scholarly journals Association of CASR, CALCR, and ORAI1 Genes Polymorphisms With the Calcium Urolithiasis Development in Russian Population

2021 ◽  
Vol 12 ◽  
Author(s):  
Maria M. Litvinova ◽  
Kamil Khafizov ◽  
Vitaly I. Korchagin ◽  
Anna S. Speranskaya ◽  
Aliy Yu. Asanov ◽  
...  
Keyword(s):  
Kidney Stone ◽  
Calcium Metabolism ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Stone Disease ◽  
Russian Population ◽  
Control Group ◽  
Multifactor Dimensionality Reduction Analysis ◽  
Kidney Stone Disease ◽  
Calcium Urolithiasis

Kidney stone disease is an urgent medical and social problem. Genetic factors play an important role in the disease development. This study aims to establish an association between polymorphisms in genes coding for proteins involved in calcium metabolism and the development of calcium urolithiasis in Russian population. In this case-control study, we investigated 50 patients with calcium urolithiasis (experimental group) and 50 persons lacking signs of kidney stone disease (control group). For molecular genetic analysis we used a previously developed gene panel consisting of 33 polymorphisms in 15 genes involved in calcium metabolism: VDR, CASR, CALCR, OPN, MGP, PLAU, AQP1, DGKH, SLC34A1, CLDN14, TRPV6, KLOTHO, ORAI1, ALPL, and RGS14. High-throughput target sequencing was utilized to study the loci of interest. Odds ratios and 95% confidence intervals were used to estimate the association between each SNP and risk of urolithiasis development. Multifactor dimensionality reduction analysis was also carried out to analyze the gene-gene interaction. We found statistically significant (unadjusted p-value < 0.05) associations between calcium urolithiasis and the polymorphisms in the following genes: CASR rs1042636 (OR = 3.18 for allele A), CALCR rs1801197 (OR = 6.84 for allele A), and ORAI1 rs6486795 (OR = 2.25 for allele C). The maximum OR was shown for AA genotypes in loci rs1042636 (CASR) and rs1801197 (CALCR) (OR = 4.71, OR = 11.8, respectively). After adjustment by Benjamini-Hochberg FDR we found only CALCR (rs1801197) was significantly associated with the risk of calcium urolithiasis development. There was no relationship between recurrent course of the disease and family history of urolithiasis in investigated patients. Thus we found a statistically significant association of polymorphism rs1801197 (gene CALCR) with calcium urolithiasis in Russian population.

scholarly journals SINGLE-NUCLEOTIDE POLYMORPHISMS OF CALCIUM-SENSING RECEPTOR ENCODING GENE ASSOCIATED WITH CALCIUM KIDNEY STONE DISEASE IN BABYLON PROVINCE

2018 ◽  
Vol 11 (2) ◽  
pp. 417 ◽  
Author(s):  
Zahraa Isam ◽  
Rabab Omran ◽  
Ammad Hassan Mahmood
Keyword(s):  
Amino Acid ◽  
Single Nucleotide Polymorphisms ◽  
Kidney Stone ◽  
Stone Disease ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Calcium Sensing Receptor ◽  
Single Nucleotide ◽  
Kidney Stone Disease ◽  
Calcium Sensing

