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PubMed1996

A common molecular basis for three inherited kidney stone diseases.

Kidney stones (nephrolithiasis), which affect 12% of males and 5% of females in the western world, are familial in 45% of patients and are most commonly associated with hypercalciuria. Three disorders of hypercalciuric nephrolithiasis (Dent's disease, X-linked recessive nephrolithiasis (XRN), and X-linked recessive hypophosphataemic rickets (XLRH)) have been mapped to Xp11.22 (refs 5-7). A microdeletion in one Dent's disease kindred allowed the identification of a candidate gene, CLCN5 (refs 8,9) which encodes a putative renal chloride channel. Here we report the investigation of 11 kindreds with these renal tubular disorders for CLCN5 abnormalities; this identified three nonsense, four missense and two donor splice site mutations, together with one intragenic deletion and one microdeletion encompassing the entire gene. Heterologous expression of wild-type CLCN5 in Xenopus oocytes yielded outwardly rectifying chloride currents, which were either abolished or markedly reduced by the mutations. The common aetiology for Dent's disease, XRN and XLRH indicates that CLCN5 may be involved in other renal tubular disorders associated with kidney stones.

Amino Acid Sequence↗
PubMed2000

Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease.

BACKGROUND: Dent's disease is an X-linked renal tubular disorder that is characterized by low molecular weight proteinuria, hypercalciuria, nephrolithiasis, and renal failure. The disease is caused by inactivation of a renal chloride channel gene, CLCN5, that encodes a 746-amino acid protein with 12 to 13 transmembrane domains. The Japanese variant of Dent's disease has been observed to be less severe, and we have investigated two unrelated Japanese families for CLCN5 mutations. METHODS: Six patients from two unrelated families were studied. Leukocyte DNA from probands was used with CLCN5-specific primers for polymerase chain reaction (PCR) amplification of the coding region and exon-intron boundaries, and the DNA sequences of the products were determined to identify abnormalities in the gene. RNA extracted from the kidney, leukocytes, or urine sediments was used to characterize further the effects of the identified mutations. RESULTS: beta2-microglobulinuria was detected in five patients, hypercalciuria in two patients, nephrolithiasis in three patients (2 of whom were females), and one 51-year-old man had renal failure. Two novel CLCN5 mutations consisting of an a to g transition at the invariant ag acceptor splice site of intron 5 and an intragenic deletion that encompassed the region between intron 3 and intron 6 were identified. The acceptor splice site mutation led to the utilization of two alternative cryptic splice sites in exon 6 that resulted in a frameshift or skipping of the exon 6. The deletional mutation, which resulted in a loss of exons 4, 5, and 6, is predicted to lead to a loss of domains 1 through 4. Both mutations predict truncated chloride channels that are likely to result in a functional loss. CONCLUSIONS: The observations of renal failure in one male and nephrolithiasis in two females represent important new findings in this Japanese variant of Dent's disease that is associated with CLCN5 mutations. In addition, our study is the first to demonstrate the use of urinary sediment cells and renal tissue for the detection of CLCN5 transcript abnormalities. These results help to expand the spectrum of CLCN5 mutations associated with Dent's disease.

Adult↗
PubMed1999

Familial calcium stone disease: TaqI polymorphism and the vitamin D receptor.

