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J. Clin. Med. 2019, 8(2), 178; https://doi.org/10.3390/jcm8020178

Features of Autosomal Recessive Alport Syndrome: A Systematic Review

1
Department of Pediatrics, Chungnam National University Hospital, Daejeon 30515, Korea
2
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan
3
Department of Internal Medicine, Chungnam National University Hospital, Daejeon 30515, Korea
4
Department of Pediatrics, Seoul National University Children’s Hospital, Seoul 03080, Korea
5
Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul 03080, Korea
*
Author to whom correspondence should be addressed.
These authors contributed equally to this paper.
Received: 16 December 2018 / Revised: 27 January 2019 / Accepted: 31 January 2019 / Published: 3 February 2019
(This article belongs to the Section Nephrology & Urology)
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Abstract

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. View Full-Text
Keywords: Alport syndrome; autosomal recessive inheritance; systematic review; COL4A3 gene; COL4A4 gene; mutation Alport syndrome; autosomal recessive inheritance; systematic review; COL4A3 gene; COL4A4 gene; mutation
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Lee, J.M.; Nozu, K.; Choi, D.E.; Kang, H.G.; Ha, I.-S.; Cheong, H.I. Features of Autosomal Recessive Alport Syndrome: A Systematic Review. J. Clin. Med. 2019, 8, 178.

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