Alport syndrome, X-linked diffuse leiomyomatosis (Q97351): Difference between revisions
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Leiomiomatose difusa ligada ao X - síndrome de Alport descreve a associação da síndrome de Alport ligada ao X com leiomiomatose do omófago, árvore traqueobrônquica ou genitais femininos. A síndrome de Alport é definida por nefropatia glomerular com hematúria, que evolui para doença renal em estágio terminal, associada à surdez neurossensorial. A leiomiomatose é caracterizada por proliferação benigna de células do músculo liso. Lesões omófagas, evidenciadas por exames radiográficos, são responsáveis por disfagia e dor retroesternal. Lesões traqueobrônquicas levam a dispneia e complicações durante anestesia. Mulheres afetadas tipicamente apresentam hipertrofia clitoriana e vulvar. Esta é uma síndrome gênica contígua por deleção 5' terminal de COL4A5 e COL4A6. | |||||||||||||||
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X-linked diffuse leiomyomatosis - Alport syndrome describes the association of X-linked Alport syndrome with leiomyomatosis of the omophagous, tracheobronchial tree or female genitals. Alport syndrome is defined by glomerular nephropathy with haematuria, progressing to end-stage renal disease, associated with sensorineural deafness. Leiomyomatosis is characterised by benign smooth muscle cell proliferation. Omophagous lesions, evidenced by radiographic examinations, are responsible for dysphagia and retrosternal pain. Tracheobronchial lesions lead to dyspnoea and complications during anaesthesias. Affected females typically show clitoral and vulvar hypertrophy. This is a contiguous gene syndrome by 5' terminal deletion of both COL4A5 and COL4A6. | |||||||||||||||
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CID11:ID_119811769 | |||||||||||||||
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dki-india-ID_119811769 | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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15 August 2026
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Latest revision as of 13:27, 16 August 2026
X-linked diffuse leiomyomatosis - Alport syndrome describes the association of X-linked Alport syndrome with leiomyomatosis of the omophagous, tracheobronchial tree or female genitals. Alport syndrome is defined by glomerular nephropathy with haematuria, progressing to end-stage renal disease, associated with sensorineural deafness. Leiomyomatosis is characterised by benign smooth muscle cell proliferation. Omophagous lesions, evidenced by radiographic examinations, are responsible for dysphagia and retrosternal pain. Tracheobronchial lesions lead to dyspnoea and complications during anaesthesias. Affected females typically show clitoral and vulvar hypertrophy. This is a contiguous gene syndrome by 5' terminal deletion of both COL4A5 and COL4A6.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_119811769 |
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| English | Alport syndrome, X-linked diffuse leiomyomatosis |
X-linked diffuse leiomyomatosis - Alport syndrome describes the association of X-linked Alport syndrome with leiomyomatosis of the omophagous, tracheobronchial tree or female genitals. Alport syndrome is defined by glomerular nephropathy with haematuria, progressing to end-stage renal disease, associated with sensorineural deafness. Leiomyomatosis is characterised by benign smooth muscle cell proliferation. Omophagous lesions, evidenced by radiographic examinations, are responsible for dysphagia and retrosternal pain. Tracheobronchial lesions lead to dyspnoea and complications during anaesthesias. Affected females typically show clitoral and vulvar hypertrophy. This is a contiguous gene syndrome by 5' terminal deletion of both COL4A5 and COL4A6. |
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CID11:ID_119811769
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dki-india-ID_119811769
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Concluído
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15 August 2026
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