BACKGROUND AND OBJECTIVE: Calcium nephrolithiasis has a strong familial component. However, to date, no specific genetic abnormality has been identified. Allelic variation in the vitamin D receptor (VDR) gene has been suggested as a partial explanation of differential calcium absorption or excretion in these patients. Polymorphism of this gene has been associated with altered vitamin D activity and has been implicated in osteoporosis and prostate cancer. We propose that a similar association may be found between familial hypercalciuric stone disease and the VDR. SUBJECTS AND METHODS: Genomic DNA was isolated from 37 controls and 19 patients with hypercalciuria (> 250 mg/24 hours) and a family history of nephrolithiasis. A 740-basepair segment of the VDR gene was amplified by polymerase chain reaction, digested with TaqI endonuclease, and resolved by gel electrophoresis. Alleles were classified as "T" if only one TaqI site was present and "t" if two were present. A simplified strength of family history score (FHS) was computed by adding 2 and 1 points, respectively, for each first- and second-degree relative affected by stone disease. RESULTS: No difference in allelic or genotypic frequencies between the study and control groups was present. In the stone group, a significant association was found between the strength of the family history and the TT genotype. Patients with this genotype had an average FHS of 4.0, whereas the mean FHS for the Tt and tt genotypes was 2.0 and 1.8, respectively (P < 0.05). Nonsignificant trends of the TT genotype toward a higher number of stone episodes (19 v 13 and 3) and higher 24-hour urine calcium excretion (408 v 297 and 353 mg) were also noted in the study group. CONCLUSION: The results suggest that the TT genotype is associated with more aggressive stone disease, both within families and with respect to recurrence. Quantifying the risk of calcium stone disease through DNA markers has potential application in determining the risk of a patient's family members for nephrolithiasis or a patient's risk of recurrence. This information may have therapeutic implications with regard to the rigor of medical therapy and frequency of follow-up.

Alleles↗
PubMed2004

The primary stone event: a new hypothesis involving a vascular etiology.

PURPOSE: We detail a new hypothesis regarding a vascular phenomenon as the primary event in the formation of urolithiasis. MATERIALS AND METHODS: A complete MEDLINE search was performed to examine the existing literature regarding the etiology of nephrolithiasis. In addition, urinary calculi were retrieved from 11 patients undergoing percutaneous nephrolithotomy and analyzed for total and esterified cholesterol content. RESULTS: A review of the literature on stone disease revealed many factors inconsistent with the current paradigm of the initiation of nephrolithiasis. These arguments can be based and classified on epidemiological, clinical, physiological, anatomical, and molecular data. In our stone analysis free and esterified cholesterol were found in varying quantities between 0.058 and 2.258 microg/mg stone and 0.012 and 0.777 microg/mg stone, respectively. Esterified cholesterol was found to comprise 75% of total serum cholesterol. In urinary stones esterified cholesterol accounted for 14% to 16% of total cholesterol and the esterified-to-free cholesterol ratio appeared to be related to stone composition. CONCLUSIONS: Numerous inconsistencies exist between current theories of the initial event in nephrolithiasis formation and empirical observational data on stone disease. Our review of the literature and our study of the cholesterol content of renal stones support a new theory regarding the initial stone forming event. We base this novel hypothesis on multiple epidemiological, physiological, anatomical and clinical observations. Further studies are required to confirm this hypothesis and its clinical usefulness.

Cholesterol↗
PubMed2003

Associations among disease conditions, bone mineral density, and prevalent vertebral deformities in men and women 50 years of age and older: cross-sectional results from the Canadian Multicentre Osteoporosis Study.

This cross-sectional cohort study of 5566 women and 2187 men 50 years of age and older in the population-based Canadian Multicentre Osteoporosis Study was conducted to determine whether reported past diseases are associated with bone mineral density or prevalent vertebral deformities. We examined 12 self-reported disease conditions including diabetes mellitus (types 1 or 2), nephrolithiasis, hypertension, heart attack, rheumatoid arthritis, thyroid disease, breast cancer, inflammatory bowel disease, neuromuscular disease, Paget's disease, and chronic obstructive pulmonary disease. Multivariate linear and logistic regression analyses were performed to determine whether there were associations among these disease conditions and bone mineral density of the lumbar spine, femoral neck, and trochanter, as well as prevalent vertebral deformities. Bone mineral density measurements were higher in women and men with type 2 diabetes compared with those without after appropriate adjustments. The differences were most notable at the lumbar spine (+0.053 g/cm2), femoral neck (+0.028 g/cm2), and trochanter (+0.025 g/cm2) in women, and at the femoral neck (+0.025 g/cm2) in men. Hypertension was also associated with higher bone mineral density measurements for both women and men. The differences were most pronounced at the lumbar spine (+0.022 g/cm2) and femoral neck (+0.007 g/cm2) in women and at the lumbar spine (+0.028 g/cm2) in men. Although results were statistically inconclusive, men reporting versus not reporting past nephrolithiasis appeared to have clinically relevant lower bone mineral density values. Bone mineral density differences were -0.022, -0.015, and -0.016 g/cm2 at the lumbar spine, femoral neck, and trochanter, respectively. Disease conditions were not strongly associated with vertebral deformities. In summary, these cross-sectional population-based data show that type 2 diabetes and hypertension are associated with higher bone mineral density in women and men, and nephrolithiasis may be associated with lower bone mineral density in men. The importance of these associations for osteoporosis case finding and management require further and prospective studies.

