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PubMed1990

Nephrolithiasis and bone involvement in primary hyperparathyroidism.

PURPOSE: The purpose of this study was to compare patients with primary hyperparathyroidism with and without nephrolithiasis with regard to (1) biochemical profile, and (2) presence and extent of bone involvement. PATIENTS AND METHODS: Of 70 unselected patients enrolled in a longitudinal study on the natural history of primary hyperparathyroidism, 62 who underwent complete bone densitometry evaluation were considered. The patients had mild hypercalcemia (2.77 +/- 0.02 mmol/L), as well as elevated parathyroid hormone levels by mid-molecule, N-terminal, and immunoradiometric assays. Bone densitometry was assessed by dual-photon absorptiometry of the lumbar spine and femoral neck, and single-photon absorptiometry of the forearm. RESULTS: Eleven of the 62 patients (18%) had nephrolithiasis. There was no difference in serum parathyroid hormone levels, calcium, phosphorus, serum 25-hydroxyvitamin D, and 1,25-dihydroxyvitamin D3 between those with and without kidney stones. Total daily urinary calcium excretion was higher among those who formed stones (8.2 +/- 1.0 mmol versus 6.1 +/- 0.4 mmol, p less than 0.05), but not when expressed per mmol of creatinine (0.72 +/- 0.07 versus 0.69 +/- 0.04). Urinary hydroxyproline was also higher in patients who formed stones (58 +/- 11 mg/24 hours versus 37 +/- 2 mg/24 hours; p less than 0.05). Hypercalciuria occurred in 39% of the entire cohort (n = 24), and in 33% (n = 17) of those without stones. Only 29% (n = 7) of those with hypercalciuria had nephrolithiasis. Calcium excretion correlated positively with serum 1,25-dihydroxyvitamin D3 (r = +0.32, p less than 0.05), and negatively with forearm bone mineral density (all patients: r = -0.34, p less than 0.05; hypercalciuric patients: r = -0.53, p less than 0.05). Circulating 1,25-dihydroxyvitamin D3 levels were elevated in a similar proportion of (1) all patients (31%, n = 19); (2) those with nephrolithiasis (27%); and (3) those without stones (31%). Bone mineral density was less than 80% of normal in 61% of patients, but forearm, femoral neck, and lumbar spine density were indistinguishable among those with and without stones. CONCLUSIONS: Cortical bone demineralization occurs to the same extent and frequency in patients with and without nephrolithiasis, and these two subgroups share similar biochemical and bone densitometric profiles. The pathophysiologic events leading to renal and skeletal involvement in primary hyperparathyroidism may be less selective than previously believed, as evidenced by: (1) increased urinary hydroxyproline in patients with nephrolithiasis, and (2) documentation that urinary calcium excretion reflects not only vitamin D status, but bone resorption was well.

Bone Density↗
PubMed2005

Enteric hyperoxaluria, nephrolithiasis, and oxalate nephropathy: potentially serious and unappreciated complications of Roux-en-Y gastric bypass.

BACKGROUND: Neither the presence nor prevalence of enteric hyperoxaluria has been recognized after Roux-en-Y gastric bypass (RYGBP). We have noted a high rate of oxalate nephrolithiasis and even 2 patients with oxalate nephropathy in this patient population postoperatively. Our aim was to determine the frequency of the occurrence and effects of enteric hyperoxaluria after RYGBP. METHODS: Retrospective review of all patients at our institution diagnosed with calcium oxalate nephrolithiasis or oxalate nephropathy after standard (n = 14) or distal (n = 9) RYGBP. The mean postoperative follow-up was 55 months. RESULTS: A total of 23 patients (14 men and 9 women; mean age 45 years; mean preoperative body mass index 55 kg/m(2)) developed enteric hyperoxaluria after RYGBP, defined by the presence of oxalate nephropathy (n = 2) or calcium oxalate nephrolithiasis (n = 21) and increased 24-hour excretion of urinary oxalate and/or calcium oxalate supersaturation. Enteric hyperoxaluria was recognized after a mean weight loss of 46 kg at 29 months (range 2-85) after RYGBP. Two patients developed renal failure and required chronic hemodialysis. Of the 21 patients with nephrolithiasis, 14 had no history of nephrolithiasis preoperatively, and 19 of 21 required lithotripsy or other intervention. Of the 23 patients, 20 tested had increased oxalate excretion, and 14 of 15 tested had high urine calcium oxalate supersaturation. CONCLUSION: Enteric hyperoxaluria, nephrolithiasis, and oxalate nephropathy must be considered with the other risks of RYGBP. Efforts should be made to identify factors that predispose patients to developing hyperoxaluria.

