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

PH1 is a metabolic disorder characterized by urolithiasis and the accumulation of oxalate crystals in the kidneys and other organs. Although patients often first present with renal failure, PH1 results from a deficiency of the hepatic peroxisomal enzyme AGT. Ultimately only liver transplantation will cure the underlying metabolic defect. Herein, we report the case of a three-month-old male infant diagnosed with PH and treated using a combined liver and en bloc-kidney transplant from a single donor. At the time of transplant, the patient was 11 months old and weighed 7.9 kg. He received a full size liver graft and en bloc kidneys from a two-yr-old donor. At 36 months post-transplant, the patient is steadily growing with normal renal and hepatic function. This is one of the first reports of successful liver and en bloc-kidney transplantation with abdominal compartment expansion by PTFE for the infantile form of PH1 in a high risk child before one yr of age. Prompt diagnosis and early referral to a specialized center for liver and kidney replacement offer the best chance for survival for infants with this otherwise fatal disease.
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PMID:Successful outcome after early combined liver and en bloc-kidney transplant in an infant with primary hyperoxaluria type 1: a case report. 1968 42

We sought to ascertain the long-term outcome and genotype-phenotype correlations available for primary hyperoxaluria type 1 in a large retrospective cohort study. We examined the clinical history of 155 patients (129 families primarily from Western Europe, North Africa, or the Middle East) as well as the enzymatic or genetic diagnosis. The median age at first symptom was 4 years, and at diagnosis 7.7 years, at which time 43% had reached end-stage renal disease. Presentations included: (1) early nephrocalcinosis and infantile renal failure, (2) recurrent urolithiasis and progressive renal failure diagnosed during childhood, (3) late onset with occasional stone passage diagnosed in adulthood, (4) diagnosis occurring on post-transplantation recurrence, and (5) family screening. The cumulative patient survival was 95, 86, and 74% at ages 10, 30, and 50 years, respectively, with the cumulative renal survival of 81, 59, 41, and 10% at ages 10, 20, 30, and 50 years, respectively; 72 patients had undergone a total of 97 transplantations. Among the 136 patients with DNA analysis, the most common mutation was p.Gly170Arg (allelic frequency 21.5%), with a median age at end-stage renal disease of 47 years for homozygotes, 35 years for heterozygotes, and 21 years for other mutations. Our results underscore the severe prognosis of primary hyperoxaluria type 1 and the necessity for early diagnosis and treatment, as well as confirm a better prognosis of the p.Gly170Arg mutation.
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PMID:Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome. 2015 Sep 37

We report on 2 infants with acute renal failure caused by bilateral obstructive ureteral stones associated with rotavirus gastroenteritis. A 28-month boy and a 13-month boy with several days history of watery diarrhea and vomiting were referred to our hospital because of anuria. They were diagnosed acute post-renal failure due to obstructive bilateral ureteral stones based on the findings of ultrasound scan and computed tomography. Immediately, percutaneous nephrostomy tubes were inserted for urinary drainage, serum levels of creatinine and uric acid returned to normal within several days. Sandy stones were excreted through the nephrostomy tubes with urine after urinary alkalization, which were proved to be mainly ammonium acid urate. Ammonium acid urate is rare in developed countries, but some cases of bilateral urolithiasis causing acute renal failure in infants with rotavirus gastroenteritis were reported in recent years. It has been known that the cause of acute renal failure is renal azotemia resulting from sustained hypovolemia, but post-renal causes due to ammonium acid urate stones should be taken into consideration.
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PMID:[Two cases of infants with acute renal failure due to bilateral obstructive ureteral stones associated with rotavirus gastroenteritis]. 2015 76

