Clinical and metabolic features of urolithiasis and microlithiasis in children

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.     

An unusual presentation of occult spinal dysraphism

Occult spinal dysraphism can lead to irreversible neurological complications, early diagnosis and treatment are necessary. It can be suspected from the presence of any cutaneous abnormality. We report a case with bony spur formation on the top of the 5th lumbar vertebra spinose process covered with skin mimicking a meningocel sac. By the help of this bony spur tethered cord could be diagnosed before any neurological deficit.     

The metabolic etiology of urolithiasis in Turkish children

Pediatric urolithiasis is an endemic disease, especially in certain developing regions of the world, such as the Far East, and to a certain extent the Middle East and Turkey. The aim of the study is to determine the metabolic etiology and the prevalence of formation of urinary calculi in Turkish pediatric patients with urolithiasis. Seventy-two pediatric patients diagnosed as having urolithiasis were studied from 1999–2005 in Dr. Behcet Uz Child Disease and Surgery Education and Research Hospital Nephrology Department, Izmir, according to their presenting signs and clinical and laboratory findings. The other necessary tests were also applied to detect the etiology of the calculi formation. Of the 72 patients, 50 (69.4%) were male and 22 (30.6%) were female, with ages ranging from 2 to 168 months (mean age 72 ± 35.7 months), and the male-to-female ratio of patients was 2.3. Twenty-four (33%) of them were diagnosed as having metabolic urolithiasis, 21 (30%) anatomic, 19 (26%) infectious and 8 (11%) idiopathic. The age at which urolithiasis was first diagnosed was found to be low in the metabolic and anatomic etiology groups (P = 0.028). Thirteen patients (18%) with urolithiasis were known to have a family history of stone disease, and in all of them metabolic etiology was considered to be the reason (P < 0.001). In all of the groups, the localization of the stone was found to be the upper urinary system most of the time, and in 17 (24%) with bilateral multiple stones, the etiology was found to be metabolic (P < 0.001). All of the patients were followed up for 3–72 months (mean 29.2 ± 13.7 months), and four of them (5.5%) had recurrences. In order to prevent renal damage and recurrences in pediatric patients with urolithiasis in Turkey in whom the etiology is mostly metabolic, the illnesses must be investigated very cautiously, and their early diagnosis and treatment modalities must be considered.     

Metabolic features and renal outcomes of urolithiasis in children

Aim: The incidence of pediatric urolithiasis has increased over the last century because of dietary changes, metabolic abnormalities, climate change, and genitourinary abnormalities. Data on pediatric urolithiasis in non-endemic countries are limited. The aim of this study was to evaluate the clinical findings and metabolic etiology of urolithiasis in Korean children. Material and methods: The medical records of 73 Korean children who were newly diagnosed with urolithiasis from January 2010 to December 2013 were retrospectively analyzed. Evaluation of metabolic risk factors, including hypercalciuria, hyperuricosuria, hypomagnesuria, hyperoxaluria, and hypocitraturia, required analysis of 24-h urine specimens or, alternatively, for infants and toddlers, the solute-creatinine ratio in spot urine. Results: The male-to-female ratio of the included patients was 1.3:1. The median age at diagnosis was 10.1 years, and the patients were divided into two age groups with pre-school-age children (n?=?27, 37.0%) and school-age children (n?=?46, 63.0%). While flank pain was more common in school-age children, incidentally detected or urinary tract infection (UTI)-associated urolithiasis was more common in pre-school-age children. Eight patients (11.0%) had renal function deterioration associated with urolithiasis, and three patients (4.1%) progressed to chronic kidney disease. Metabolic abnormalities according to urine chemistry were found in 30 patients (41.1%), including hypercalciuria in 21.9%, hyperuricosuria in 11.0%, hypomagnesuria in 4.1%, hyperoxaluria in 1.4%, hypocitraturia in 1.4%, and cystinuria in 1.4%. Conclusion: We suggest that school-age children with renal colic and pre-school-age children with UTI should be evaluated for urolithiasis. Additionally, the evaluation for metabolic risk factors is important in order to prevent recurrence and renal insufficiency.     

