Sporadic Case of Heterozygous X-Linked Alport Syndrome
Alport syndrome is a genetically and phenotypically heterogeneous disorder that can be transmitted in an X-linked, autosomal recessive, or autosomal dominant fashion and can affect glomerular, cochlear, and ocular basement membranes. The disorder results from mutations in the collagen IV genes COL4A5 (X chromosome), COL4A3, and COL4A4. Alport patients are at lifetime risk for kidney failure, sensorineural deafness, and ocular abnormalities. Males with Alport syndrome typically present with severe phenotype with progression to end-stage kidney disease and/or sensorineural deafness and eye changes. Females generally having less severe presentation and diagnosis of X-linked Alport syndrome are generally not considered. Here, we report a case of a 3-year-old girl with gross hematuria, proteinuria, and chronic kidney disease who was found to have features of Alport syndrome on kidney biopsy and a sporadic heterozygous pathogenic COL4A5 deletion on molecular testing. This case report emphasizes the importance of kidney biopsy and molecular testing in the work up of pediatric patients with hematuria, proteinuria, and/or chronic kidney disease. It is also a poignant illustration that females with heterozygous X-linked COL4A5 mutations are often affected patients. It further illustrates the phenomenon of sporadic occurrence of genetic kidney disease in the absence of family history of kidney disease.
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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Online-Ressource
- Language
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Englisch
- Bibliographic citation
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Sporadic Case of Heterozygous X-Linked Alport Syndrome ; volume:3 ; number:1 ; year:2023 ; pages:126-131 ; extent:6
Glomerular Diseases ; 3, Heft 1 (2023), 126-131 (gesamt 6)
- Creator
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Zuckerman, Jonathan E.
Srivastava, Rachana
- DOI
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10.1159/000530994
- URN
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urn:nbn:de:101:1-2023122800181300676384
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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15.08.2025, 7:28 AM CEST
Data provider
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Zuckerman, Jonathan E.
- Srivastava, Rachana
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A family case of X-linked Alport syndrome patients with a novel variant in COL4A5
X-linked Alport syndrome presenting in mother and son with the same unique histopathological features
X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males
Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome
Easily misdiagnosed X-linked adrenoleukodystrophy
Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant
Loss of X-linked Protocadherin-19 differentially affects the behavior of heterozygous female and hemizygous male mice
X-linked disorders with cerebellar dysgenesis
X-linked SCID with a rare mutation
Preimplantation Genetic Testing Prevented Intergenerational Transmission of X-Linked Alport Syndrome
A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report
Novel Digenic Variants in COL4A4 and COL4A5 Causing X-Linked Alport Syndrome: A Case Report
A family case of X-linked Alport syndrome patients with a novel variant in COL4A5
X-linked Alport syndrome presenting in mother and son with the same unique histopathological features
X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males
Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome
Easily misdiagnosed X-linked adrenoleukodystrophy
Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant
Loss of X-linked Protocadherin-19 differentially affects the behavior of heterozygous female and hemizygous male mice
X-linked disorders with cerebellar dysgenesis