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Alport syndrome with diffuse leiomyomatosis
Martina C Anker1, Joachim Arnemann, Katrin Neumann
1Institute of Human Genetics, Johann Wolfgang Goethe University Hospital, Frankfurt, Germany.
American Journal of Medical Genetics. Part A
|June 5, 2003
Summary
Alport syndrome with diffuse leiomyomatosis (AS-DL) is a rare genetic disorder. This case highlights a boy with AS-DL, confirmed by a COL4A5/COL4A6 gene deletion, presenting with deafness and other symptoms.
Area of Science:
- Genetics
- Nephrology
- Ophthalmology
Background:
- Alport syndrome (AS) is a hereditary nephropathy characterized by hematuria, progressive renal failure, sensorineural deafness, and ocular abnormalities.
- AS is typically X-linked, caused by mutations in the COL4A5 gene, and rarely co-occurs with diffuse leiomyomatosis (DL).
Observation:
- A 9-year-old boy presented with sensorineural deafness, congenital cataracts, dysphagia, bronchial irritation, hematuria, and severe constipation.
- These symptoms suggested a diagnosis of Alport syndrome with diffuse leiomyomatosis (AS-DL).
Findings:
- Genetic analysis confirmed a deletion in the COL4A5 and COL4A6 genes, consistent with AS-DL.
- The patient exhibited a combination of renal, auditory, ocular, and smooth muscle-related symptoms.
Implications:
- This case underscores the importance of considering AS-DL in patients with overlapping symptoms.
- Identifying the specific gene deletion (COL4A5/COL4A6) is crucial for diagnosis and potential future therapeutic strategies.