Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0451641 (urolithiasis)
 3,973 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ureteral calculi were found in 5 children who were receiving or had recently completed remission induction therapy for acute leukemia or lymphoma. All 5 patients had abdominal or back pain and 3 had gross hematuria. The diagnosis of urolithiasis was suggested by excretory urograms that showed obstructive uropathy (4 patients) and by computerized tomography scans that demonstrated ureterovesical obstruction (1 patient with acute renal failure and anuria). With a single exception the calculi were not associated with urinary tract infections. Chemical analyses in the 2 patients tested indicated that the stones were composed of calcium, in contrast to the uric acid and xanthine compositions of stones in earlier studies of patients with leukemia or lymphoma. Factors that might have predisposed our patients to calculi formation include corticosteroid therapy, immobilization owing to bed rest and urinary alkalization. Other possible contributing factors were urinary stasis (2 patients) and a familial tendency for renal calculi to develop. There was no evidence of idiopathic hypercalciuria in either patient tested. Prompt detection of urolithiasis in children undergoing induction chemotherapy for a malignant disease may avoid potentially serious consequences from urinary tract obstruction.
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PMID:Urolithiasis in childhood acute leukemia and nonHodgkin's lymphoma. 346 63

Apart from a minority with urolithiasis, the majority of children diagnosed with idiopathic hypercalciuria present with macro- or microhematuria, abdominal or back pain, or voiding symptoms. With dietary and pharmacological interventions, most such children become asymptomatic and are lost to follow-up, hence their long-term outcome is unclear. In the present study, we evaluated the status of 14 males and 19 females aged 8-17 years (mean 11.9 years, median 11.2 years) 4-11 years (mean 6.9 years, median 6.5 years) after the initial diagnosis of idiopathic hypercalciuria not associated with urolithiasis. A questionnaire was answered and two random urine samples provided 3-4 weeks apart were analyzed for calcium (Ca), sodium (Na), potassium (K), and creatinine (Cr). Urine Ca/Cr ratio > or =20.21 (mg/mg) was defined as hypercalciuria. At the time of the study none were under follow-up, although 7 children were still exhibiting voiding symptoms. No child developed clinical urolithiasis. Based on the first urine specimen, 16 of the 33 (48.4%) were hypercalciuric. Their 2nd urinalysis showed persistent hypercalciuria in 8 and normocalciuria in 8. Urine Na/K ratio (mEq/mEq) decreased in the latter 8 from 5.08+/-2.67 to 3.03+/-2.23 (P<0.05). Of the 17 initially normocalciuric children, 5 did not submit a 2nd specimen, 11 remained normocalciuric, and 1 became hypercalciuric with an increase in urine Na/K ratio. Twenty-three children (all 8 persistently and 9 intermittently hypercalciuric plus 6 normocalciuric) were studied by ultrasonography. Only in 1 asymptomatic persistently hypercalciuric child was a single small renal calcification noted. Introduction of a low-Na/high-K diet in 7 persistently hypercalciuric children resulted in a decrease in UNa/K ratio from 7.34+/-2.15 to 4.14+/-3.09 (P<0.01) and UCa/Cr ratio from 0.25+/-0.04 to 0.13+/-0.03 (P<0.01). We conclude that even though over time most hypercalciuric children become asymptomatic, many remain hypercalciuric. Further follow-up is required to ascertain whether these children are at risk of developing kidney stones. If they are at risk then long-term compliance with a low-Na/high-K diet might be beneficial, as it can normalize calciuria in the majority of these children.
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PMID:Idiopathic hypercalciuria of childhood: 4- to 11-year outcome. 1097 18

