Effects of <i>endothelial nitric oxide synthase</i> gene on end stage renal disease progression in autosomal dominant polycystic kidney disease

Xue, Cheng; Zhou, Chenchen; Sun, Lijun; He, Liangliang; Xu, Chao; Dai, Bing; Mei, Changlin

doi:10.1111/nep.12310

Cited by 14 publications

(19 citation statements)

References 26 publications

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“…Advances in high-resolution ultrasound, CT and MRI could help monitor disease progression and exclude individuals at risk. Molecular diagnosis plays important roles in neonates of early-onset disease patients (to avoid recurrence in subsequent pregnancy), patients with negative family histories (de novo mutation about 7%), and assessments of potential kidney donors with equivocal or negative scans in clinical practice [16]. Nearly 90% of ADPKD mutations can be identified by a clear molecular diagnosis.…”

Section: Molecular Diagnosismentioning

confidence: 99%

The Clinical Manifestation and Management of Autosomal Dominant Polycystic Kidney Disease in China

Xue

Zhou

et al. 2016

Kidney Dis

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Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic hereditary kidney disease characterized by progressive enlargement of renal cysts. The incidence is 1-2‰ worldwide. Mutations in two genes (PKD1 and PKD2) cause ADPKD. Currently, there is no pharmaceutical treatment available for ADPKD patients in China. Summary: This review focused on advances in clinical manifestation, gene diagnosis, risk factors, and management of ADPKD in China. There is an age-dependent increase in total kidney volume (TKV) and decrease in renal function in Chinese ADPKD patients. ADPKD is more severe in males than in females. Great progress has been made in molecular diagnosis in the last two decades. Nephrologists found many novel PKD mutations in Chinese ADPKD patients early through polymerase chain reaction, and then through liquid chromatography in 2000s, and recently through next-generation sequencing. Major predictive factors for ADPKD progression are age, PKD genotype, sex, estimated glomerular filtration rate (eGFR), and TKV. With respect to the management of ADPKD, inhibitors targeting mTOR and cAMP are the focus of clinical trials. Triptolide has been used to treat ADPKD patients in clinical trials in China. Triptolide significantly protected eGFR of ADPKD patients compared with placebo. Key Messages: ADPKD affects about 1.5 million people in China. An additional PKD gene besides PKD1 and PKD2 was not found in the Chinese. The prevalence of intracranial aneurysm in Chinese ADPKD patients was 12.4%. The predictive factors for eGFR decrease in Chinese ADPKD patients are TKV, proteinuria, history of hypertension, and age. The treatment strategies in clinical trials for ADPKD patients in China are similar to those in the West except for triptolide. Facts from East and West: (1) ADPKD is diagnosed globally by ultrasound detection of kidney enlargement and presence of cysts. Recent analyses of variants of the PKD1 and PKD2 genes by next-generation sequencing in Chinese and Western ADPKD patients might lead to the development of reliable genetic tests. (2) Besides lifestyle changes (low-salt diet, sufficient fluid intake, and no smoking), blood pressure control is the primary nonspecific treatment recommended by Kidney Disease - Improving Global Outcomes (KDIGO) for ADPKD patients. How low the blood pressure target should be and what the means of achieving it are remain open questions depending on the severity of chronic kidney disease and the age of the patients. In a recent Chinese study, diagnostic needle aspiration and laparoscopic unroofing surgery successfully improved infection, pain, and hypertension. Peritoneal dialysis was found to be a feasible treatment for most Chinese ADPKD patients with end-stage renal disease. In most Western centers, patients without contraindication are selected for peritoneal dialysis. Kidney transplantation with concurrent bilateral nephrectomy was successful in relieving hypertension and infection in Chinese ADPKD patients. In Western countries, sequential ...