  Objective: The calcium-sensing receptor (CASR) is a G-protein-coupled receptor that is mainly expressed in the parathyroid and the kidneys where it regulates parathyroid hormone secretion and renal tubular calcium reabsorption. Inactivating and activating CASR gene due to mutations severally caused hypercalcemia or hypocalcemia disorders. The aim of the study was to investigate the risk factor of CASR rs1801725 (Ala986Ser) patients with renal disease.Method: The blood samples were collected from 100 patients and divided into two groups, each one containing 50 samples; chronic kidney disease and end-stage renal disease, who admitted Merjan Teaching Hospital in Babylon Province, Iraq, from February to July 2016. In addition, healthy persons as a control group (50 samples). Genotyping of CASR single-nucleotide polymorphisms (SNP) was performed using a polymerase chain reaction technique, followed by single-strand conformation polymorphism. Accordingly, these DNA polymorphisms were confirmed using DNA sequencing.Results: The conformational haplotypes of CASR, exon7 NCBI Primer3plus reference were obtained in three patterns, including two, three, and four bands, due to the presence SNPs within the studied region. These SNPs leads to change three amino acid residues of CASR, including amino acid substitutions were Ala 128→ Ser 128, Leu 155→Tye 155, and Leu 156→ Ser 156 that may affect or modified the tertiary structure of the receptor, subsequently the function like the affinity to calcium ion may be effected.Conclusion: These results suggest that the variants of CASR SNP, namely, rs1801725 might be involved in susceptibility to kidney stone disease.

scholarly journals Benign Prostatic Hyperplasia and Kidney Stone Disease Thermobalancing Therapy with Dr Allen’s Device: Key to Successful Ageing Without Medications, Surgery, and Risky Exposure to Coronavirus Infection

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Simon Allen ◽  
Ariana Adjani
Keyword(s):  
Benign Prostatic Hyperplasia ◽  
Side Effects ◽  
Kidney Stone ◽  
Stone Disease ◽  
Prostatic Hyperplasia ◽  
Control Group ◽  
Successful Ageing ◽  
Kidney Stone Disease ◽  
At Home

Background: The choice of treatment for benign prostatic hyperplasia (BPH) and kidney stone disease (KSD) impacts the attainment of successful ageing and the level of patient care required in the long-term. Medications and surgeries typically used for these conditions have serious side effects and can interfere with healthy aging. Objectives: This study assesses the impact of Dr Allen’s Therapeutic devices (DATD) and thermobalancing therapy® (TT) on the ageing process of people with BPH and KSD. Methods: This study evaluated the outcomes of a clinical trial investigating the dynamics of symptoms and parameters in 124 male patients with BPH who used DATD as a monotherapy for six months at home and compared the results with a control group including 124 BPH patients who did not receive treatment with DATD. Furthermore, five case studies were randomly selected for assessment from 10-year empirical observations of patients with KSD treated with DATD. Results: DATD with TT reduced prostate volume (PV) from 45 mL to 31 mL (P < 0.001) and reduced urinary symptoms score from 14.2 to 4.9 (P < 0.001). It also improved quality of life (QoL) as measured by the reduction in the International Prostate Symptom score (I-PSS) from 3.9 to 1.3 (P < 0.001), while the control group showed no positive changes. DATD with TT dissolved kidney stones without renal colic in all patients. No side effects were observed. Conclusions: Using DATD and TT to treat BPH and KSD demonstrated high efficacy, safety, and easy disease management at home. In contrast, medications and surgeries for BPH and KSD often lead to sexual dysfunction, depression, hypertension, chronic kidney failure, and other morbidities, requiring an increased care level in the long-term. Thus, DATD and TT generate high treatment efficacy with lower exposure to coronavirus, reduce long-term care needs, and are vital to attaining successful ageing and longevity.

Somatosensory and trophic findings in the referred pain area in patients with kidney stone disease

2013 ◽  
Vol 4 (3) ◽  
pp. 165-170 ◽  
Author(s):  
Katja Venborg Pedersen ◽  
Asbjørn Mohr Drewes ◽  
Ole Graumann ◽  
Susanne Sloth Osther ◽  
Anne Estrup Olesen ◽  
...  
Keyword(s):  
Ct Scan ◽  
Kidney Stone ◽  
Stone Disease ◽  
Referred Pain ◽  
Lateral Side ◽  
Pain Thresholds ◽  
Kidney Stone Disease ◽  
Trophic Changes ◽  
Electrical Stimuli ◽  
Pain Area