Adult↗
PubMed1998

Association of thin basement membrane nephropathy with hypercalciuria, hyperuricosuria and nephrolithiasis.

BACKGROUND: Familial persistent microhematuria with normal renal function is the most common presentation of thin basement membrane nephropathy (TBMN). Gross hematuria episodes and loin pain attacks are other manifestations of the disease. On the other hand, it has been shown that hypercalciuria (HC) and hyperuricosuria (HU) can produce both gross or microscopic non-glomerular hematuria, in addition to their role in renal stone formation. METHODS: We studied the prevalence of HC, HU and nephrolithiasis in a group of 27 biopsy-proven TBMN as well as in 19 non-biopsied first-degree relatives with persistent microhematuria and 25 first-degree relatives without microhematuria. A group of 27 patients with IgA nephropathy (IgAN) and persistent microhematuria, and another group of 20 healthy subjects without known renal diseases were selected as control groups. RESULTS: Ten (37%) patients with TBMN and 8 (42%) relatives with microhematuria showed HC and/or HU at presentation; relatives without microhematuria, IgAN patients and normal controls showed a significantly lower prevalence of HC and HU. The prevalence of previous nephrolithiasis among TBMN patients (25%) was significantly higher than in IgAN patients (3%; P < 0.05). Family history of nephrolithiasis was recorded in 14 (51%) of the 27 TBMN families, in contrast with 2 of 27 (7%) with IgAN and 1 of 20 (5%) in normal controls (P < 0.05). The prevalence of nephrolithiasis, gross hematuria bouts and loin pain episodes among TBMN patients and microhematuric relatives showing HC and/or HU at presentation (44%, 44% and 27%, respectively) were significantly higher than those of TBMN patients and microhematuric relatives with normal calcium and uric acid urinary excretions (10%, 7% and 3%, respectively; P < 0.05). At the end of follow-up (8.8+/-4.1 years in TBMN patients and 9.1+/-4.2 years in relatives with microhematuria), all the cases maintained normal renal function. CONCLUSIONS: We found a high prevalence of HC, HU, and nephrolithiasis among TBMN patients and relatives with microhematuria. Our study also shows a significant relationship between the presence of HC and/or HU and the prevalence of nephrolithiasis, gross hematuria bouts and loin pain episodes.

Adolescent↗
PubMed1999

Influence of environmental temperature on incidence of indinavir-related nephrolithiasis.

We analyzed the influence of temperature, humidity, and atmospheric pressure on the 1-year incidence of nephrolithiasis among human immunodeficiency virus type 1-infected patients treated with indinavir. One hundred three patients (13.6%) developed 326 episodes of nephrolithiasis. Eighty-two patients (79.6%) had more than one episode (range, two to seven episodes). The overall incidence ranged from 0 to 10.2 episodes per 100 patients exposed per month. There was a significant correlation between temperature and the overall incidence of nephrolithiasis and the incidence of recurrences but not with the incidence of first episodes. Nephrolithiasis was not related to humidity or atmospheric pressure. Our data support the standard recommendation of drinking at least 1.5 L of water daily to prevent nephrolithiasis in most patients treated with indinavir irrespective of meteorologic factors. However, the risk of nephrolithiasis is higher for a certain subgroup of patients when the environment is hot irrespective of adequate water intake.

Atmospheric Pressure↗
PubMed1998

[The influence of dietary lipids on nephrolithiasis in rats].

