- 期刊
Alport氏症候群－二例報告
Alport's Syndrome – Report of Two Cases
摘要
Alport氏症候群為一遺傳性疾病，主要是經由性染色體顯性遺傳（X-linked dominant）。臨床上以進行性腎衰竭及感音性聽力障礙為主要表現，有時伴有眼部異常。本文報告2例25歲和23歲兄弟，自幼年時出現血尿，國中時期開始有漸進性聽力障礙，2年前因腎衰竭於本院接受血液透析。病人的臨床表現和文獻報告相符。事實上，Alport氏症候群並非極少見之病例，家族病史在診斷上應該特別重視。
並列摘要
Alport’s syndrome is an inherited disease characterized by progressive renal insufficiency and sensorineural hearing loss. The major mode of transmission of Alport’s syndrome is through X-linked dominant inheritance. We report two cases of Alport’s syndrome manifested with early onset hematuria and progressive sensorineural hearing loss. Both of them are now receiving hemodialysis due to end stage renal disease in our hospital. Alport’s syndrome is not an uncommon disease. Early diagnosis depends upon careful review of the family history and clinical manifestations.
延伸閱讀
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