scholarly journals Features of Autosomal Recessive Alport Syndrome: A Systematic Review

2019 ◽  
Vol 8 (2) ◽  
pp. 178 ◽  
Author(s):  
Jiwon Lee ◽  
Kandai Nozu ◽  
Dae Choi ◽  
Hee Kang ◽  
II-Soo Ha ◽  
...  
Keyword(s):  
Systematic Review ◽  
Alport Syndrome ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Missense Mutations ◽  
Lower Prevalence ◽  
Delayed Onset ◽  
Extrarenal Manifestations ◽  
Stage Renal Disease ◽  
End Stage

Alport syndrome (AS) is one of the most frequent hereditary nephritis leading to end-stage renal disease (ESRD). Although X-linked (XLAS) inheritance is the most common form, cases with autosomal recessive inheritance with mutations in COL4A3 or COL4A4 are being increasingly recognized. A systematic review was conducted on autosomal recessive Alport syndrome (ARAS). Electronic databases were searched using related terms (until Oct 10th, 2018). From 1601 articles searched, there were 26 eligible studies with 148 patients. Female and male patients were equally affected. About 62% of patients had ESRD, 64% had sensorineural hearing loss (SNHL) and 17% had ocular manifestation. The median at onset was 2.5 years for hematuria (HU), 21 years for ESRD, and 13 years for SNHL. Patients without missense mutations had more severe outcomes at earlier ages, while those who had one or two missense mutations had delayed onset and lower prevalence of extrarenal manifestations. Of 49 patients with kidney biopsy available for electron microscopy (EM) pathology, 42 (86%) had typical glomerular basement membrane (GBM) changes, while 5 (10%) patients showed GBM thinning only. SNHL developed earlier than previously reported. There was a genotype phenotype correlation according to the number of missense mutations. Patients with missense mutations had delayed onset of hematuria, ESRD, and SNHL and lower prevalence of extrarenal manifestations.

scholarly journals A Compound Heterozygous Mutation in the Ciliary Gene TTC21B Causes Nephronophthisis Type 12

2019 ◽  
Vol 09 (03) ◽  
pp. 198-202
Author(s):  
Wafaa Moustafa M. Abo El Fotoh ◽  
Amira Fathy Al-fiky
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Renal Disorder ◽  
Pathogenic Variants ◽  
Tubulointerstitial Lesions ◽  
Stage Renal Disease ◽  
End Stage

AbstractNephronophthisis (NPHP) is one of the renal ciliopathies and is also a cystic renal disorder with an autosomal recessive inheritance, which usually progresses to end-stage renal disease (ESRD). It affects children, adolescents, and young adults. In approximately 15% of cases, the features of a ciliopathy syndrome, which include liver fibrosis, skeletal anomalies, retinal abnormalities, and neurodevelopmental delay, will be present. We describe a case of a 2-year-old male child with ESRD on hemodialysis and a family record of a similar condition (his brother). The clinical features of this child are succinctly summarized. The genetic study was conducted using whole exome sequencing. TTC21B mutational variants were detected in our patient who exhibited nephrotic-range proteinuria, focal segmental glomerulosclerosis, and tubulointerstitial lesions that evolved to ESRD. Compound heterozygous mutations, c.626c > t (p.P209L) in exon 6 and c.450 g > a (p.W150Ter) in exon 5, were uncovered. These findings are in line with the description of autosomal recessive NPHP type 12. Both clinical and pathological diagnoses of NPHP are critical, bearing in mind ESRD as well as its related extrarenal defining features. Identification of the pathogenic variants in the TTC21B gene assisted in the successful proof of the clinical diagnosis NPHP12 as well as providing information for formal suitable prenatal counseling.

scholarly journals The Genetics, Current Research, and Future Treatment of Alport Syndrome

2017 ◽  
Vol 6 (1) ◽  
pp. 1-7
Author(s):  
Elise Alexandra Kikis ◽  
Emily Holland Williams
Keyword(s):  
Basement Membrane ◽  
End Stage Renal Disease ◽  
Alport Syndrome ◽  
Autosomal Recessive ◽  
Type Iv Collagen ◽  
Autosomal Dominant ◽  
Basement Membranes ◽  
Type Iv ◽  
Stage Renal Disease ◽  
End Stage