Clinical patterns of paediatric urolithiasis

A series of 270 paediatric stone patients was studied retrospectively according to the clinical pattern of urolithiasis (age and sex, stone location, stone analysis, recurrence rate) and aetiology of stone disease (infection, anatomical, metabolic or idiopathic). Infection stones occurred earliest and more commonly in males and were usually upper tract struvite calculi related to Proteus infection. Anatomical stones were most commonly associated with pelviureteric junction (PUJ) obstruction and had a high recurrence rate, despite surgical correction of obstruction. Idiopathic stones most resembled those found in adult urolithiasis by virtue of occurring latest, being sited in the ureter more often and being more frequently composed of calcium oxalate. Metabolic stones were most frequently calcium phosphate or cystine and virtually all were renal. They comprised the smallest group but had the highest recurrence rate.     

Clinical presentation and pathological features of atypical subtrochanteric fracture after bisphosphonate treatment

In recent years, there have been increasing reports of fractures associated with long-term bisphosphonate treatment. Clinical presentation should be examined carefully because fractures after long-term bisphosphonate treatment present typical symptoms and radiological and pathological findings. The unique clinical features of such fractures include prodromal thigh pain and complete absence of trauma. The radiological features include stress reaction of the thickened cortex and transverse or short oblique fractures on plain-film radiography and bone marrow edema on magnetic resonance imaging. Careful surveillance and early preventive internal surgical fixation must be considered by both orthopedic and non-orthopedic physicians. In this study, we reviewed recent articles on atypical subtrochanteric fractures after long-term bisphosphonate treatment. We also present the case of a 72-year-old woman with this type of a fracture who had been using a bisphosphonate for 2?years. The findings at presentation and pathological features of the fracture are discussed, including those of imaging studies, and the treatment administered is described.     

Updated epidemiologic study of urolithiasis in Turkey II: role of metabolic syndrome components on urolithiasis

The components of metabolic syndrome, such as obesity, hypertension, and diabetes, are thought to be associated with urolithiasis. However, there are few large-scale studies that have examined the association between metabolic syndrome and urolithiasis, which prompted us to study and evaluate the relationship between metabolic syndrome components and urolithiasis in a nationwide survey, using the cross-sectional study conducted by a professional investigation company, with 2,468 enrolled participants, aged between 18 and 70 years, from 33 provinces in Turkey. Participants were interviewed face-to-face by medical faculty students. Participants with a history of urolithiasis (Group 1) were compared with participants without a history of urolithiasis (Group 2) in terms of hypertension, diabetes, body-mass index (BMI), waist size, and trouser size using Chi-square and odds ratio tests. Of the 2,468 participants, 274 (11.1%) reported a history of urinary stone disease diagnosed by a physician. The percentage of participants with hypertension along with urolithiasis was significantly higher than that in participants without urolithiasis (16.9 and 34.3%, p 0.000, OR 3.0). The percentage of participants with diabetes in groups 1 and 2 was 14.2 and 9%, respectively (p 0.001, OR 1.83). The mean BMI was 27.2 and 25.2, respectively (p 0.01). Participants with a BMI >30 had a 2.2-fold increased risk of having urolithiasis. The mean waist size was significantly greater in participants with urolithiasis (p 0.000). Those with a waist size >100 cm had a 1.87-fold increased risk of having urolithiasis. The mean trouser size was also significantly larger in those participants who were stone formers (p 0.003). The results indicate that metabolic syndrome components are important factors in the development of urolithiasis.     

Clinical experience with pediatric urolithiasis

Our clinical experience with 47 pediatric patients with stones is reviewed. Surgical therapy was standard with successful stone manipulation in 12 of 13 patients. In 91 per cent of our patients factors causing or predisposing to stone disease were discovered. A thorough metabolic evaluation, including an oral calcium loading test in 20 children, proved to be helpful. A new patient subgroup relating unexplained hematuria to eventual stone formation is described. Our protocol for metabolic evaluation and recommendations for treatment based on the results of such an evaluation are given. We have found the metabolic evaluation of the child with stones meaningful and particularly helpful in planning subsequent therapy for these patients.     