PURPOSE: The influence of dietary lipids on nephrolithogenesis is unclear. In the present study, I investigated the role of dietary lipids concerning both the etiology and the prevention of nephrolithiasis using 9-week-old male Wistar rats. METHODS: Study 1: The rats were divided into five groups and reared on standard, low protein, high protein and high cholesterol diets for 23 weeks. Study 2: The effects of cholesterol on nephrolithiasis was examined. The animals were given a 30 intraperitoneal injection of 2 ml of 8.5% calcium gluconate. Study 3: A nephrolithiasis model was prepared by intraperitoneal administration of 40 mg/kg of glyoxylic acid and 0.25 microgram of vitamin D3 daily for 2 weeks. The inhibitory effects of eicosapentaenoic acid (EPA) on nephrolithiasis were studied. RESULTS: Study 1: In the groups given the high protein and high cholesterol diets, an increase in renal osteopontin-mRNA, one of the major matrix ingredients of stones containing calcium, was observed. Study 2: Microlith was more frequently observed in the high cholesterol group than in the standard diet group. Study 3: In the EPA group, lithiasis was less extensively than in the groups administered distilled water or olive oil, and this was assumed to be caused by factors other than inorganic substances such as calcium and oxalic acid in the urine. When the renal tissue specimens in Studies 2 and 3 were examined, initial calcium deposition was found to start from the basement membrane of renal tubular cells and gradually spread throughout the cells. CONCLUSION: These results suggested that cholesterol is a risk factor in nephrolithiasis, and EPA is effective in its prevention. The elimination of hyperlipidemia should be included in dietary instructions for nephrolithiasis patients.

Animals↗
PubMed2001

[The change of human Na+/dicarboxylate co-transporter 1 expression in the kidney and its relationship with pathogenesis of nephrolithiasis].

OBJECTIVE: To study the change of Na+/dicarboxylate co-transporter 1 expression in the kidney and its relationship with nephrolithiasis. METHODS: 50 volunteers and 85 patients with nephrolithiasis were divided into 3 groups: control, nephrolithiasis with normal urine citrate, and nephrolithiasis with hypocitraturia. The expression of hNaDC1 mRNA in kidney was determined by RT-PCR or Northern blotting, the change of hNaDC1 protein abundance were measured by immunohistochemical staining with anti-hNaDC1 antibody among part of these patients and volunteers. The plasma and urinary biochemical parameters, such as citrate, oxalate, uric acid and calcium etc., were analyzed by routine chemical methods. RESULTS: The recurrence rate of nephrolithiasis in the group of patients with hypocitraturia was 36.1%, significantly higher than the recurrence rate of 16.3% in the group of patients with normal urine citrate (P < 0.01). hNaDC1 was expressed in the normal kidney, localized in the striated border of renal proximal tubule. However, it was expressed highly in the kidneys of patients with hypocitraturia. The ratio hNaDC1 mRNA/18sRNA in the patients with hypocitraturia was 0.65 +/- 0.21, significantly higher than that in the controls (0.36 +/- 0.11, P < 0.01). The ratio hNaDC1 mRNA/18sRNA in the patients with normal urine citrate was not significantly different from that in the controls (P > 0.05). The urine pH and urine sodium were significantly lower in the patients with hypocitraturia than in the other two groups. The levels of urine calcium and urine oxalate were significantly higher in the patients with hypocitraturia than in the controls, and were not different from those in the patients with normal urine citrate. CONCLUSION: The upregulation of hNaDC1 mRNA and protein abundance in the kidney may be an important cause of hypocitraturia, which might be related with the occurrence and recurrence of nephrolithiasis.

Adult↗
PubMed2004

Relationship among risk factors for nephrolithiasis, cardiovascular disease, and ethnicity: focus on a law enforcement cohort.

This cross-sectional study determined the prevalence of nephrolithiasis and common cardiovascular disease (CVD) risk factors in a law enforcement officer (LEO) cohort and evaluated the relationship of nephrolithiasis with several CVD risk factors, including the possible effect of ethnicity. Self reported nephrolithiasis and CVD risk factors among currently employed male LEOs from nine states (n = 2,818) were compared to other men in the same states (n = 9,650). Of the LEOs, 6.2% (n = 174) self reported at least one kidney stone (range = 1 to 12, mean 2.3 6 2.1 stones). Twenty five percent of Native American LEOs (n = 7 of 28) self reported a history of stones. In LEOs with a history of nephrolithiasis, overweight defined as body mass index . 25 kg/m2 (odds ratio [OR] = 1.80, 95% confidence interval [CI] = 1.04, 3.11), hypercholesterolemia (OR = 1.53, 95% CI = 1.09, 2.15), and hypertension (OR = 1.46, 95% CI = 1.02, 2.11) were associated with the disease. These results suggest officers with common CVD risk factors are also at an increased risk for nephrolithiasis. Native American LEOs have a disproportionately higher prevalence of nephrolithiasis than do other ethnic groups.

