic abnormality can be identified in 87% of cases of urolithiasis. Detection of microlithiasis may explain a number of symptoms, thus reducing invasive diagnostic procedures and allowing early recognition of metabolic abnormalities. These results draw attention to the importance of screening for UTIs in patients with urolithiasis.
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PMID:Clinical and metabolic features of urolithiasis and microlithiasis in children. 1960 96

Data on urolithiasis (UL) in infancy are limited. The objective of this study was to increase awareness of infant UL and to investigate the influence of possible risk factors in this very specific age group. Nonfasting, second-voiding urine samples were obtained to test for urinary excretions of calcium, oxalate, citrate, magnesium, uric acid, and creatinine. Blood analysis included calcium, phosphate, magnesium, uric acid, creatinine, sodium, potassium, chloride, and alkaline phosphatase. Patients received follow-up testing every 1-2 months; serial ultrasonography was used to track UL status. Fifty infants with a median age of 5 months were enrolled in the study. Hypercalciuria was detected in 9/47, hyperoxaluria in 5/39, hypocitraturia in 4/31, and cystinuria in 2/50 infants. We identified at least one metabolic abnormality in 46% of our patients; no metabolic abnormality was identified in 27 infants. Within a mean follow-up period of 14 months, 17 infants became stone free, stones increased in number in ten patients and decreased in number in 16, and recurrence was detected in seven. This study showed that UL could be detected in very early life, even in the newborn period, and could be the source of late childhood/adulthood UL. Infants with nonspecific symptoms such as restlessness may have UL and should undergo ultrasonographic examination. Metabolic evaluation of UL in this specific age group carries some diagnostic challenges, e.g. unsatisfactory data regarding normal ranges of urinary mineral excretion, and collection of 24-h urine samples.
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PMID:Urolithiasis in the first year of life. 1970 57

A five-year-old boy was referred to our pediatric clinic for evaluation of failure to thrive, headache, intermittent high fever, restlessness, polyuria, and polydipsia. His weight and height measurements were under the 3rd percentile. Clinical findings consisted of frontal bossing, carious teeth, O-bain deformity of the lower extremities, and moderate dehydration. The presence of metabolic alkalosis, hypokalemia, hypochloremia, and high renin and aldosterone levels were suggestive of Bartter syndrome and a treatment regimen for Bartter syndrome was started. At follow-up, the polyuria and hyponatremia were found to persist. A reassessment of the patient revealed findings consistent with proximal renal tubular acidosis such as metabolic acidosis with a high urinary pH, proteinuria, aminoaciduria with phosphaturia and hypercalciuria. Based on the presence of parental consanguinity as well as polyuria, proteinuria, low tubular reabsorption of phosphorus, generalized aminoaciduria, light yellow skin and hair color, the probable diagnosis of cystinosis was established and was confirmed by slit-lamp examination of the cornea showing cystine crystal deposition. Our case is a good example demonstrating that development of metabolic alkalosis does not exclude cystinosis and that all findings of the patient should be thoroughly evaluated.
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PMID:Cystinosis presenting with findings of Bartter syndrome. 2175 Jun 41