A family-based study of metabolic phenotypes in calcium urolithiasis

BACKGROUND: A family history increases the risk of kidney stone passage independent of dietary risk factors. However, the metabolic basis for familial aggregation of urolithiasis is unknown. METHODS: We evaluated metabolic risk factors in families with at least two sibs with a history of calcium stones. Sibs underwent outpatient evaluations simultaneously, including 24-hour urine collection and oral calcium loading. Phenotypes were compared between affected and unaffected sibs from the same sibship. RESULTS: Eighty-three sibships comprising 388 sibs (212 affected sibs, 114 males and 98 females, and 176 unaffected sibs, 68 males and 108 females) from 71 families were analyzed. Daily urine calcium excretion was higher in affected compared with unaffected sibs (0.64 +/- 0.33 vs. 0.50 +/- 0.22 mmol Ca(2+)/mmol creatinine, respectively, P < 10(-5)). This corresponded to absolute values of 7.4 +/- 3.9 and 5.1 +/- 2.3 mmol Ca(2+)/day, respectively, for affected and unaffected males, and 5.4 +/- 2.6 and 4.2 +/- 1.9 mmol Ca(2+)/day, respectively, for affected and unaffected female sibs. When analyzed by tertile of onset age of stone passage, the differences in urine calcium were only significant in the first two tertiles (with onset age of stone passage <35 years). The fasting urine Ca(2+)/creatinine ratio was significantly higher in stone formers compared with control sibs (0.46 +/- 0.27 vs. 0.40 +/- 0.27, P = 0.04), as was the postcalcium load Ca(2+)/creatinine ratio (0.57 +/- 0.46 vs. 0.43 +/- 0.41, respectively, P = 0.02). Body mass index was marginally significantly higher in stone forming sibs (P = 0.04). Other urine phenotypes, including oxalate, phosphate, magnesium, citrate, urate, sodium, ammonium, and volume, were not associated with stone passage. CONCLUSION: Increased urine calcium excretion is the only phenotype associated with a kidney stone formation in these French-Canadian families.     

Clinical risk index in urolithiasis

Various risk indices have been propounded by various authors to assess the severity of stone formation in the human urinary tract. However, most of these indices are laboratory oriented and not feasible to be performed in a hospital setting. Most of these also do not take into consideration all the possible influences on stone formation. In this paper, the correlation of various clinically relevant risk indices has been assessed to understand the relevance of the prediction in the possibility of future stone formation. 500 stone patients were studied to find out the various possible risk factors. The total score of the index was fixed as 100. Forty three variables were used to calculate the index, and each variable was given a score ranging from one to eight. They included the following: age 20–40 (1), sex (2), family history (3), Gulf returned (1), external occupation (1), primary (1), recurrent (5), symptoms (2), RBC (1), PC (1), COD (1), COM (2), UA (2), crystal aggregation (2), urinary infection (1), pH below 6 (1), bilateralism (2), kidney/U/B/U (1), passer (2), multiple organs (2), multiple number (2), incomplete removal (5), serum calcium (3), serum phosphorus (1), serum magnesium (1), serum creatinine (1), serum uric acid (4), urine volume (1), urine specific gravity (1), urine calcium (1), urine phosphorus (1), urine uric acid (5), urine magnesium (2), urine oxalate (8), urine citrate (8), calcium magnesium ratio (2), creatinine clearance (1), tubular reabsorption of phosphate (4), urine calcium oxalate ratio (2), urine oxalate citrate ratio (5), urine oxalate uric acid ratio (2), urine calcium uric acid ratio (2), stone COM/COD (2) and stone UA/cystine (2). After calculating the index, it was correlated with the clinical severity index. The severity status of each patient was considered as +/++/+++/++++ (nil/low/moderate/severe) depending on the status of the disease in long term assessment. In 127 patients, the risk index was calculated after a period of over 1 year to see the change in index score. On calculating the risk index and correlating with the severity grade of the stone disease, the correlation coefficient r value was +0.67 which was significant at P < 0.001 level. The risk index could be altered by dietary habit changes, drugs, life style changes, and appropriate drug schedules. The second assessment after 1 year of the 127 patients showed that the mean risk index could be reduced from 43.08 to 36.56. This difference was statistically significant (P < 0.01). It is concluded that by using the present clinical risk index assessment, it is possible to arrive at a prediction regarding future stone formation in any individual. It is also possible to reduce the risk of stone formation by dietetic and life style changes and appropriate chemotherapeutic drugs.     