Adult↗
PubMed2004

ESRD caused by nephrolithiasis: prevalence, mechanisms, and prevention.

BACKGROUND: The contribution of nephrolithiasis-related end-stage renal disease (ESRD) to patients requiring renal replacement therapy has never been specifically evaluated. METHODS: Of the entire cohort of 1,391 consecutive patients who started maintenance dialysis therapy at our nephrology department between January 1989 and December 2000, a total of 45 patients (21 men) had renal stone disease as the cause of ESRD and constitute the study material. Type and cause of renal stone disease was determined in the 45 patients, as well as the change in prevalence of nephrolithiasis-related ESRD with time during this 12-year period. RESULTS: The overall proportion of nephrolithiasis-related ESRD was 3.2%. Infection (struvite) stones accounted for 42.2%; calcium stones, 26.7%; uric acid nephrolithiasis, 17.8%; and hereditary diseases (including primary hyperoxaluria type 1 and cystinuria), 13.3% of cases. Women were predominant among patients with infection and calcium stones, whereas men were predominant among patients with uric acid or hereditary stone disease. The proportion of patients with nephrolithiasis-related ESRD decreased from 4.7% in the triennial period 1989 to 1991 to 2.2% in the most recent period, 1998 to 2000 ( P = 0.07). This tendency to a decreasing prevalence mainly was caused by a rarefaction of infection and calcium stones with time, whereas frequencies of uric acid and hereditary stone disease remained essentially unchanged. CONCLUSION: Severe forms of nephrolithiasis remain an underestimated cause of potentially avoidable ESRD and need for renal replacement therapy. These findings highlight the crucial importance of accurate stone analysis and metabolic evaluation to provide early diagnosis and proper therapy for conditions that may lead to ESRD through recurrent stone formation and/or parenchymal crystal infiltration.

Adult↗
PubMed1994

Hypertension, calcium metabolism, and nephrolithiasis.

Alterations in calcium metabolism have been detected in both human and rat primary hypertension at various levels of the biological organization; in particular, an abnormal renal electrolyte handling, leading to chronically enhanced urinary calcium excretion, has been demonstrated. In keeping with this finding, a significant statistical association between high blood pressure and prevalence of nephrolithiasis has been found in three independent population-based surveys. The first was carried out in the early 1960s in Goteborg, Sweden, on 895 50-year-old men, and showed a higher frequency of a positive history of nephrolithiasis with increasing blood pressure. The second and third studies were performed in Italy, one in the town of Gubbio, with screening of a representative sample (n = 3,431; 84%) of the adult population and the other in Pozzuoli, Naples, at the Olivetti factory, where 688 male workers (88% of the total male workforce) were examined. In both studies, the retrospectively evaluated relative risk of nephrolithiasis in hypertensive persons, after controlling for age, was significantly higher than in normotensive persons, with hypertension contributing by 18% to the overall rate of nephrolithiasis. Hypercalciuria is the most common risk factor for nephrolithiasis and, therefore, also a likely pathogenetic link between nephrolithiasis and hypertension. Dietary factors play an important contributory role in the prevention and treatment of these two widespread conditions, and a dietary approach, with particular regard to electrolyte intake, is a powerful tool for the prevention of hypertension-related kidney stone disease.

Calcium↗
PubMed1996

Use of extracorporeal shock wave lithotripsy for treatment of nephrolithiasis and ureterolithiasis in five dogs.

The safety and efficacy of extracorporeal shock wave lithotripsy in 5 dogs with nephrolithiasis and ureterolithiasis was assessed. Three dogs had bilateral nephrolithiasis, 1 had bilateral nephrolithiasis and unilateral ureterolithiasis, and 1 had unilateral nephrolithiasis and unilateral ureterolithiasis. A first-generation lithotriptor was used for all treatments. None of the dogs developed clinically important complications during or after treatment, except for 1 dog treated for bilateral nephrolithiasis that developed transient ureterolithiasis. Renal function was unchanged in all dogs following treatment. Clinical signs resolved in all dogs. Extracorporeal shock wave lithotripsy appears to be a safe and effective means of treating nephrolithiasis and ureterolithiasis in dogs and appears to cause less renal parenchymal damage and renal function loss than does nephrotomy.