Hereditary xanthinuria type I, a defect of purine metabolism, results from a genetic deficiency of xanthine oxidase. It is an uncommon cause of stone formation in children. We report here two children with xanthine urolithiasis. The first patient was an 8-year-old boy who presented with repeated episodes of hematuria evaluated with excretory urography, which demonstrated radio-lucent pelvic stone in the right kidney, causing hydronephrosis. He had pyelolithotomy, and the extracted stone consisted of pure xanthine. Family study revealed an asymptomatic xanthinuria in younger brother. The second patient was a 5-year-old boy who had a 2-week history of abdominal pain and gross hematuria. Conventional excretory intravenous urography showed a non-functioning right kidney. Nephrectomy was performed, and histology revealed end-stage pyelonephritis. The calculi consisted of pure xanthine. In both patients, plasma and urinary concentrations of uric acid were low but xanthine and hypoxanthine concentrations were markedly elevated. Xanthine urolithiasis is usually a benign condition, easy to prevent or cure by appropriate alkalinization, forced hydration and restriction of dietary purines. However asymptomatic, and therefore undiagnosed, stones may invade the kidney and urinary tract, resulting in destruction of parenchyma, nephrectomy and renal failure.
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PMID:Xanthine urolithiasis. 2022 23

Urologic complications are an important cause of morbidity and even mortality in patients with spinal cord injury (SCI). It has been estimated that within eight years after injury, approximately 7% of SCI patients would develop kidney stones, whereas 36% would have bladder stones. Risk factors for urolithiasis among patients with SCI include complete spinal cord injury, lesions at or above the 4th thoracic spinal cord segment, upper motor neurone type of bladder, urinary tract infection with urease producing bacteria, recurrent urinary tract infection, indwelling catheters, presence of residual urine and immobilization. Detection and removal of bladder stones are important to prevent possible complications such as recurrent urinary tract infection, urosepsis and renal failure. The authors describe a clinical case of a patient with acute SCI that developed bladder stones and discuss its possible causes.
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PMID:[Bladder stones in acute spinal cord injury]. 2035 15

Urolithiasis (UL) can present with its classic signs and symptoms, such as flank or abdominal pain and gross hematuria. However, atypical complaints can be more common in younger children. We report here a case of bilateral ureteropelvic junction (UPJ) stones in a 10-month-old boy who only showed nonspecific symptoms at the time of presentation. The initial blood test revealed renal failure (serum creatinine 3.4 mg/dl), hyperkalemia (6.4 mEq/l), hyperphosphoremia (9.4 mEq/l) and mild metabolic acidosis. Medical treatment for electrolyte disorders was started. The ultrasonography revealed impacted stones in both ureteropelvic junctions. A pigtail catheter was placed in each ureter. High urine flow was promptly achieved after the pigtail procedure, and the serum creatinine level dropped quickly from 4.5 to 0.32 mg/dl. Quantitative determination of urinary amino acids by ion exchange chromatography showed high cystine levels of 8.43 mmol/g creatinine. Outpatient follow-up was scheduled every 3 months to monitor patient compliance with potassium citrate. In the first 6 months, the patient underwent three febrile urinary tract infections (UTIs). Since both pigtail catheters were removed, he has been free of UTIs and stones. Our case emphasizes the need for considering UL in infants who complain with unclear signs, because UL can only show nonspecific symptoms in children younger than 1 year old. Since cystinuria can cause loss of renal function due to urinary system obstruction and UTI, an early diagnosis and a close follow-up are the key to achieving the best long-term outcome.
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PMID:Acute renal failure due to bilateral pieloureteral stone impaction in a 10-month-old boy. 2067 19

Melamine has been the main factor leading to infant urinary calculi occurring on a rather wide scale in China in 2008, which were the results of a rapid aggradation of metabolites such as cyanuric acid diamide, cyanuric acid, etc., causing uric acid stone to accumulate. Here, we present a report on 24 infants who were admitted to our department, their ages ranging from 3 to 10 months. All of these infants had a confirmed history of having been fed with the "Sanlu" brand milk powder, which contained excessive levels of melamine, with the highest being 2,563 mg/kg. The diagnosis, medical treatment and follow-up by ultrasonography at 1, 3, 6, 12 months were reported. 22 cases of these infants were rehabilitated after medical treatment and 1 infant underwent pyelolithotomy for relieving an obvious ureter obstruction. No recurrence was found in these babies thereafter. Another infant died from rapidly worsening renal failure. Therefore, this series of cases have demonstrated that melamine contained in the "Sanlu" milk powder was the main cause of these urinary stones. Urine alkalinization and stone liberalization were the most effective treatments. Fast diagnosis and treatment of acute obstructive urolithiasis may prevent the development of acute renal failure, which is associated with high morbidity and mortality rates.
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PMID:Melamine-induced infant urinary calculi: a report on 24 cases and a 1-year follow-up. 2051 3

