Alport syndrome: facts and opinions

Kashtan, Clifford E.

doi:10.12688/f1000research.9636.1

Cited by 38 publications

(43 citation statements)

References 66 publications

(64 reference statements)

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“…Although ADAS was thought to be an extremely rare disease and its disease concept was unclear for a long time, recent studies clarified genetic, clinical, and pathological features [6]. Furthermore, due to the rapid development of comprehensive genetic analysis technique using next-generation sequencing (NGS), it has been revealed that the number of patients with chronic kidney disease (CKD) caused by these gene mutations is far higher than previously expected [9][10][11][12], resulting in ongoing discussions regarding the diagnosis of this condition [13][14][15][16][17]. Here, we review the previous publications regarding TBMN and ADAS and discuss the diagnosis of cases with heterozygous COL4A3 or COL4A4 variants.…”

Section: Introductionmentioning

confidence: 99%

How to resolve confusion in the clinical setting for the diagnosis of heterozygous COL4A3 or COL4A4 gene variants? Discussion and suggestions from nephrologists

et al. 2020

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Both thin basement membrane nephropathy (TBMN) and autosomal dominant Alport syndrome (ADAS) are types of hereditary nephritis resulting from heterozygous mutations in COL4A3 or COL4A4 genes. Although TBMN is characterized by hematuria and thinning of the glomerular basement membrane (GBM) with excellent renal prognosis, some patients develop end-stage renal disease (ESRD) later in life. In contrast, although AS is characterized by progressive nephropathy with lamellation of the GBM, there are some patients diagnosed with ADAS from a family history of ESRD but who only suffer from hematuria with GBM thinning. These findings indicate a limitation in distinction between TBMN and ADAS. Diagnosis of AS is significant because it facilitates careful follow-up and early treatment, whereas diagnosis of TBMN can underestimate the risk of ESRD. However, some experts are against using the term ADAS as the phenotypes of heterozygous variants vary from no urinary abnormality to ESRD, even between family members with the same mutations, indicating that unknown secondary factors may play a large role in the disease severity. These diagnostic difficulties result in significant confusion in clinical settings. Moreover, recent studies revealed that the number of patients with chronic kidney disease caused by these gene mutations is far higher than previously thought. The aim of this article is to review differing opinions regarding the diagnosis of heterozygous COL4A3 or COL4A4 variants, and to highlight the importance for nephrologists to recognize this disease, and the importance of the need to reclassify this disease to minimize the current confusion.

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Section: Introductionmentioning

confidence: 99%

How to resolve confusion in the clinical setting for the diagnosis of heterozygous COL4A3 or COL4A4 gene variants? Discussion and suggestions from nephrologists

et al. 2020

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“…94 Anterior lenticonus that results from inability of the lens to hold its shape can result in myopia. 95,96 Though the exact mechanism of SNHL in AS is yet undetermined, bilateral progressive high-frequency loss is seen in most cases. [95][96][97] In X-linked males, 50% have some hearing loss at age 15 and 90% have hearing loss by age 40.…”

Section: Alport Syndromementioning

confidence: 99%

“…95,96 Though the exact mechanism of SNHL in AS is yet undetermined, bilateral progressive high-frequency loss is seen in most cases. [95][96][97] In X-linked males, 50% have some hearing loss at age 15 and 90% have hearing loss by age 40. 98 Early hearing loss often portends worse renal damage.…”

Section: Alport Syndromementioning

confidence: 99%

Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics

Gettelfinger

Dahl

2018

J Pediatr Genet

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Congenital hearing loss is one of the most common birth defects worldwide, with around 1 in 500 people experiencing some form of severe hearing loss. While over 400 different syndromes involving hearing loss have been described, it is important to be familiar with a wide range of syndromes involving hearing loss so an early diagnosis can be made and early intervention can be pursued to maximize functional hearing and speech-language development in the setting of verbal communication. This review aims to describe the presentation and genetics for some of the most frequently occurring syndromes involving hearing loss, including neurofibromatosis type 2, branchio-oto-renal syndrome, Treacher Collins syndrome, Stickler syndrome, Waardenburg syndrome, Pendred syndrome, Jervell and Lange-Nielsen syndrome, Usher syndromes, Refsum disease, Alport syndrome, MELAS, and MERRF.

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“…Unbehandelt führt das Alport-Syndrom häufig in der zweiten bis dritten Lebensdekade zu einer dialysepflichtigen chronischen Nierenerkrankung. Neuere Daten deuten dagegen auf einen sehr guten Verlauf unter Therapie mit einem ACE-Hemmer hin [19,20]. Grundlage der Erkrankung ist ein Defekt der Kollagensynthese mit Veränderungen u. a. der glomerulären Basalmembran.…”

Section: Nephrotisches Syndromunclassified

Proteinurie und Hämaturie

Liebau¹

2017

Pädiatrie up2date

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Alport syndrome: facts and opinions

Abstract: In this commentary, I review recent advances in Alport syndrome genetics, diagnostics, and therapeutics. I also offer some opinions regarding strategies to optimize the early identification of affected individuals to promote early therapeutic intervention.

Cited by 38 publications

References 66 publications

How to resolve confusion in the clinical setting for the diagnosis of heterozygous COL4A3 or COL4A4 gene variants? Discussion and suggestions from nephrologists

How to resolve confusion in the clinical setting for the diagnosis of heterozygous COL4A3 or COL4A4 gene variants? Discussion and suggestions from nephrologists

Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics

Proteinurie und Hämaturie

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