Aged↗
PubMedDate not supplied

Renal stones: from metabolic to physicochemical abnormalities. How useful are inhibitors?

Despite intensive studies in the last decades many aspects of nephrolithiasis still remain to be elucidated. Supersaturation with respect to lithogenic substances explains stones composed of cystine, uric acid, struvite, and calcium stones secondary to systemic diseases. In this subset there is a clear separation between patients and controls, and stone activity is well related to alterations in the physicochemistry of the urine environment. The understanding of the mechanisms of idiopathic calcium nephrolithiasis, on the other hand, is controversial, because we are still unable to establish clear-cut cause-effect relations between metabolic and physicochemical abnormalities and stone formation. Recent studies have been centered on the kidney, not only as the end organ of biochemical derangements due to systemic or environmental factors, but also as a complex laboratory where some events conduct to and others defend from lithogenesis. Many of these phenomena occur in the proximal tubule. Molecular biology has explained some types of hypercalciuria, which are due to genetic mutations altering tubular function, and similar results are expected for hypocitraturia and hyperoxaluria. The latter is conducive to stone formation through several mechanisms including supersaturation, oxidative stress on tubular cells, and interference with some natural inhibitors. The long list of inhibitors includes ionic and macromolecular moieties, some being produced within the nephron in response to lithogenic insults, and some affecting not only crystallization but also crystal cell adherence. Crystal trapping is believed to anticipate a renal stone. However, much has still to be clarified on their actual role in calcium nephrolithiasis, by what mechanisms they act, if patients and controls differ in the excretion and structure of some inhibitors, and whether differences are genetically determined.

Chemical Phenomena↗
PubMedDate not supplied

Idiopathic external root resorption associated to hypercalciuria.

Although external root resorption (ERR) is a physiological process in deciduous dentition, it is very infrequent in permanent dentition - where the phenomenon is related to the existence of inadequate occlusal forces, periodontal pathology and microtraumatisms, etc. However, in many cases root resorption cannot be attributed to any concrete cause; such cases are defined as idiopathic external root resorption (IERR). Epidemiological studies have found that the underlying cause can only be established in 5% of all ERR. The present study describes three cases of IERR with different degrees of involvement and associated to mild calciuria and a history of nephrolithiasis. Hypercalciuria with normal blood calcium levels is usually idiopathic and exhibits a familial trait, with a prevalence of 20-40 cases per 1,000 individuals in adults. A form of hypercalciuria associated to nephrolithiasis with a mutation of the CLCN5 gene has been identified, involving low molecular weight proteinuria - though this mutation has not been uniformly demonstrated in most cases of idiopathic hypercalciuria. The peculiarity of the cases described in the present study is attributable to the coexistence of IERR with normocalcemic hypercalciuria and nephrolithiasis - thus pointing to the need for in-depth evaluation of the possible association of these three clinical situations.

Adolescent↗
PubMed2003

Urolithiasis in pregnancy. Diagnosis, management and pregnancy outcome.