Animals↗
PubMed1997

The role of the papilla in idiopathic calcium oxalate nephrolithiasis.

The complex and multifactorial phenomenon of urinary stone disease remains unclear. Anatomical and physiochemical theories do not adequately deal with certain aspects of idiopathic calcium oxalate nephrolithiasis in particular or of nephrolithiasis. One of the reasons for this could be that nephrolithiasis is not only a primary disorder but may also be a symptom of other disorders or various pathologic changes in the metabolism of lithogenic substances. Both affirmative and contradictory reports have been published since Randall's first description of papillary calcifications and their possible active role in the genesis of calcium oxalate nephrolithiasis. Our intention is to discuss focal calcified lesions as an etiologic factor of renal stone disease as well as the change from historical to modern concepts regarding the development of medullary calcifications and their relationship to idiopathic calcium oxalate nephrolithiasis.

Animals↗
PubMed2000

Risk of calcium oxalate nephrolithiasis after calcium or combined calcium and calcitriol supplementation in postmenopausal women.

Although calcium supplementation can cause hypercalciuria, the risk of nephrolithiasis has been shown to decrease rather than increase among subjects who had a higher calcium intake. Hypercalciuria is also a well-established side effect of calcitriol administration. However, the risk of nephrolithiasis is not well defined. The present study was undertaken to prospectively determine the effect of calcium with or without calcitriol on physicochemical risk factors associated with calcium oxalate nephrolithiasis in Thai postmenopausal women with osteoporosis. Subjects consisted of 53 Thai women more than 10 years postmenopausal who were randomly allocated to receive 750 mg of calcium carbonate supplement alone (n = 28) or 750 mg of calcium carbonate plus 0.5 microg calcitriol (n = 25) daily. Mean +/- SEM for age was 65.3+/-1.1 years, body weight 53.5+/-1.3 kg. Urine samples for biochemical assays were collected at baseline and 3 months after treatment. Supersaturation for calcium oxalate stone formation was assessed from the 24 h urine constituents by the Tiselius's index, AP(CaOx). Three months of calcium supplement alone resulted in a modest, but not significant, increase in urinary calcium (baseline, 2.90+/-0.43 mmol/day; after treatment 3.58+/-0.54 mmol/day) with no change in urinary oxalate, citrate or magnesium. In contrast, calcium together with calcitriol caused a significant increase in urinary calcium (baseline, 2.87+/-0.41 mmol/day; after treatment, 4.08+/-0.57 mmol/day; p < 0.05). No significant change in other urine constituents after treatment with calcium and calcitriol was detected. Therefore, AP(CaOx) did not significantly increase either after calcium alone (baseline, 1.17+/-0.39; after treatment, 1.36+/-0.28) or after calcium plus calcitriol (baseline, 1.09+/-0.17; after treatment, 1.09+/-0.19). However, after treatments, 12 subjects (23%)--6 receiving calcium supplement alone and 6 receiving calcium plus calcitriol supplement--had high AP(CaOx) values (greater than the upper limit of 95% Cl for AP(CaOx) derived from non-stone-forming Thai women). The post-treatment/baseline ratio was 3.21+/-0.74 for urinary calcium, 1.01+/-0.19 for urinary oxalate, and 2.23+/-0.42 (median 1.15) for AP(CaOx). The post-treatment/baseline ratio of calcium, but not for urinary oxalate, had a significant correlation with the post-treatment/baseline ratio of AP(CaOx). Our findings suggest that the alteration in the risk of calcium oxalate nephrolithiasis based on urinary composition is related to the alteration in urinary calcium. The risk of calcium oxalate nephrolithiasis does not increase significantly after calcium or combined calcium and calcitriol supplement in the majority of postmenopausal women with osteoporosis.

Aged↗
PubMed1981

Is selective therapy of recurrent nephrolithiasis possible?