Pediatric urolithiasis is an endemic disease in Turkey. We evaluated the clinical, radiological and metabolic features of children with urolithiasis in Western Turkey. We retrospectively reviewed the records of 85 children with urolithiasis who were followed-up between 2004 and 2010 in Pediatric Nephrology Department of Celal Bayar University, Manisa. The male/female ratio was 1.23/1. The mean age at diagnosis was 66.1 months (range 3-210 months). Family history of urolithiasis was found in 58 (68.2%) patients. 23 (27%) patients were born from consanguineous marriages. Stones were located in the upper urinary tract in 79 (92.9%) patients. In 66 (77.6%) patients, stones were single-sided and 41 (48.2%) patients had multiple stones. Calcium oxalate stones were the most common one among patients in whom stone analysis was performed (78.5%). Hypocitraturia was the most commonly detected urinary metabolic risk factor. In patients who were under 12 months of age at diagnosis, hypercalciuria was the most commonly seen urinary metabolic risk factor. At the end of follow-up period, 24 patients became free of stone disease and 4 patients had recurrence. In conclusion, metabolic abnormalities are common in pediatric stone patients and are strongly associated with recurrence. Considering that urolithiasis in children is an important risk factor for renal failure, early diagnosis, detailed metabolic evaluation and implementing appropriate treatment and follow-up protocols may prevent recurrence and renal damage.
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PMID:Metabolic and demographic characteristics of children with urolithiasis in Western Turkey. 2065 90

We made a retrospective (290) and a prospective (131) analysis of the evidence obtained on 421 patients with nephrostomic drainage (251) and an ureteral stent (170) treated for urolithiasis in the urological department of the Moscow Regional Research Clinical Institute from 1995 to 2008. Assessment of clinical and laboratory characteristics of the patients with nephrostomic drainage and an ureteral stent allowed the following conclusions: puncture nephrostomy (p < 0.05) for upper urinary tract drainage is preferable in a solitary functioning kidney, acute obstructive pyelonephritis, anuria, hyperthermia 380 and higher, marked supravesical urodynamic disorder, renal failure, plasmic creatinine level over 200 mcmol/l, azotemia over 10 mmol/l, blood potassium over 5.0 mmol/l, uric acid over 380 mcmol/l and leukocytosis over 8.0 x 10(9)/l. In the other cases a drainage method can be chosen by a physician. Cephalosporines, aminoglycosides, fluoroquinolones and carbapenems in standard doses are recommended in active inflammation when antibioticograms are not obtained yet. Significant differences are seen in drainage with nephrostoma and ureteral stent. Recommendations on nephrostomic drain and ureteral stent installation depending on clinical and laboratory findings are presented.
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PMID:[Choice of an upper urinary tract drainage method in urolithiasis]. 2073 13

Primary hyperoxaluria type I (PH1) is an inborn error of metabolism caused by deficiency of the hepatic enzyme alanine-glyoxylate aminotransferase (AGXT or AGT) which leads to overproduction of oxalate by the liver and subsequent urolithiasis and renal failure. The current therapy largely depends on liver transplantation, which is associated with significant morbidity and mortality. To explore an alternative treatment, we used somatic gene transfer in a mouse genetic model for PH1 (Agxt1KO). Recombinant adeno-associated virus (AAV) vectors containing the human AGXT complementary DNA (cDNA) were pseudotyped with capsids from either serotype 8 or 5, and delivered to the livers of Agxt1KO mice via the tail vein. Both AAV8-AGXT and AAV5-AGXT vectors were able to reduce oxaluria to normal levels. In addition, treated mice showed blunted increase of oxaluria after challenge with ethylene glycol (EG), a glyoxylate precursor. In mice, AGT enzyme activity in whole liver extracts were restored to normal without hepatic toxicity nor immunogenicity for the 50 day follow-up. In summary, this study demonstrates the correction of primary hyperoxaluria in mice treated with either AAV5 or AAV8 vectors.
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PMID:Phenotypic correction of a mouse model for primary hyperoxaluria with adeno-associated virus gene transfer. 2111 25


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