scholarly journals A Case Report of COL4A5 Gene Mutation Alport Syndrome in 2 Native African Children

2021 ◽  
pp. 308-313
Author(s):  
Emmanuel Oduware ◽  
Nosakhare Joyce Iduoriyekemwen ◽  
Michael Ibadin ◽  
Henry Aikhionbare
Keyword(s):  
Gene Mutation ◽  
Alport Syndrome ◽  
Enzyme Inhibitors ◽  
Sensorineural Deafness ◽  
Angiotensin Converting Enzyme Inhibitors ◽  
High Tone ◽  
Converting Enzyme Inhibitors ◽  
Ocular Abnormalities ◽  
Stage Renal Disease ◽  
End Stage

Alport syndrome is a heterogeneous genetic disease involving the basement membrane of the glomeruli, inner ear, retina, and lens capsule. It typically manifests as progressive glomerulopathy that frequently results in end-stage renal disease, high-tone sensorineural deafness, and ocular abnormalities of anterior lenticonus and yellow and white dots and flecks on the macular of the retina. In this report, we describe the cases of 2 siblings: 15- and 13-year-old boys of pure African descent with the <i>COL4A5</i> gene mutation. Both children had the classical features of Alport syndrome haematuria, proteinuria, progressive sensorineural high-tone hearing loss, and ocular abnormalities. Their renal abnormalities initially regressed on therapy with angiotensin-converting enzyme inhibitors but reoccurred, depicting the need for early diagnosis as the early institution of this therapy before significant glomerulopathy is advocated.

scholarly journals Coronavirus disease 2019 (COVID-19) and QTc prolongation

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Khalid Changal ◽  
David Paternite ◽  
Sean Mack ◽  
Spiro Veria ◽  
Rehana Bashir ◽  
...  
Keyword(s):  
Cardiovascular Disease ◽  
Enzyme Inhibitors ◽  
Cardiac Injury ◽  
Angiotensin Converting Enzyme Inhibitors ◽  
Qtc Interval ◽  
Qtc Prolongation ◽  
Converting Enzyme Inhibitors ◽  
Stage Renal Disease ◽  
End Stage ◽  
Relationship Of

Abstract Introduction The cause-and-effect relationship of QTc prolongation in Coronavirus disease 2019 (COVID-19) patients has not been studied well. Objective We attempt to better understand the relationship of QTc prolongation in COVID-19 patients in this study. Methods This is a retrospective, hospital-based, observational study. All patients with normal baseline QTc interval who were hospitalized with the diagnosis of COVID-19 infection at two hospitals in Ohio, USA were included in this study. Results Sixty-nine patients had QTc prolongation, and 210 patients continued to have normal QTc during hospitalization. The baseline QTc intervals were comparable in the two groups. Patients with QTc prolongation were older (mean age 67 vs. 60, P 0.003), more likely to have underlying cardiovascular disease (48% versus 26%, P 0.001), ischemic heart disease (29% versus 17%, P 0.026), congestive heart failure with preserved ejection fraction (16% versus 8%, P 0.042), chronic kidney disease (23% versus 10%, P 0.005), and end-stage renal disease (12% versus 1%, P < 0.001). Patients with QTc prolongation were more likely to have received hydroxychloroquine (75% versus 59%, P 0.018), azithromycin (18% vs. 14%, P 0.034), a combination of hydroxychloroquine and azithromycin (29% vs 7%, P < 0.001), more than 1 QT prolonging agents (59% vs. 32%, P < 0.001). Patients who were on angiotensin-converting enzyme inhibitors (ACEi) were less likely to develop QTc prolongation (11% versus 26%, P 0.014). QTc prolongation was not associated with increased ventricular arrhythmias or mortality. Conclusion Older age, ESRD, underlying cardiovascular disease, potential virus mediated cardiac injury, and drugs like hydroxychloroquine/azithromycin, contribute to QTc prolongation in COVID-19 patients. The role of ACEi in preventing QTc prolongation in COVID-19 patients needs to be studied further.

