Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0016199 (flank pain)
 2,189 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Between 1972 and 1984 148 children with urolithiasis were studied and managed at the University Clinic Children's Hospital of Teheran. In 125 children the calculi were in the upper and in 23 children in the lower urinary tract. The maximum incidence was between the ages of 5-8 and 12 years. 25 children had malformations and 16 had metabolic disorders. Cystinuria was observed in 6 and xanthinuria in 3 cases. The main constituents of calculi analyses in the upper urinary tract were calcium oxalate followed by ammonium acid urate. In the lower urinary tract ammonium acid urate and oxalate were seen with equal frequency, followed by uric acid. 16 children had staghorn calculi with an age profile of 5-13 years. Predominant symptoms were flank pain and gross hematuria. In 4 cases the calculi were bilateral. The calculi were removed successfully by pyelotomy and extensive pyelolithotomy. In 2 cases with more branched-out staghorn calculi and separate fragments, a logitudinal extensive nephrotomy was performed. In the absence of recurrent stones, renal growth and function were satisfactory postoperatively. In the majority of the cases the analyses of the staghorn calculi revealed phosphate.
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PMID:Childhood urolithiasis in Iran with special reference to staghorn calculi. 233 Jun 66

While calcium oxalate and calcium phosphate make up at least 80% of all kidney stones, infection-induced and uric acid stones occur in 10% and 8%, respectively. Although any type of stone may become infected, the term "infection stones" means that stone formation exclusively depends on urease-producing bacteria. The splitting of urea leads to a rise in urinary pH which may induce crystallization of struvite (magnesium-ammonium-phosphate), the major constituent of infection stones, or carbonate apatite. Struvite stones account for the majority of staghorn calculi. They can grow quite large and may fill the entire collecting system. Patients with struvite stones may present with acute flank pain or remain completely asymptomatic. The cure of infection stones requires complete removal of the stone material. For uric acid crystallization and stone formation, low urine pH (below 5.5) is a more important risk factor than increased urinary uric acid excretion. Main causes of low urine pH are tubular disorders (including gout), chronic diarrheal states or severe dehydration. Accordingly, the treatment of uric acid stones consists not only of hydration (urine volume above 2000 ml per day), but mainly of urine alkalinization to pH values between 6.2 and 6.8. Urinary uric acid excretion can be reduced by a low-purine diet as well as--in case of recurrent uric acid stones and/or gout--by allopurinol. Cystinuria is a rare hereditary gene disorders with impaired tubular reabsorption of cystine. Stone formation occurs as a consequence of cystine's relatively low solubility at urine pH levels below 8. Only symptomatic diet and drug treatments are currently available, with urine dilution and urine alkalinization being the most efficient ones. Cystine stones respond poorly to shockwave lithotripsy, so that invasive procedures may regularly be necessary. 2,8-dihydroxy-adenine stones occur as a consequence of an enzyme deficiency that involves purine metabolism. These resulting stones are not visible by fluoroscopy and are therefore often misinterpreted as uric acid stones. Low-purine diet and allopurinol reduce the frequency of stone formation.
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PMID:[Pathophysiology, diagnosis and conservative therapy of non-calcium kidney calculi]. 1264 87

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

Cystinuria is an inherited autosomal recessive disease with a prevalence 1:7000 and typical age of onset in the second decade of life. This nephrolithiasis is not always well known and well studied and for this reason it is often underdiagnosed. Cystinuria is characterized by increased urinary excretion of cystine and dibasic amino acids (lysine, ornithine, arginine) caused by defective transport of these amino acids across the luminal membrane of proximal tubule and small intestine cells. Two mutated genes responsible of this tubular defect are SLC3A1 on chromosome 2 and SLC7A9 on chromosome 19. Clinical manifestations of cystinuria are essentially those related to stones formation and their movement across the urinary tract, like flank pain/abdomen pain and hematuria, as occurred in other nephrolithiasis types. Diagnosis is based on biochemical urine analysis, stone analysis and imaging. Genetic study of this disease may be a new and stimulating approach to better understand the defects and identify new therapeutic targets. A wider knowledge and a more detailed approach to cystinuria may help to ameliorate patients quality of life, to prevent recurrences and complications and to develop more specific and adequate treatments.
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PMID:[Cystinic nephrolythiasis: clinical experience and new diagnostic and therapeutic perspectives]. 2737 90

For the management of patients with cystinuria, forced hydration and medication have been used to prevent stone recurrence and growth, but not a few cystine stones require surgical intervention. However, the long-term follow-up data about surgical intervention for cystine stones is lacking. Here, we report a case of cystine calculi of cystinuria with many sessions of extracorporeal shock wave lithotripsy (ESWL) during the long-term follow-up period. A 13-year-old woman went to a local clinic with right flank pain in January 1993, and abdominal ultrasonography revealed right kidney stones. She was admitted to our hospital for treatment using ESWL. Analysis of the stone components revealed the stone to be composed of cystine. During the next 25 years, she received 157 sessions of ESWL and 2 sessions of transurethral ureterolithotripsy (TUL). Current examination revealed that although the lower pole of her right kidney is slightly atrophic, her renal function is stable and kidney stones remain small. Our case suggests that early intervention by ESWL could prevent stone growth and the deterioration in renal function.
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PMID:[A Case of Long-Term Treatment with Extracorporeal Shock Wave Lithotripsy and Follow-Up for Cystine Calculi by Cystinuria]. 3150 87