Mode of presentation and first line of management of non-recurrent urolithiasis in Kuwait

AIMS: To determine the incidence, mode of presentation, first line of management and composition of non-recurrent urolithiasis in Kuwait. METHODS: Consecutive patients admitted between January 1999 and December 2002 with non-recurrent urolithiasis were prospectively analyzed. RESULTS: The average annual incidence of hospital admission for non-recurrent urolithiasis in Kuwait was 43.44 per 100,000 population, representing men and women (ratio, 9:1) with a median age of 41.91 years. Of the hospital admissions for non-recurrent urolithiasis, 57.2% of cases were acute. Overall, the most predominant symptom was flank pain, while the least common symptom was acute urinary retention. Ureteroscopic stone manipulation was the most common initial treatment modality in the present series, as it was utilized in 43.3% and 37.09% for patients admitted on elective and emergency basis, respectively. Of the calculi available for chemical analysis, 91% contained calcium, 73% contained calcium oxalate, 17% contained mixed calcium and 1% contained calcium phosphate. The composition of the rest of the stones were urate in 7%, struvite in 1% and cystine in 1%. CONCLUSIONS: Urolithiasis is a common disease in the Kuwait region that mainly presents with flank pain. Ureteroscopic calculus removal is the most common modality of treatment. The majority of the calculi seen in Kuwait contained calcium.     

Clinical studies on recurrence of urolithiasis. (2) Hypercalciuria and recurrence of urolithiasis

According to the dynamics of the urinary calcium excretion mechanism, we have classified the patients with urolithiasis into 4 groups, namely group I (normocalciuria; urinary calcium excretion of 270 mg/day or less for male patients and 210 mg/day or less for female patients), group II (absorptive hypercalciuria; hypercalciuric with urinary calcium excretion of 200 mg/day or less under the low calcium diet), group III (renal hypercalciuria; hypercalciuric with urinary calcium excretion exceeds 200 mg/day even under a low calcium diet), and group IV (hyperparathyroidism; hypercalciuric patients as in group III with high serum calcium). Of the 97 stone formers, 77 were classified into group I, 9 into group II, 8 into group III and 3 into group IV. Both under the restricted diet and under the ambulatory free diet, urinary calcium excretion of groups II, III and IV was significantly higher than that of the group I patients. It was noteworthy, however, that some of the patients in group I excreted much calcium without restriction of their diet. Although no difference in excretion of oxalate, magnesium and phosphate was observed between the 4 groups, the patients in groups II, and III excreted more uric acid into their urine than group I patients. As for stone recurrence rate, no difference was noted between group I and group II, III or IV. Based on these findings, we conclude that hypercalciuria has no significant role in the stone forming mechanism. However, lowering of urinary calcium and other stone forming constituents is mandatory in preventing stone recurrence until the mechanism of stone formation is elucidated more precisely.     

Neurological deficit as a presentation of occult metastatic thyroid carcinoma

Three cases of occult metastatic thyroid carcinoma presenting with neurological deficits are reviewed. In each case the patient's initial presentation was with symptoms of neurological deficiency secondary to a spinal cord compression. All patients received a combination of surgery, external beam radiotherapy and postoperative thyroxine treatment. Two of the three patients are alive and well, able to mobilize with minor neurological dysfunction. The diagnosis and management of the patients, as well as their outcomes are reviewed, with a discussion on further management issues alongside a review of the current published work.     

急性酒精中毒致代谢紊乱的临床特点及救治体会

目的:探讨急性酒精中毒患者的钾、钠、氯、糖及酸碱紊乱的临床特点,提出救治方案.方法:根据意识障碍程度将重度酒精中毒患者156例分为昏睡组和昏迷组,分别测定血液中的乙醇浓度及血钾、钠、氯、糖及 pH值的变化;救治方法以液体治疗、纳络嗣应用及血液透析为主.结果:两组患者血液中乙醇浓度相比有显著性差异(P<0.01).代谢紊乱变化以代谢性酸中毒最为常见,达47.7%,其次为低钠、低钾和低氯,血糖的变化呈多样性.昏迷组患者代谢性酸中毒、低钠、低钾和低氯的发生率明显高于昏睡组(P<0.05).经有效治疗后两组患者均在入院后24h内出院.结论:量度急桂酒精中毒有较明显的代谢紊乱,应予以重视.液体治疗、纳络嗣的应用和血液透析是确切有效的治疗方法.