Alport syndrome is a type IV collagen disease that affects the glomerular basement membrane of approximately one in every 5000 people. The disease was first described by A. Cecil Alport in 1927 as “a dominantly inherited hereditary nephritis.” The three genotypes of the disease are X-linked dominant, autosomal recessive, and autosomal dominant. The X-linked dominant genotype is the most common, accounting for 80% of all cases of Alport syndrome, affecting mainly men. The autosomal recessive and autosomal dominant types affect men and women equally. Alport syndrome is caused by mutations on the COL4A3, COL4A4, and COL4A5 genes, which code the ?3, ?4, and ?5 (IV) chains that make up type IV collagen molecules, an important component of basement membranes. Thus, Alport syndrome results in malformed basement membranes, with symptoms including renal impairment, hematuria, bilateral sensorineural hearing loss, and an abnormal structure of the glomerular basement membrane. Alport syndrome also often progresses to end-stage renal disease, especially in men with X-linked Alport syndrome. At this point, there is no cure for Alport syndrome. However, there are many successful treatments for its symptoms. Angiotensin-converting enzyme (ACE) inhibitors are often given to patients in the early stages of Alport syndrome. For patients with end-stage renal disease, dialysis or kidney transplants are considered the best course of action.

scholarly journals Effects of renal transplantation on erectile dysfunction: a systematic review and meta-analysis

2021 ◽  
Author(s):  
Irham Arif Rahman ◽  
Nur Rasyid ◽  
Ponco Birowo ◽  
Widi Atmoko
Keyword(s):  
Systematic Review ◽  
Erectile Dysfunction ◽  
Kidney Transplantation ◽  
Renal Transplantation ◽  
End Stage Renal Disease ◽  
Erectile Function ◽  
Meta Analysis ◽  
Post Transplantation ◽  
Stage Renal Disease ◽  
End Stage

AbstractErectile dysfunction (ED) is a major global health burden commonly observed in patients with end-stage renal disease (ESRD). Although renal transplantation improves the problem in some patients, it persists in ≈20–50% of recipients. Studies regarding the effects of kidney transplantation on ED present contradictory findings. We performed a systematic review to summarise the effects of kidney transplantation on ED. A systematic literature search was performed across PubMed, Cochrane, and Scopus databases in April 2020. We included all prospective studies that investigated the pre and posttransplant international index of erectile function (IIEF-5) scores in recipients with ED. Data search in PubMed and Google Scholar produced 1326 articles; eight were systematically reviewed with a total of 448 subjects. Meta-analysis of IIEF-5 scores showed significant improvements between pre and post transplantation. Our findings confirm that renal transplantation improves erectile function. Furthermore, transplantation also increases testosterone level. However, the evidence is limited because of the small number of studies. Further studies are required to investigate the effects of renal transplantation on erectile function.

scholarly journals Prevalence and Associated Factors of Frailty and Mortality in Patients with End-Stage Renal Disease Undergoing Hemodialysis: A Systematic Review and Meta-Analysis

2021 ◽  
Vol 18 (7) ◽  
pp. 3471
Author(s):  
Hyeon-Ju Lee ◽  
Youn-Jung Son
Keyword(s):  
Systematic Review ◽  
Renal Disease ◽  
End Stage Renal Disease ◽  
Associated Factors ◽  
Meta Analysis ◽  
Screening Tools ◽  
Cochrane Library ◽  
Stage Renal Disease ◽  
End Stage ◽  
Esrd Patients

Hemodialysis is the most common type of treatment for end-stage renal disease (ESRD). Frailty is associated with poor outcomes such as higher mortality. ESRD patients have a higher prevalence of frailty. This systematic review and meta-analysis aimed to identify the prevalence and associated factors of frailty and examine whether it is a predictor of mortality among ESRD patients undergoing hemodialysis. Five electronic databases including PubMed, Embase, CINAHL, Web of Science, and Cochrane Library were searched for relevant studies up to 30 November 2020. A total of 752 articles were found, and seven studies with 2604 participants in total were included in the final analysis. The pooled prevalence of frailty in patients with ESRD undergoing hemodialysis was 46% (95% Confidence interval (CI) 34.2−58.3%). Advanced age, female sex, and the presence of diabetes mellitus increased the risk of frailty in ESRD patients undergoing hemodialysis. Our main finding showed that patients with frailty had a greater risk of all-cause mortality compared with those without (hazard ratio (HR): 2.02, 95% CI: 1.65−2.48). To improve ESRD patient outcomes, healthcare professionals need to assess the frailty of older ESRD patients, particularly by considering gender and comorbidities. Comprehensive frailty screening tools for ESRD patients on hemodialysis need to be developed.

scholarly journals Vasculitis ANCA: Alternativas de tratamiento y las expectativas en los pacientes

2021 ◽  
pp. 1-2
Author(s):  
Carolina Aguilar-Martínez 
Keyword(s):  
Systematic Review ◽  
Cox Regression ◽  
Meta Analysis ◽  
Significant Risk ◽  
Limiting Factor ◽  
Significant Survival ◽  
Stage Renal Disease ◽  
End Stage ◽  
Immunosuppression Therapy

