scholarly journals The 1 alpha-hydroxylase locus is not linked to calcium stone formation or calciuric phenotypes in French-Canadian families.

1998 ◽  
Vol 9 (3) ◽  
pp. 425-432 ◽  
Author(s):  
P Scott ◽  
D Ouimet ◽  
Y Proulx ◽  
M L Trouvé ◽  
G Guay ◽  
...  
Keyword(s):  
Vitamin D ◽  
Quantitative Trait ◽  
Stone Formation ◽  
Calcium Stone ◽  
Stone Formers ◽  
Vitamin D Levels ◽  
Calcium Urolithiasis ◽  
Recurrent Stone ◽  
Recurrent Stone Formers ◽  
Sib Pairs

Calcium urolithiasis is often associated with increased intestinal absorption and urine excretion of calcium, and has been suggested to result from increased vitamin D production. The role of the enzyme 1 alpha-hydroxylase, the rate-limiting step in active vitamin D production, was evaluated in 36 families, including 28 sibships with at least a pair of affected sibs, using qualitative and quantitative trait linkage analyses. Sibs with a verified calcium urolithiasis passage (n = 117) had higher 24-h calciuria (P = 0.03), oxaluria (P = 0.02), fasting and postcalcium loading urine calcium/creatinine (Ca/cr) ratios (P = 0.008 and P = 0.002, respectively), and serum 1,25(OH)2 vitamin D levels (P = 0.02) compared with nonstone-forming sibs (n = 120). Markers from a 9-centiMorgan interval encompassing the VDD1 locus on chromosome 12q13-14 (putative 1 alpha-hydroxylase) were analyzed in 28 sibships (146 sib pairs) of single and recurrent stone formers and in 14 sibships (65 sib pairs) with recurrent-only (> or = 3 episodes) stone-forming sibs. Two-point and multipoint analyses did not reveal excess in alleles shared among affected sibs at the VDD1 locus. Linkage of stone formation to the VDD1 locus could be excluded, respectively, with a lambda d of 2.0 (single and recurrent stone formers) and 3.25 (recurrent stone formers). Quantitative trait analyses revealed no evidence for linkage to 24-h calciuria and oxaluria, serum 1,25(OH)2 vitamin D levels, and Ca/cr ratios. This study shows absence of linkage of the putative 1 alpha-hydroxylase locus to calcium stone formation or to quantitative traits associated with idiopathic hypercalciuria. In addition, there is coaggregation of calciuric and oxaluric phenotypes with stone formation.

A possible etiological role for ascorbate in calculi formation.

1986 ◽  
Vol 32 (2) ◽  
pp. 333-336 ◽  
Author(s):  
A H Chalmers ◽  
D M Cowley ◽  
J M Brown
Keyword(s):  
Intravenous Administration ◽  
Urinary Oxalate ◽  
Calcium Stone ◽  
Enhanced Production ◽  
Etiological Role ◽  
Stone Formers ◽  
Recurrent Stone ◽  
Recurrent Stone Formers

Abstract Studies of recurrent stone formers indicated that they have significantly increased urinary oxalate and decreased ascorbate excretions. Results of oral and intravenous administration of ascorbate indicate an enhanced production of oxalate from ascorbate in recurrent calcium stone formers as compared with normal persons and that most of this oxalate is generated in the gut.

scholarly journals Bone mineral density status in urolithiasis patients with vitamin D inadequacy followed at a tertiary stone centre

2014 ◽  
Vol 8 (9-10) ◽  
pp. 323 ◽  
Author(s):  
Mohamed Aly Elkoushy ◽  
Mazen Jundi ◽  
Terence T.N. Lee ◽  
Sero Andonian
Keyword(s):  
Bone Mineral Density ◽  
Vitamin D ◽  
High Risk ◽  
Osteoporotic Fractures ◽  
Mineral Density ◽  
Stone Formers ◽  
Major Osteoporotic Fractures ◽  
Recurrent Stone ◽  
Dxa Scans ◽  
Recurrent Stone Formers

Introduction: We assessed abnormalities in bone mineral density (BMD) and the risk of hip and major osteoporotic fractures in urolithiasis patients with vitamin D inadequacy (VDI) followed at a tertiary stone centre.Methods: Stone-free patients with VDI were invited to undergo dual-energy x-ray absorptiometry (DXA) scans to assess for BMD abnormalities at the femoral neck and lumbar spine. The World Health Organization’s validated Fracture Risk Assessment Tool (FRAX) was used to calculate the risk of hip and major osteoporotic fractures within 10 years. Patients with primary hyperparathyroidism or hypercalcemia were excluded.Results: In total, 50 consecutive patients were included between June 2011 and August 2012, including 26 (52%) males. The median age was 51 years and the median 25-hydroxyl vitamin D (25[OH]D) was 18.8 ng/mL. Thirty patients (60%) had abnormal T-scores on DXA studies. This decreased to 22 (44%) when age-matched Z-scores were used; 36% had osteopenia and 8% had osteoporosis. Femoral neck and lumbar spines were affected in 24% and 32% of patients, respectively. Recurrent stone-formers had significantly lower BMD when compared with first-time stone-formers. Median serum 25(OH)D was comparable between patients with normal and abnormal DXA scans (18.6 vs. 18.8 ng/mL; p = 0.91). Five patients (10%) were at high risk (≥3%) of hip fractures within 10 years.Conclusion: A high prevalence of abnormal DXA scans was found in urolithiasis patients with VDI, including 5 patients (10%) at high risk of hip fractures. Future studies need to assess the economic impact of obtaining DXA scans on urolithiasis patients with VDI, especially in recurrent stone-formers.