Familial renal hypouricemia with exercise-induced acute renal failure (ARF) is rare. A 45-year-old man presented with abdominal pain, vomiting, and oliguria after severe exercise. The diagnosis was ARF based on high serum creatinine (SCr) level (5.1 mg/dL [451 micromol/L]). Renal function recovered completely within 2 weeks of conservative treatment (creatinine clearance [Ccr], 100.4 mL/min [1.67 mL/s]). After remission, laboratory results showed serum urate (SUA) of 0.8 mg/dL (48 micromol/L), and fractional excretion of uric acid (FE(UA)) of 46%. The final diagnosis was ARF associated with idiopathic renal hypouricemia. Other diseases that could increase the excretion of urate were excluded. Because only mild responses were observed both in pyradinamide and benzbromarone loading tests, he was considered to be a presecretory reabsorption disorder type. The younger brother (42 years old) also had episodes of low and middle back pain after severe exercise and experienced similar attacks at least 5 times since the age of 29. SCr level was elevated in every attack. Hypouricemia (SUA, 1.0 mg/dL [59 micromol/L]) and high urinary urate excretion (FE(UA), 65.7%) also were detected. Renal function recovered almost completely without any specific treatment. Radiologic examination of the 2 cases showed bilateral urolithiasis probably caused by the high urinary urate excretion. Sequence analysis of a urate anion exchanger known to regulate blood urate level (URAT1 gene) in both brothers showed homozygous mutation in exon 4 (W258Stop), resulting in a premature truncated URAT1 protein. Both their parents and their children showed heterozygous mutation of the URAT1 gene. This is the first report of the 2 male siblings of familial renal hypouricemia complicated with exercise-induced ARF, with definite demonstration of genetic abnormality in the responsible gene (URAT1).
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PMID:Two male siblings with hereditary renal hypouricemia and exercise-induced ARF. 1465 3

The science of genetics is able to provide clinicians with early information on the inheritance of autosomal dominant polycystic kidney disease (ADPKD). It is also possible that nephrology clinicians will be able to promote early patient education and provide interventions to improve patient care. Mutations in PKD1 and PKD2 genes account for the majority of ADPKD. ADPKD is one of the most common genetic diseases in humans, crossing all ethnic populations worldwide with an occurrence of one in 500 to one in 1,000 (Igarashi and Somlo, 2002). Individuals with ADPKD, generally in their third and fourth decade, will clinically manifest the initial stages of renal insufficiency such as back pain, urinary tract infections, systemic hypertension and urolithiasis. Although the mechanisms of inheritance are well-described in many medical journals, disease onset, expression and severity are variable. The variable nature of ADPKD suggests that education is vital in helping ADPKD patients make informed decisions on their health and future.
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PMID:The genetic role in autosomal dominant polycystic kidney disease and nephrology clinical practice. 1567 53

Case 1: A 31-year-old woman with the chief complaint of right back pain was referred to our hospital. She was diagnosed with a right ureteral stone and it was delivered spontaneously after conservative medical therapy. The stone was found to consist of silicate by infrared spectrometry. Case 2: A 71-year-old man with the chief complaint of asymptomatic macrohematuria was referred to our hospital. No tumor was observed by cystourethroscopy, but a right ureteral stone was found by computerized tomography. Subsequently, it was delivered immediately and infrared spectrometry of the stone demonstrated silicate containing a small amount of calcium oxalate monohydrate. We analyzed and discussed 44 cases of silicate urolithiasis reported in Japan.
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PMID:[Two cases of silicate urolithiasis]. 1647 91

An 11-year-old acute lymphoblastic leukemia patient suddenly developed severe abdominal flank pain and hematuria caused by renal stone during induction chemotherapy. The patient was treated with forced hydration, and the pain was relieved after the renal stone passed through. The renal stone was composed of calcium phosphate. The patient is currently in continuous complete remission, has had no recurrence of the urolithiasis, and is on consolidation chemotherapy. Although urolithiasis is extremely rare in childhood acute lymphoblastic leukemia, it should be considered in patients who complain of abdominal flank pain or back pain during chemotherapy.
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PMID:Urolithiasis in an acute lymphoblastic leukemia child during induction chemotherapy. 1848 82

A case of oxyphil cell adenoma of parathyroid is presented. A 82-year-old woman complained of back pain. Left hydronephrosis, elevated serum calcium-parathyroid hormone and a nodule in the right neck suggested functioning parathyroid adenoma. Resected adenoma (15 mm x 10 mm x 5 mm) was exclusively composed of oxyphil cell. Production of parathyroid hormone by oxyphil cells was confirmed by immunohistochemistry. This case was found to be the smallest parathyroid oxyphil cell adenoma hitherto reported that caused urolithiasis.
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PMID:[Functioning oxyphil cell adenoma of parathyroid diagnosed with ureteral stone]. 1980 May 55