<b>Background:</b> The benefits of treating anti-neutrophil cytoplasmic autoantibody-associated vasculitis (AAV) in advancing age remains unclear with most published studies defining elderly as ≥65 years. This study aims to determine outcomes of induction immunosuppression in patients aged ≥75 years. <b>Methods:</b> A cohort of patients aged ≥75 years with a diagnosis of AAV between 2006 and 2018 was constructed from 2 centres. Follow-up was to 2 years or death. Analysis included multivariable Cox regression to compare mortality and end-stage renal disease (ESRD) based on receipt of induction immunosuppression therapy with either cyclophosphamide or rituximab. A systematic review of outcome studies was subsequently undertaken amongst this patient group through Pubmed, Cochrane and Embase databases from inception until October 16, 2019. <b>Results:</b> Sixty-seven patients were identified. Mean age was 79 ± 2.9 years and 82% (<i>n</i> = 55) received induction immunosuppression. Following systematic review, 4 studies were eligible for inclusion, yielding a combined total of 290 patients inclusive of our cohort. The aggregated 1-year mortality irrespective of treatment was 31% (95% CI 25–36%). Within our cohort, induction immunosuppression therapy was associated with a significantly lower 2-year mortality risk (hazard ratio [HR] 0.29 [95% CI 0.09–0.93]). The pooled HR by meta-analysis confirmed this with a significant risk reduction for death (HR 0.31 [95% CI 0.16–0.57], <i>I</i><sup>2</sup> = 0%). Treated patients had a lower pooled rate of ESRD, but was not statistically significant (HR 0.71 [95% CI 0.15–3.35]). <b>Conclusion:</b> This meta-analysis suggests that patients ≥75 years with AAV do benefit from induction immunosuppression with a significant survival benefit. Age alone should not be a limiting factor when considering treatment.

scholarly journals Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease

2021 ◽  
Vol 22 (12) ◽  
pp. 6523
Author(s):  
Adrian Cordido ◽  
Marta Vizoso-Gonzalez ◽  
Miguel A. Garcia-Gonzalez
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Molecular Basis ◽  
Autosomal Recessive ◽  
Polycystic Kidney ◽  
Phenotypic Spectrum ◽  
New Gene ◽  
Stage Renal Disease ◽  
End Stage ◽  
Molecular Pathophysiology

Autosomal recessive polycystic kidney disease (ARPKD) is a rare disorder and one of the most severe forms of polycystic kidney disease, leading to end-stage renal disease (ESRD) in childhood. PKHD1 is the gene that is responsible for the vast majority of ARPKD. However, some cases have been related to a new gene that was recently identified (DZIP1L gene), as well as several ciliary genes that can mimic a ARPKD-like phenotypic spectrum. In addition, a number of molecular pathways involved in the ARPKD pathogenesis and progression were elucidated using cellular and animal models. However, the function of the ARPKD proteins and the molecular mechanism of the disease currently remain incompletely understood. Here, we review the clinics, treatment, genetics, and molecular basis of ARPKD, highlighting the most recent findings in the field.

Progressive Resistance Training in End-Stage Renal Disease: Systematic Review

2016 ◽  
Vol 44 (1) ◽  
pp. 32-45 ◽  
Author(s):  
Danwin Chan ◽  
Birinder S. Cheema
Keyword(s):  
Systematic Review ◽  
Resistance Training ◽  
Renal Disease ◽  
End Stage Renal Disease ◽  
Protein Energy Malnutrition ◽  
Control Period ◽  
Progressive Resistance Training ◽  
Stage Renal Disease ◽  
End Stage ◽  
Progressive Resistance

Background: This systematic review provides an overview of the extant literature on progressive resistance training (PRT) in patients with end-stage renal disease (ESRD) and outlines recommendations for future trials. Methods: A systematic review of all published literature evaluating the chronic (>6 weeks) application of PRT in patients with ESRD using electronic databases. Results: The search yielded 16 clinical trials, including 11 randomized controlled trials (RCT), 4 uncontrolled trials and one trial involving a within-subjects control period plus RCT. RCT quality, assessed via the CONSORT statement, ranged from low (4/10) to high (10/10) with a mean score of 7.3/10; 7/11 RCT had a quality score ≥7.5. All trials evaluated chronic adaptation to PRT across a range of important outcomes. PRT can induce muscle hypertrophy and improve aspects of physical functioning and health-related quality of life in ESRD. There is preliminary evidence that PRT may reduce protein-energy malnutrition and cardiovascular disease risk factors, including C-reactive protein, total cholesterol, triglyceride, and measures of insulin resistance in patients with or at-risk of comorbid type 2 diabetes. The evidence base for PRT adapting some of the endpoints investigated to date remains inconsistent (e.g. physical performance tests, obesity outcomes), and many other pertinent clinical outcomes remain to be investigated. Conclusion: RCT are required to investigate a range of novel research questions related to the benefits and application of PRT in this cohort and its patient subgroups (e.g. diabetes, depression, dyslipidemia, etc.). Future studies must be of high methodological quality to inform clinical practice guidelines.

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