Alport Syndrome and Other Type IV Collagen Disorders

Michelle N. Rheault; Rachel Lennon

doi:10.1007/978-3-031-11665-0_16

Alport Syndrome and Other Type IV Collagen Disorders

Michelle N. Rheault
, Rachel Lennon

Pediatric Nephrology

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Abstract

Familial glomerular hematuria syndromes result from variants that affect the genes that encode type IV collagen, the major collagenous constituent of glomerular basement membranes (GBM): Alport syndrome (AS) and hereditary angiopathy with nephropathy, aneurysms and cramps (HANAC) syndrome. Persistent hematuria is a cardinal feature of each of these disorders. Pathogenic variants in any of three type IV collagen genes, COL4A3, COL4A4 or COL4A5, can cause AS, which is characterized by progressive deterioration of kidney function, with associated hearing and ocular involvement in many affected individuals. Heterozygous variants in these genes are also significant and link to a wider spectrum of kidney disease. Variants in COL4A3, COL4A4 or COL4A5 account for about 30-50% of children with isolated glomerular hematuria seen in pediatric nephrology clinics. HANAC syndrome arises from variants in COL4A1.

Original language	English (US)
Title of host publication	Pediatric Kidney Disease
Publisher	Springer International Publishing
Pages	493-507
Number of pages	15
ISBN (Electronic)	9783031116650
ISBN (Print)	9783031116643
DOIs	https://doi.org/10.1007/978-3-031-11665-0_16
State	Published - Jan 1 2023

Bibliographical note

Publisher Copyright:
© The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2008, 2016, 2023.

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Alport syndrome
Familial nephritis
Focal segmental glomerulosclerosis
Sensorineural hearing loss
Type IV collagen

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10.1007/978-3-031-11665-0_16

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title = "Alport Syndrome and Other Type IV Collagen Disorders",

abstract = "Familial glomerular hematuria syndromes result from variants that affect the genes that encode type IV collagen, the major collagenous constituent of glomerular basement membranes (GBM): Alport syndrome (AS) and hereditary angiopathy with nephropathy, aneurysms and cramps (HANAC) syndrome. Persistent hematuria is a cardinal feature of each of these disorders. Pathogenic variants in any of three type IV collagen genes, COL4A3, COL4A4 or COL4A5, can cause AS, which is characterized by progressive deterioration of kidney function, with associated hearing and ocular involvement in many affected individuals. Heterozygous variants in these genes are also significant and link to a wider spectrum of kidney disease. Variants in COL4A3, COL4A4 or COL4A5 account for about 30-50\% of children with isolated glomerular hematuria seen in pediatric nephrology clinics. HANAC syndrome arises from variants in COL4A1.",

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AU - Rheault, Michelle N.

AU - Lennon, Rachel

N1 - Publisher Copyright: © The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2008, 2016, 2023.

PY - 2023/1/1

Y1 - 2023/1/1

N2 - Familial glomerular hematuria syndromes result from variants that affect the genes that encode type IV collagen, the major collagenous constituent of glomerular basement membranes (GBM): Alport syndrome (AS) and hereditary angiopathy with nephropathy, aneurysms and cramps (HANAC) syndrome. Persistent hematuria is a cardinal feature of each of these disorders. Pathogenic variants in any of three type IV collagen genes, COL4A3, COL4A4 or COL4A5, can cause AS, which is characterized by progressive deterioration of kidney function, with associated hearing and ocular involvement in many affected individuals. Heterozygous variants in these genes are also significant and link to a wider spectrum of kidney disease. Variants in COL4A3, COL4A4 or COL4A5 account for about 30-50% of children with isolated glomerular hematuria seen in pediatric nephrology clinics. HANAC syndrome arises from variants in COL4A1.

AB - Familial glomerular hematuria syndromes result from variants that affect the genes that encode type IV collagen, the major collagenous constituent of glomerular basement membranes (GBM): Alport syndrome (AS) and hereditary angiopathy with nephropathy, aneurysms and cramps (HANAC) syndrome. Persistent hematuria is a cardinal feature of each of these disorders. Pathogenic variants in any of three type IV collagen genes, COL4A3, COL4A4 or COL4A5, can cause AS, which is characterized by progressive deterioration of kidney function, with associated hearing and ocular involvement in many affected individuals. Heterozygous variants in these genes are also significant and link to a wider spectrum of kidney disease. Variants in COL4A3, COL4A4 or COL4A5 account for about 30-50% of children with isolated glomerular hematuria seen in pediatric nephrology clinics. HANAC syndrome arises from variants in COL4A1.

KW - Alport syndrome

KW - Familial nephritis

KW - Focal segmental glomerulosclerosis

KW - Sensorineural hearing loss

KW - Type IV collagen

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M3 - Chapter

AN - SCOPUS:85207166229

SN - 9783031116643

SP - 493

EP - 507

BT - Pediatric Kidney Disease

PB - Springer International Publishing

ER -

Alport Syndrome and Other Type IV Collagen Disorders

Abstract

Bibliographical note

UN SDGs

Keywords

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