A Case Report of COL4A5 Gene Mutation Alport Syndrome in 2 Native African Children
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 abnormalitie...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Karger Publishers
2021-10-01
|
| Series: | Case Reports in Nephrology and Dialysis |
| Subjects: | |
| Online Access: | https://www.karger.com/Article/FullText/519076 |
| _version_ | 1818400003053322240 |
|---|---|
| author | Emmanuel Oduware Nosakhare Joyce Iduoriyekemwen Michael Ibadin Henry Aikhionbare |
| author_facet | Emmanuel Oduware Nosakhare Joyce Iduoriyekemwen Michael Ibadin Henry Aikhionbare |
| author_sort | Emmanuel Oduware |
| collection | DOAJ |
| description | 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 COL4A5 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. |
| first_indexed | 2024-12-14T07:29:39Z |
| format | Article |
| id | doaj.art-82dd3681c5114ec091d337bb0b1f3fa9 |
| institution | Directory Open Access Journal |
| issn | 2296-9705 |
| language | English |
| last_indexed | 2024-12-14T07:29:39Z |
| publishDate | 2021-10-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Case Reports in Nephrology and Dialysis |
| spelling | doaj.art-82dd3681c5114ec091d337bb0b1f3fa92022-12-21T23:11:25ZengKarger PublishersCase Reports in Nephrology and Dialysis2296-97052021-10-0111330831310.1159/000519076519076A Case Report of COL4A5 Gene Mutation Alport Syndrome in 2 Native African ChildrenEmmanuel Oduware0https://orcid.org/0000-0002-7315-2393Nosakhare Joyce Iduoriyekemwen1https://orcid.org/0000-0002-8857-7175Michael Ibadin2Henry Aikhionbare3Department of Family Medicine, University of Benin Teaching Hospital, Benin City, NigeriaDepartment of Child Health, University of Benin/University of Benin Teaching Hospital, Benin City, NigeriaDepartment of Child Health, University of Benin/University of Benin Teaching Hospital, Benin City, NigeriaDepartment of Child Health, University of Benin/University of Benin Teaching Hospital, Benin City, NigeriaAlport 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 COL4A5 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.https://www.karger.com/Article/FullText/519076col4a5 gene mutationchildrenalport syndrome |
| spellingShingle | Emmanuel Oduware Nosakhare Joyce Iduoriyekemwen Michael Ibadin Henry Aikhionbare A Case Report of COL4A5 Gene Mutation Alport Syndrome in 2 Native African Children Case Reports in Nephrology and Dialysis col4a5 gene mutation children alport syndrome |
| title | A Case Report of COL4A5 Gene Mutation Alport Syndrome in 2 Native African Children |
| title_full | A Case Report of COL4A5 Gene Mutation Alport Syndrome in 2 Native African Children |
| title_fullStr | A Case Report of COL4A5 Gene Mutation Alport Syndrome in 2 Native African Children |
| title_full_unstemmed | A Case Report of COL4A5 Gene Mutation Alport Syndrome in 2 Native African Children |
| title_short | A Case Report of COL4A5 Gene Mutation Alport Syndrome in 2 Native African Children |
| title_sort | case report of col4a5 gene mutation alport syndrome in 2 native african children |
| topic | col4a5 gene mutation children alport syndrome |
| url | https://www.karger.com/Article/FullText/519076 |
| work_keys_str_mv | AT emmanueloduware acasereportofcol4a5genemutationalportsyndromein2nativeafricanchildren AT nosakharejoyceiduoriyekemwen acasereportofcol4a5genemutationalportsyndromein2nativeafricanchildren AT michaelibadin acasereportofcol4a5genemutationalportsyndromein2nativeafricanchildren AT henryaikhionbare acasereportofcol4a5genemutationalportsyndromein2nativeafricanchildren AT emmanueloduware casereportofcol4a5genemutationalportsyndromein2nativeafricanchildren AT nosakharejoyceiduoriyekemwen casereportofcol4a5genemutationalportsyndromein2nativeafricanchildren AT michaelibadin casereportofcol4a5genemutationalportsyndromein2nativeafricanchildren AT henryaikhionbare casereportofcol4a5genemutationalportsyndromein2nativeafricanchildren |