We evaluated, in 128 patients with recurrent nephrolithiasis, the efficacy of special treatment programs for some of the common causes of nephrolithiasis, chosen on the basis of their ability to correct underlying physicochemical and physiologic derangements. Therapy included sodium cellulose phosphate for 18 patients with absorptive hypercalciuria, thiazide diuretics for 27 patients with absorptive hypercalciuria and for 10 with renal hypercalciuria, orthophosphate for eight patients with hypophosphatemic absorptive hypercalciuria, allopurinol for 21 patients with hyperuricosuric calcium oxalate nephrolithiasis, thiazide and allopurinol for 26 patients with absorptive hypercalciuria with hyperuricosuria, and high fluid intake and/or low calcium diet for 22 patients with normocalciuric nephrolithiasis. Patients in all seven groups had a significant reduction in stone formation during 1.70 to 3.37 years of treatment, as compared with the pretreatment period of three years. Remission was found in 70 to 91 percent of patients and reduced stone formation rate was encountered in 88 to 100 percent. Each treatment program produced a significant decline in stone formation rate from 1.90 to 2.28 stones per year to 0.09 to 0.55 stones per year. The actual number of stones formed during treatment was significantly lower than the number predicted from the pretreatment frequency of stone formation (less than 26 percent). The results provide evidence supporting a selective approach to therapy of nephrolithiasis.

Allopurinol↗
PubMed2005

[Nephrolithiasis-induced ESRD: frequency, causes and prevention].

Nephrolithiasis still remains a too frequent - and under-appreciated - cause of end-stage renal disease (ESRD), and this is all the most unfortunate since such an untoward course is now preventable in most cases. Among 1391 patients who started maintenance dialysis at Necker hospital between 1989 and 2000, nephrolithiasis was identified as the cause of ESRD in 45 of them, an overall prevalence of 3.2%. Infection stones accounted for 42.2% of cases, calcium stones for 26.7%, uric acid stones for 17.8% and hereditary diseases for 13.3%. The proportion of nephrolithiasis-associated ESRD declined from 4.7% to 2.2% from the 1989-1991 to the 1998-2000 period, as a result of the decreased incidence of ESRD in patients with infection and calcium nephrolithiasis. Based on our observations and on published reports, it emerges that most cases of nephrolithiasis-associated ESRD were due to sub-optimal management (especially in the case of infection or cystine stones) or to late (or erroneous) etiologic diagnosis, precluding early institution of appropriate therapeutic measures. In particular, several patients with primary hyperoxaluria or 2,8-dihydroxyadeninuria were diagnosed while already on dialysis or after unsuccessful kidney transplantation, due to wrong initial diagnosis. In conclusion, thanks to recent advances in diagnosis and management of stone formers, ESRD should now be prevented in the great majority of patients, at the condition of early etiologic diagnosis based on accurate morphoconstitutional analysis of calculi and metabolic evaluation, and early implementation of appropriate preventive medical treatment.

Diagnostic Errors↗
PubMed2002

Global analysis of differentially expressed genes during progression of calcium oxalate nephrolithiasis.

The process of nephrolithiasis development is poorly understood at the molecular level. Here, we constructed a cDNA microarray from a rat kidney normalized cDNA library, and investigated the pattern of gene expression in rat kidneys from a calcium oxalate (CaOx) nephrolithiasis model. One hundred and seventy-three genes were found to be at least 2-fold regulated at one or more time points during progression of nephrolithiasis. RT-PCR and immunohistochemical analyses confirmed differential expression at both transcriptional and translational levels of genes identified by cDNA microarray screening. The differentially regulated genes were grouped into six clusters based on their expression profiles; the magnitude and the temporal patterns of gene expression identified known and novel molecular components involved in inflammation and matrix expansion in the CaOx nephrolithiasis kidney. This microarray study is the first report on gene expression programs underlying the process of nephrolithiasis.

Animals↗
PubMed1989

Nephrolithiasis in renal tubular acidosis.