OBJECTIVE: To review our experiences with ureterolithiasis and nephrolithiasis in pregnancy and compare their outcomes with those in the rest of the obstetric population. STUDY DESIGN: A database of obstetric deliveries was used to identify patients with (cases) and without (controls) urolithiasis and to compare demographics and pregnancy complications between the groups. Furthermore, retrospective chart review of the cases group was utilized to obtain additional pertinent information. RESULTS: Over a 3-year period, there were 21,010 deliveries, 86 of which had symptomatic urolithiasis, for an incidence of 1 in 244 pregnancies. Renal calculi occurred more commonly in Caucasians than African Americans. Patients were more likely to become symptomatic in the second or third trimester, and most stones passed spontaneously. Pregnancy complications were similar between the groups; however, there was a higher percentage of preterm premature rupture of membranes in the nephrolithiasis cases (7.0% vs. 2.9%, P < .05). CONCLUSION: Nephrolithiasis and ureterolithiasis occurred more commonly in Caucasians during pregnancy. The majority of patients became symptomatic in the last two-thirds of pregnancy and usually passed the calculus spontaneously. A higher incidence of preterm premature rupture of membranes was noted in pregnancies complicated by urolithiasis.

Adult↗
PubMedDate not supplied

[Operative treatment of kidney calculi].

262 cases of coral nephrolithiasis (CN) treated for the last 5 years (mean age 51.6 years) have been analysed. Of them, 46 (17.9%) patients have undergone 2 to 4 operations, 14 (5.4%) patients had bilateral nephrolithiasis. Open surgical interventions (section nephrolithotomy, pyelonephrolithotomy) were performed in 31 and 106 patients, respectively. All of them had a severe form K-3 or K-4. Extracorporeal shock-wave lithotrophy (ESWL) was conducted in 72 (27.5%) patients with coral concrements K-1, K-2. 'Mean number of the procedures per a stone was 4.2. Transcutaneous puncture nephrolithotripsy (TPNT) was made in 53 (20.2%) patients (K-2, K-3). The results of the treatment were assessed at discharge and 12 months after it. The efficacy of the treatment was judged by completeness of the stone elimination, postoperative complications and interventions to correct these complications. Open operations eliminated the stones completely in 71.2% patients, in combination with ESWL--in 91.6%, TPNT--in 78%, in combination with ESWL--in 94.5%. Efficacy of ESWL as monotherapy + stent reached 68.1%. Open operations entailed complications in 41.6% (of them 68.5% in section nephrolithotomy), TPNT--in 18.2%, ESWL--in 16.3%. Coral nephrolithiasis should be treated by skilled specialists in clinics furnished with modern facilities, combination of which minimizes traumatic complications and raises treatment efficacy.

Adolescent↗
PubMedDate not supplied

Novel mutations of the AGXT gene causing primary hyperoxaluria type 1.

BACKGROUND: Primary hyperoxaluria type 1 (PH1), an inherited cause of nephrolithiasis, is due to a functional defect of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT). A definitive PH1 diagnosis can be established by analyzing AGT activity in liver tissue or mutation analysis of the AGXT gene. METHODS: The molecular basis of PH1 in three Chinese patients, two with adult-onset and one with childhood-onset recurrent nephrolithiasis, was established by analyzing the entire AGXT gene. RESULTS: Three novel mutations (c2T>C, c817insAG and c844C>T) and two previously reported mutations (c33insC and 679-IVS6+2delAAgt) were identified. c2T>C converts the initiation codon from ATG to ACG, which predicts significant reduction, if not complete abolition, of protein translation. c817insAG leads to a frameshift and changes the amino acid sequence after codon 274. c844C>T changes glutamine at codon 282 to a termination codon, resulting in protein truncation. CONCLUSIONS: This is the first report describing AGXT gene mutations in Chinese patients with PH1. AGXT genotypes cannot fully explain the clinical heterogeneity of PH1, and other factors involved in disease pathogenesis remain to be identified. Our experience emphasizes the importance of excluding PH1 in patients with recurrent nephrolithiasis to avoid delay or inappropriate management.