Approach to the patient with kidney stones

2015 ◽  
Author(s):  
Bhavna Chopra ◽  
Stanley Goldfarb
Keyword(s):  
Stone Formation ◽  
Serum Biochemistry ◽  
X Ray Diffraction ◽  
Stone Formers ◽  
Recurrent Stone ◽  
Recurrent Stone Formers ◽  
Urine And Serum ◽  
Kidney Stone Formation ◽  
Stone Type ◽  
Shed Light

A detailed history can identify some risk factors and narrows down the potential causes of kidney stone formation. Radiological investigations confirm the diagnosis and give information on likely stone type. Urine and serum biochemistry is invaluable, but a more comprehensive investigation is reserved for recurrent stone formers. In that case at least two 24h collections, remote from any acute event are recommended, measuring volume, pH, calcium, oxalate, citrate, uric acid and phosphate. Urinary crystals can shed light on some stone types.For single or recurrent stones, analysis of stones themselves is invaluable. Analysis may include X-ray diffraction, infrared spectroscopy and a number of other techniques. .Dietary evaluation is valuable in recurrent stone formers.

Calcium Oxalate Crystalluria and Inhibitors of Crystallization in Recurrent Renal Stone-Formers

1972 ◽  
Vol 43 (4) ◽  
pp. 499-506 ◽  
Author(s):  
W. G. Robertson ◽  
M. Peacock
Keyword(s):  
Calcium Oxalate ◽  
Stone Formation ◽  
Sodium Oxalate ◽  
Calcium Oxalate Crystals ◽  
Oxalate Crystals ◽  
Stone Formers ◽  
Large Particles ◽  
Recurrent Stone ◽  
Recurrent Stone Formers

1. The particle size distributions of calcium oxalate crystals were measured at 37°C in fresh urine from recurrent, idiopathic stone-formers and their controls under the same conditions of dietary and fluid intake. The crystals excreted by the controls were small and belonged to a unimodal distribution, whereas those excreted by the stone-formers belonged to a distribution which contained a second peak of much larger particles. The proportion of large crystals in the urines of the stone-formers was significantly higher than in the urines of the controls. 2. The difference in the proportion of large particles passed by the two groups was accentuated by adding a small quantity of sodium oxalate to their diets. Whereas the controls continued to excrete only small crystals of calcium oxalate, the stone-formers passed most of their crystals as large particles. 3. Further investigations showed that the urines of the controls contained a potent inhibitor of the growth and aggregation of calcium oxalate crystals in vitro and that the inhibitor was deficient in the urines of the recurrent stone-formers. 4. It is suggested that the inhibitor in normal urine may allow calcium oxalate to be passed harmlessly in the form of small particles, whereas the lower inhibitory activity in the urines of the recurrent stone-formers is insufficient to prevent the growth of the primary crystals into the large aggregates seen in these urines. By blocking the formation of abnormally large crystals and aggregates the inhibitor may therefore play an important role in preventing crystalluria leading to stone formation.

Chemical factors important to calcium nephrolithiasis: evidence for impaired hydroxycarboxylic acid absorption causing hyperoxaluria.

1987 ◽  
Vol 33 (2) ◽  
pp. 243-247 ◽  
Author(s):  
D M Cowley ◽  
B C McWhinney ◽  
J M Brown ◽  
A H Chalmers
Keyword(s):  
Stone Formation ◽  
Urine Volume ◽  
Normal Subjects ◽  
Concurrent Administration ◽  
Calcium Stone ◽  
Hydroxycarboxylic Acids ◽  
Stone Formers ◽  
Daily Excretion ◽  
Chemical Factors ◽  
Urinary Oxalate Excretion

Abstract An investigation of variables important to calcium stone formation in urine indicated significantly increased daily excretion of calcium and oxalate and decreased excretion of ascorbate and citrate by recurrent calcium stone formers. In addition, urine volume, sodium, mucopolysaccharide, and protein were also significantly increased. We compared the uptake of citrate and ascorbate from the gut into the blood in normal controls and stone formers. These studies indicated significantly depressed absorption of both these hydroxycarboxylic acids in recurrent calcium stone formers. We also found that concurrent administration of citrate inhibited ascorbate absorption and increased urinary oxalate excretion after an ascorbate load in normal subjects and stone formers. These findings suggest a mechanism that explains hyperoxaluria in stone patients on the basis of a malabsorption of citrate, ascorbate, and possibly other hydroxycarboxylic acids.

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