Alport syndrome

2018 ◽  
Author(s):  
Laurence Heidet ◽  
Bertrand Knebelmann ◽  
Marie Claire Gubler
Keyword(s):  
Renal Failure ◽  
Hearing Loss ◽  
Alport Syndrome ◽  
Significant Risk ◽  
Angiotensin Converting Enzyme Inhibitors ◽  
Aortic Disease ◽  
Converting Enzyme Inhibitors ◽  
Ocular Abnormalities ◽  
End Stage Renal Failure ◽  
End Stage

This chapter describes the clinical features of Alport syndrome. The characteristic features of this familial condition are haematuria with progressive nephropathy and sensorineural hearing loss. Most cases are X-linked so this is typically seen in boys and young men, but female heterozygous (‘carriers’) of X-linked Alport syndrome are also at significant risk of renal disease in their lifetime. The average age of end-stage renal failure is in the third or fourth decade. Those with autosomal recessive disease (approximately 15%) show a similar phenotype. Hearing loss characteristically develops during teenage years or as a young adult, usually as proteinuria becomes prominent and renal function begins to be lost. Angiotensin-converting enzyme inhibitors may modify this classic description. Ocular abnormalities are less consistent and tend to occur later, often after end-stage renal failure. Retinal changes do not affect sight. Lenticonus can be treated by lens replacement. Other ocular abnormalities occur rarely. Aortic disease has been reported in occasional families.

Alport syndrome

2015 ◽  
Author(s):  
Laurence Heidet ◽  
Bertrand Knebelmann ◽  
Marie Claire Gubler
Keyword(s):  
Renal Failure ◽  
Hearing Aids ◽  
Alport Syndrome ◽  
Enzyme Inhibitors ◽  
Angiotensin Converting Enzyme Inhibitors ◽  
Converting Enzyme Inhibitors ◽  
End Stage Renal Failure ◽  
Animal Data ◽  
Average Survival ◽  
End Stage

Management of Alport syndrome has in the past been expectant and supportive. Modern hearing aids have substantially improved the function of affected individuals. However, animal data and more recently observational data from Alport registries strongly suggest a protective effect of angiotensin-converting enzyme inhibitors. There is a suggestion that early commencement of treatment may slow progression substantially. These should now be recommended for all with proteinuria, and possibly even before then for those known to harbour mutations certain to cause end-stage renal failure. A very small minority develop the difficult post-transplant complication of Alport anti-glomerular basement membrane disease. This can rarely be treated successfully and leaves some patients on long-term dialysis. However, overall, patients with Alport syndrome have better than average survival and other outcomes than other patients with end-stage renal failure. Most are successfully transplanted. The question of risk to heterozygous carriers from donating kidneys to their affected relatives arises frequently. The risks may be felt acceptable in some circumstances. Additional therapies are under investigation.

scholarly journals Angiotensin-converting enzyme inhibitors/angiotensin receptor blockers, β-blockers or both in incident end-stage renal disease patients without cardiovascular disease: a propensity-matched longitudinal cohort study

2018 ◽  
Vol 34 (7) ◽  
pp. 1216-1222 ◽  
Author(s):  
João Pedro Ferreira ◽  
Cécile Couchoud ◽  
John Gregson ◽  
Aurélien Tiple ◽  
François Glowacki ◽  
...  
Keyword(s):  
Enzyme Inhibitors ◽  
Angiotensin Receptor Blockers ◽  
Angiotensin Converting Enzyme Inhibitors ◽  
Converting Enzyme Inhibitors ◽  
Receptor Blockers ◽  
Β Blockers ◽  
Cv Disease ◽  
Stage Renal Disease ◽  
End Stage ◽  
Esrd Patients

Abstract Background End-stage renal disease (ESRD) patients even without known cardiovascular (CV) disease have high mortality rates. Whether neurohormonal blockade treatments improve outcomes in this population remains unknown. The aim of this study was to assess the effect of angiotensin-converting enzyme inhibitors/angiotensin receptor blockers (ACEi/ARBs), β-blockers or both in all-cause mortality rates in incident ESRD patients without known CV disease starting renal replacement therapy (RRT) between 2009 and 2015 in the nationwide Réseau Epidémiologie et Information en Néphrologie registry. Methods Patients with known CV disease and those who started emergency RRT, stopped RRT or died within 6 months were excluded. Propensity score matching models were used. The main outcome was all-cause mortality. Results A total of 13 741 patients were included in this analysis. The median follow-up time was 24 months. When compared with matched controls without antihypertensive treatment, treatment with ACEi/ARBs, β-blockers and ACEi/ARBs + β-blockers was associated with an event-rate reduction per 100 person-years: ACEi/ARBs 7.6 [95% confidence interval (CI) 7.1–8.2] versus matched controls 9.5 (8.8–10.1) [HR 0.76 (95% CI 0.69–0.84)], β-blocker 7.1 (6.6–7.7) versus matched controls 9.5 (8.5–10.2) [HR 0.72 (0.65–0.80)] and ACEi/ARBs + β-blockers 5.8 (5.4–6.4) versus matched controls 7.8 (7.2–8.4) [HR 0.68 (0.61–0.77)]. Conclusions Neurohormonal blocking therapies were associated with death rate reduction in incident ESRD without CV disease. Whether these relationships are causal will require randomized controlled trials.

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