Adult↗
PubMed1992

Renal calculi: pathogenesis, diagnosis, and medical therapy.

Selective medical therapy of nephrolithiasis is highly effective in preventing new stone formation. A remission rate of greater than 80% and an overall reduction in individual stone formation rate of greater than 90% can be obtained in patients with nephrolithiasis. In patients with mild to moderate severity of stone disease, virtually total control of stone disease can be achieved with a remission rate of greater than 95%. The need for stone removal may be dramatically reduced by an effective prophylactic program (Fig 6). Selective pharmacological therapy of nephrolithiasis also encompasses the advantages of overcoming nonrenal complications as well as averting certain side effects that may be caused by nonselective medical therapy. Despite these advantages, it is clear that selective medical therapy cannot provide total control of stone disease. A satisfactory response requires continued, dedicated compliance by patients to the recommended program and a commitment by the physician to provide long-term follow-up and care.

Calcium↗
PubMed2006

[Ultrasound diagnostics of upper urinary tract calculi].

The review is dedicated to ultrasonography of the upper urinary tract in patients with nephrolithiasis. Ultrasonographic semiotics of urolithiasis, the ability of unlrasonography to detect nephrolithiasis, and methods of the optimization of these diagnostic techniques in patients with upper urinary tract calculi are covered. The author discusses difficulties that may be faced while differentiating between nephrolithiasis and such conditions as spongious kidney, nephrocalcinosis, calcification of renal papillae, cysts, tumors, and vascular walls, as well as other kinds of renal calcification, associated with ultrasonographic acoustic path phenomenon. The advantages and disadvantages of ultrasonography in cases of X-ray urolithiasis are evaluated in the paper. The article describes hardships in ultrasound visualization of ureteral calculi causing acute upper urinary tract obstruction, and the ways of getting over them.

Diagnosis, Differential↗
PubMedDate not supplied

[Retrograde nephrostomy in the treatment of kidney stones].

Transcutaneous nephrolithotomy is widely used in management of nephrolithiasis. The outcome of the intervention is largely due to successful establishment of nephrostoma. For this purpose retrograde nephrostomy was employed in 7 nephrolithiasis patients. Relevant technique is described for primary and recurrent disease. Its indications involve absence of calyceal-pelvic dilation, obesity, pararenal cicatrices. The manipulation appeared beneficial in all the cases. Retrograde nephrostomy is considered an alternative to antegrade nephrostomy in the treatment of nephrolithiasis.

Adult↗
PubMed1990

[Hyperuricemia--does modern therapy improve life expectancy?].

Today hyperuricaemia and gout are likewise seen in every population of the western industrial world and have been increasing since the fifties. As known from number of studies hyperuricaemia often occurs in connection with hyperlipoproteinaemia, obesity, diabetes mellitus, arterial hypertension and atherosclerosis. Up to now it was not clear whether one disease caused the other. In 1988 Abbot could prove that among men, those afflicted by gout as compared to those without gout experienced a 60% excess of coronary heart disease. Therefore, patients with gout should receive a regular thorough cardiovascular evaluation. Furthermore risk factor levels which predispose to coronary heart disease, arterial hypertension and gout should be reduced. There is a significant positive correlation between the plasma uric acid levels and the prevalence of attacks of gouty arthritis and nephrolithiasis. It is possible to avoid gouty arthritis, tophi and nephrolithiasis with a consequent diet and medical treatment. Unfortunately, many patients interrupt therapy during intervals free of pain. The consequence is that even today the complications of hyperuricaemia cause days of inability to work and to earn one's living, despite of modern therapy. Hyperuricaemia not sufficiently treated reduces the quality of life through attacks of gout, chronic gout and nephrolithiasis as well as life expectancy caused by nephropathy, arterial hypertension and atherosclerosis. This is of special importance because of the frequency of gout and hyperuricaemia in our population. An early diagnosis, a consistent therapy and a thorough monitoring could stop an increase of this disease and prolong life expectancy for those who have gout and the other attendant diseases.