AbstractBackground and purposeVisceral and somatic afferents activate the same neuronal structures in the central nervous system. Assessing somatosensory function and trophic changes in the referred pain area may therefore indirectly increase information on mechanisms involved in painful visceral diseases. The aim of this study was to evaluate the sensory and trophic changes in the flank corresponding to the referred pain area in patients with kidney stone disease.MethodsA total of 24 patients with unilateral pain-causing kidney stone disease were studied before and after endoscopic percutaneous kidney stone surgery. Trophic changes and sensitivity on the affected and on the contra-lateral side in the pain free period were investigated. For this purpose we used standardized experimental sensory testing including pressure stimulation and electrical (single and repeated) skin stimulation. Five repeated stimuli were used to investigate temporal summation (increased responses to repeated stimuli). To investigate trophic changes ultrasound as well as CT-scan was used, since the latter is considered more precise for exact tissue layer measurements.ResultsThe pain tolerance thresholds to pressure and pain thresholds to electrical stimulation were not significantly different on the two sides (all P>0.1). After surgery no significant alterations in sensitivity were detected, but there was a tendency to higher pain thresholds to electrical stimuli on the affected side (single stimuli P=0.06; repeated stimuli P=0.09). No trophic changes were observed (all P>0.3), and there were no relations between the pain thresholds or trophic findings and the number of colics (all P >0.08).ConclusionIn patients with unilateral pain-causing kidney stone disease the pain to experimental pressure and electrical stimuli were comparable on the affected and contra-lateral side. For the first time a CT-scan was used to evaluate tissue thickness in the referred pain area. No trophic changes were seen in the muscle or subcutaneous tissue at the affected side, and there were no correlations between the pain thresholds or trophic findings and the patients history of number of colics. After the operation no significant alterations in sensitivity were detected.ImplicationsThis study could not confirm previous studies showing referred hyperalgesia in the skin and trophic changes in the referred pain area to painful visceral disease. Differences in the pain intensity/duration between different diseases and hence the corresponding central neuronal changes may explain the negative findings in the present study.

scholarly journals Nutrition and Kidney Stone Disease

Nutrients ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 1917
Author(s):  
Roswitha Siener
Keyword(s):  
Kidney Stone ◽  
Fluid Intake ◽  
Stone Formation ◽  
Urinary Stone ◽  
Stone Disease ◽  
Urinary Stones ◽  
Dietary Therapy ◽  
Effective Prevention ◽  
Kidney Stone Disease ◽  
Nutrition And Diet

The prevalence of kidney stone disease is increasing worldwide. The recurrence rate of urinary stones is estimated to be up to 50%. Nephrolithiasis is associated with increased risk of chronic and end stage kidney disease. Diet composition is considered to play a crucial role in urinary stone formation. There is strong evidence that an inadequate fluid intake is the major dietary risk factor for urolithiasis. While the benefit of high fluid intake has been confirmed, the effect of different beverages, such as tap water, mineral water, fruit juices, soft drinks, tea and coffee, are debated. Other nutritional factors, including dietary protein, carbohydrates, oxalate, calcium and sodium chloride can also modulate the urinary risk profile and contribute to the risk of kidney stone formation. The assessment of nutritional risk factors is an essential component in the specific dietary therapy of kidney stone patients. An appropriate dietary intervention can contribute to the effective prevention of recurrent stones and reduce the burden of invasive surgical procedures for the treatment of urinary stone disease. This narrative review has intended to provide a comprehensive and updated overview on the role of nutrition and diet in kidney stone disease.

Central adiposity and diabetes are causally associated with kidney stone disease

2021 ◽  
Author(s):  
Catherine Lovegrove ◽  
Akira Wiberg ◽  
Thomas Littlejohns ◽  
Naomi Allen ◽  
Benjamin Turney ◽  
...  
Keyword(s):  
Kidney Stone ◽  
Stone Disease ◽  
Central Adiposity ◽  
Kidney Stone Disease
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