Urolithiasis in pediatric patients is relatively rare. Extracorporeal shock wave lithotripsy and endoscopic procedures play a major role in treating pediatric urolithiasis. A 3-year-old girl presented with macroscopic hematuria and right back pain and was diagnosed with a right renal stone (15 mm). Obstruction of ureteropelvic junction was suspected on computed tomography-urography and therefore the patient underwent percutaneous nephrolithotripsy (PNL). The operation was performed using a 12 Fr miniature nephroscope and Ho : YAG laser without any complications. This patient achieved a stone-free status. The stone analysis revealed a mixture of calcium oxalate and ammonium acid urate. PNL with a miniature nephroscope is safe and effective treatment for pediatric urolithiasis.
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PMID:[A case of percutaneous nephrolithotripsy for pediatric renal stone]. 2141 39

Incidence of urolithiasis is on the rise due to climatic changes especially global warming.The pain due to presence of ureteric stone is a well known identity but many times it may be asymptomatic or even masked by concurrent presence of backache. In the present article, we describe the case of a 43-year-old male who came to the clinic for treatment of backache persisting for more than two years. The patient complained of backache two years back for which he was treated with analgesics and physiotherapy which relieved his pain. No X-ray was taken earlier because the attending clinician thought the backache to be musculo-skeletal in origin. Recently, one day a sudden episode of backache in the midst of night compelled him to seek medical treatment. However, this time a X-ray was performed and it showed the presence of calculi in the right upper pelvis of ureter which measured 1.9 cm vertically. An ultrasound confirmed the diagnosis. The patient was treated with two episodes of shock wave therapy which failed to crush the stone. A Double-J stent was inserted under general anaesthesia. The stone was crushed using a ureteroscope guided laser. The present case report describes how backache in professionals cannot be lightly attended. Even the characteristic groin to loin pain may be absent. All cases of backache should be properly investigated with an X-ray to rule out renal or ureteric calculi.
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PMID:Ureteric stone in the presence of existing backache: lessons to learn. 2236 29

Purpose: To review the literature on optimal methods of drainage for obstructive urolithiasis in adult patients, comparing percutaneous nephrostomy (PCN) with retrograde ureteral catheterization (Double J [JJ]) regarding success of procedure, efficacy, complications, quality of life (QoL), and costs. Methods: Web of Science and the Medline, Embase, Emcare, and Cochrane controlled trial databases were searched for all relevant publications until November 2018. A review protocol was created, using the PRISMA statement. Two reviewers independently screened the titles and abstracts in Endnote X8, using criteria as stated in the research protocol. A total of 1108 abstracts were screened of which 9 were included in the qualitative synthesis. Level of evidence of the studied articles varies between 1b and 2c. Results: Both JJ and PCN have high success rates (80%-100% and 99%-100%, respectively). No major complications were reported in both groups. Procedural and fluoroscopy times are significantly shorter for JJ than for PCN (31-33 minutes vs 35-49 minutes and 5 minutes vs 7 minutes, respectively). Time to clinical improvement did not differ. In the JJ group, analgesics were used more frequently than in the PCN group. Data regarding procedural costs were contradictory, but overall the PCN group was associated with higher costs. In pregnant women, PCN placement appears to be significantly more effective than placement of JJ. A significant decrease between pre- and postintervention QoL was found with patients receiving a JJ. Back pain was reported more frequently in the PCN group, urinary symptoms were more common in the patients with a JJ. Conclusions: Both PCN and JJ have comparable success rates for patients with obstructive urolithiasis and procedure-related complications are rare. Overall, higher rates of sepsis, longer hospital stay, and higher costs were found in the PCN group, but that could be explained by patient selection. Patients with JJ experienced a lower QoL and experience more lower urinary tract symptoms.
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PMID:Lessons from Literature: Nephrostomy Versus Double J Ureteral Catheterization in Patients with Obstructive Urolithiasis-Which Method Is Superior? 3125 Jun 80


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