Renal tubular acidosis is a term applied to several conditions in which metabolic acidosis is caused by specific defects in renal tubular hydrogen ion secretion. Three types of renal tubular acidosis generally are recognized based on the nature of the tubular defect. Nephrolithiasis occurs only in type I renal tubular acidosis, a condition marked by an abnormality in the generation and maintenance of a hydrogen ion gradient by the distal tubule. A forme fruste of type I renal tubular acidosis has been described in which the characteristic defect in distal hydrogen ion secretion occurs in the absence of metabolic acidosis (incomplete renal tubular acidosis). Type I renal tubular acidosis is a heterogeneous disorder that may be hereditary, idiopathic or secondary to a variety of conditions. Secondary type I renal tubular acidosis in sporadic cases is associated most commonly with autoimmune diseases, such as Sjögren's syndrome and systemic lupus erythematosus, and it occurs more frequently in women than men. Nephrolithiasis, which may occur in any of the subsets of type I renal tubular acidosis, accounts for most of the morbidity in adults and adolescents. Major risk factors for nephrolithiasis include alkaline urine, hypercalciuria and hypocitraturia. In addition, we found hyperuricosuria in 21 per cent of the patients with type I renal tubular acidosis with nephrolithiasis. The most frequently occurring risk factor, hypocitraturia, is due to decreased filtered load and/or to increased tubular reabsorption of filtered citrate. While increased tubular reabsorption may be due to systemic acidosis, hypocitraturia occurs in incomplete renal tubular acidosis. Furthermore, alkali therapy (either bicarbonate or citrate salts) increases citrate excretion in complete and incomplete type I renal tubular acidosis. These data suggest that hypocitraturia in type I renal tubular acidosis may be due to a defect in proximal tubule function. Hypercalciuria appears to have 2 causes. It may be due to metabolic acidosis, usually in children with a hereditary defect in urine acidification. In other cases familial idiopathic hypercalciuria causes nephrocalcinosis and nephrolithiasis resulting in distal tubular damage and type I renal tubular acidosis. In these latter cases hypercalciuria is present in complete and incomplete type I renal tubular acidosis. Potassium citrate appears to reduce calcium excretion in both types of hypercalciuric type I renal tubular acidosis.(ABSTRACT TRUNCATED AT 400 WORDS)

Acidosis, Renal Tubular↗
PubMed1991

X-linked recessive nephrolithiasis with renal failure.

BACKGROUND AND METHODS: Nephrolithiasis may occur as a consequence of a number of hereditary disorders. We describe a large kindred from northern New York with hereditary nephrolithiasis accompanied by urinary concentrating defects, nephrocalcinosis, renal insufficiency, and renal wasting of potassium, phosphate, calcium, and uric acid. The pattern of inheritance was established by examining the patients and their records and interviewing family members. Selected members of the family were evaluated in detail, with measurements of erythrocyte cation fluxes and carbonic anhydrase (carbonate dehydratase) activity. RESULTS: The kindred consisted of 162 family members from six generations. All nine affected persons were male and appeared to have inherited the disease from their mothers. No affected man transmitted the gene to a son, but the daughters of affected men were carriers. The patients presented in childhood with calcium nephrolithiasis and proteinuria, with progression to nephrocalcinosis, urinary concentrating defects, and renal insufficiency. Renal biopsies revealed tubular atrophy, interstitial fibrosis, and glomerulosclerosis; the characteristic features of other forms of hereditary nephritis were absent. Abnormalities in the renal excretion of calcium, phosphate, potassium, and uric acid were found only in the adult members of the kindred, although renal biopsies were abnormal even in younger members. In one patient who has had a renal transplant for seven years, the disease has not recurred. CONCLUSIONS: This kindred manifested an X-linked recessive nephrolithiasis with renal failure, a new form of hereditary renal disease. Most of the identifiable physiologic abnormalities occurred after the development of nephrolithiasis and renal insufficiency and may not be of pathogenetic importance.

Adult↗
PubMed2001

Past history of nephrolithiasis and incidence of hypertension in men: a reappraisal based on the results of the Olivetti Prospective Heart Study.

BACKGROUND: We have previously reported that in the Olivetti Prospective Heart Study cohort the incidence of nephrolithiasis was higher in hypertensive participants than in normotensive ones. As the time sequence and the mechanisms underlying the association between nephrolithiasis and hypertension remain controversial, we further tested the hypothesis that in a cohort of normotensive males a history of nephrolithiasis predicts the development of future hypertension. METHODS: The analysis was conducted in 381 male workers at Olivetti who were normotensive at the baseline examination and who were re-examined 8 years later. RESULTS: A past history of nephrolithiasis is associated with an increased risk of hypertension of 1.96 (95% CI=1.25-3.07) relative to subjects with a negative history, after adjusting for age. CONCLUSION: In this 8-year follow-up study, a history of nephrolithiasis resulted in an increased risk of developing hypertension in the future. As the reverse was also true, as previously reported, a clear-cut time sequence, as well as the mechanisms linking these two conditions, remain to be identified.

Adult↗