Cause of Death↗
PubMed1986

Circulating concentrations of 1,25-dihydroxyvitamin D3 in patients with primary hyperparathyroidism.

Vitamin D metabolism was studied in 65 patients with surgically proven primary hyperparathyroidism. The mean concentration of 1,25-dihydroxyvitamin D3 was 51.7 +/- 34 pg/ml (mean +/- SD) and was not significantly different from normal. Renal function was normal in 60 of these patients and in this group circulating 1,25-dihydroxyvitamin D3 was below the lower limit of normal in three and elevated in 17; it was related to the serum concentrations of amino-terminal parathyroid hormone, but was independent of serum calcium and the urinary excretion of calcium. The incidence of nephrolithiasis or hyperparathyroid bone disease or combined nephrolithiasis and bone disease in these patients was not related to the circulating concentration of 1,25-dihydroxyvitamin D3. In the remaining five patients, in whom renal impairment was present, circulating 1,25-dihydroxyvitamin D3 was below the lower limit of normal in four. Thus, in primary hyperparathyroidism the circulating concentration of 1,25-dihydroxyvitamin D3 is elevated in only a minority of patients and appears to be unrelated to the occurrence of nephrolithiasis or bone disease.

Adolescent↗
PubMed1987

Pharmacologic treatment of calcium calculi.

Selective pharmacologic therapy of calcium nephrolithiasis is highly effective in preventing new stone formation. A remission rate of greater than 80 per cent and overall reduction in individual stone formation rate of greater than 90 per cent can be obtained in patients with calcium nephrolithiasis. In patients with mild-to-moderate severity of stone disease, virtually total control of stone disease can be achieved as evidenced by remission rates of greater than 95 per cent. The need for stone removal may be dramatically reduced by an effective prophylactic program. Selective pharmacologic therapy of calcium nephrolithiasis also encompasses the advantages of overcoming the nonrenal manifestations of conditions that cause stone formation as well as averting certain side effects that may be caused by nonselective medical therapy. Despite these advantages, selective medical therapy clearly cannot provide total control of stone disease. A satisfactory response requires continued, dedicated compliance by patients to the recommended program and a commitment of the physician to provide long-term follow-up and care.

Benzothiadiazines↗
PubMed1985

Prognosis of urolithiasis and nephrocalcinosis in hypomagnesemia.

In 78 patients with hypomagnesemia in urolithiasis the clinical course of disease was established in relation to therapy and dynamics of changes of serum magnesium levels. Almost 70% of patients had multiple, bilateral or recurrent nephrolithiasis or nephrocalcinosis. 70% of patients had Ca-oxalate stones or bilateral nephrocalcinosis. In 52% of patients a long-term magnesium supplementation was necessary. Significant progress of nephrolithiasis and nephrocalcinosis was observed in 80% of patients with permanent hypomagnesemia and in 4% of patients with normalization of serum magnesium level. Three of 15 patients with hypomagnesemia and progress of disease were transplanted a kidney and two were treated by hemodialysis. All five patients with renal failure had bilateral nephrocalcinosis, in three of them familiar occurrence of nephrolithiasis and hypomagnesemia was found.

Adolescent↗
PubMed1982

[Familial and endemic character of renal calculi].

After a brief literature survey on the role of the exogenous factors and the dat about the endemic spread of the disease in some regions of the world, the author describes own observations upon 5 families with several members suffering from nephrolithiasis. An opinion is presented that in case of family nephrolithiasis a polygenic (multifactorial) disease is concerned, environmental and genetic factors participating in its etiology. The endemic spread of nephrolithiasis is explained by endogenous factors mainly, searched in the geno-fund of the population from those regions of the world.

Aged↗