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Section: Molecular Diagnosismentioning

confidence: 99%

The Clinical Manifestation and Management of Autosomal Dominant Polycystic Kidney Disease in China

Xue

Zhou

et al. 2016

Kidney Dis

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“…investigated several SNP and polymorphisms in a south Indian cohort using a case control methodology which did not reveal such an association or modifier effect. Subsequently Xue et al . have undertaken a systematic review and meta analysis including the previous study.…”

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confidence: 99%

NOS3 as a potential modifier of ADPKD phenotypic variability: Progress towards an answer

Mallett

Sandford

2014

Nephrology

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“…Polymorphisms in eNOS have been demonstrated to be associated with NO levels in the serum [14]. Additionally, several studies showed that eNOS polymorphisms were related to many renal diseases, including diabetic nephropathy (DN) [15-17], polycystic kidney disease [11], and lupus nephritis [18]. However, the relationship between single-nucleotide polymorphisms (SNPs) of eNOS and IgAN remains unclear.…”

Section: Introductionmentioning

confidence: 99%

“…NO, produced by renal tubular epithelial cells and mesangial cells, plays an important role in regulating renal hemodynamic and tubular function [11, 12]. Decreased NO levels may be important in the progression of renal disease [13].…”

Section: Introductionmentioning

confidence: 99%

“…Endothelial cells that produce NO rely on eNOS, a multi-domain enzyme that uses several cofactors including tetrahydrobiopterin, nicotinamide-adenine -dinucleotide phosphate, flavin adenine dinucleotide, and flavin mononucleotide [8, 10]. The human eNOS gene is located on chromosome 7q35-36, with a length of 21 kb containing 25 introns and 26 exons [11]. eNOS is related to the dysfunction of endothelial cells, and normal eNOS function promotes pathological vascular repair, and protects against complications such as hypertension, atherosclerosis, and diabetes [10].…”

Section: Introductionmentioning

confidence: 99%

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The Endothelial Nitric Oxide Synthase Gene Polymorphism is Associated with the Susceptibility to Immunoglobulin a Nephropathy in Chinese Population

Gao

Wang

Wei

et al. 2017

Kidney Blood Press Res

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Background/Aims: Endothelial nitric oxide synthase (eNOS) is one of the most important enzymes for producting nitric oxide (NO), which regulate the function of many organs and cells. The single nucleotide polymorphisms (SNPs) of eNOS were found to be associated with many kidney diseases. However, it is lack of relevant studies to evaluate the associations between eNOS polymorphisms and immunoglobulin A nephropathy (IgAN). This case-control study aimed to evaluate the relationship between eNOS polymorphisms and IgAN. Methods: We recruited 351 IgAN patients and 310 age- and sex-matched healthy controls from Northwest China. Sequenom MassARRAY was used to detect the genotypes of two common eNOS SNPs (rs1799983 and rs2070744). Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated by the Chi square test to evaluate the associations between eNOS and IgAN. Phase 2.1 was used to conduct haplotype analysis. Results: In the overall analysis, we found that the rs1799983 polymorphism was associated with a decreased risk of IgAN (G/T vs. G/G: OR=0.57, 95%CI=0.34–0.96; G/T+T/T vs. G/G: OR=0.52, 95%CI=0.31–0.86; G/T vs. G/G-T/T: OR=0.60, 95%CI=0.36–0.99; Log-additive model: OR=0.48, 95%CI=0.30–0.78). Haplotype analysis indicated that T_rs1799983C_rs2070744 is a protective factor against IgAN (OR=0.62, 95%CI=0.42––0.92). However, no significant differences were found between the two SNPs (rs1799983 and rs2070744) and clinical features (age, sex, blood pressure, and Lee’s grade) of IgAN. Conclusion: The eNOS gene rs1799983 polymorphism and T_rs1799983C_rs2070744 haplotype may reduce the risk of IgAN in Chinese populations.

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Effects of endothelial nitric oxide synthase gene on end stage renal disease progression in autosomal dominant polycystic kidney disease

Abstract: GG genotype of the Glu298Asp variant slowed the ESRD progression in ADPKD, while a allele carriers of the 4b/a variant increased the risk of ESRD. Variants of eNOS gene might play different roles in the ESRD progression in ADPKD.

Cited by 14 publications

References 26 publications

The Clinical Manifestation and Management of Autosomal Dominant Polycystic Kidney Disease in China

The Clinical Manifestation and Management of Autosomal Dominant Polycystic Kidney Disease in China

NOS3 as a potential modifier of ADPKD phenotypic variability: Progress towards an answer

The Endothelial Nitric Oxide Synthase Gene Polymorphism is Associated with the Susceptibility to Immunoglobulin a Nephropathy in Chinese Population

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