臺灣博碩士論文加值系統

體染色體顯性多囊性腎臟疾病(Autosomal dominant polycystic kidney disease； ADPKD)為一種常見的腎臟遺傳基因疾病，盛行率約1/1000，約佔末期腎臟病(ESRD)之8-10%。此疾病於中年時期在腎臟會慢慢形成囊腫及腫大，導致腎衰竭，最後需終身洗腎或換腎，造成嚴重的健康問題及社會照料問題。體染色體顯性多囊性腎臟疾病目前已發現與兩個基因的突變有密切關係，分別是PKD1及PKD2。PKD1位於染色體16p13.3，而PKD2位於染色體4q21。PKD1的基因突變約佔85%之案例，且易導致嚴重的疾病病程，平均ESRD約發生於53歲，而PKD2的基因突變引發的疾病平均約69歲發病約佔15%之案例。本研究以遺傳諮詢及回溯性病歷分析的方法記錄體染色體顯性多囊腎病患30個家族的遺傳模式及多囊腎病患的健康狀態。進而對於病患本身治療及預後，提供專業的遺傳諮詢，協助個人家庭或整個家族來面對問題。在30個多囊腎家族中，以初次就診原因探討發現，因家族成員為多囊腎患者且經由遺傳諮詢人員諮詢後，其家屬接受腎臟科診斷的人數居多占33﹪，其次為因高血壓而腎臟科診斷的人數居次占28﹪。本研究統計這30個多囊腎家族共約276人發現其中有87人診斷為多囊腎，其中已經接受透析治療者男性占9﹪，而女性占10﹪，總計透析人數佔診斷為多囊腎人數為21﹪。多囊性腎臟病在30個家族中初次診斷的年齡以26-30歲居多占16﹪，而開始接受透析治療則以46-55歲者居多占56﹪。由此研究可知，隨著醫療資訊的進步，病患對遺傳疾病資訊的需求年齡層逐漸降低，而對於可以藉由遺傳諮詢的方法了解疾病，並延緩疾病進展的需求，改善遺傳疾病病患的生活品質，更是刻不容緩。

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary disorders. ADPKD has a prevalence of 1: 1000. In additions, this disease accounts for 8~10 percent of the cases of end-stage renal disease. ADPKD is generally a late onset disorder characterized by progressive cyst development and bilaterally enlarged polycystic kidneys. The manifestations of kidney in ADPKD include renal function abnormalities, hypertension, renal pain, and renal insufficiency. The 85% of individuals, ADPKD are caused by mutations in the gene PKD1.PKD1 gene is located on the short arm of chromosome 16 (16p13.3), the resting 15% patients are found mutations in PKD2 gene that is located on the long arm of chromosome 4 (4q21). This study on the genetic counseling of ADPKD based on retrospective chart review of30 ADPKD families with their heredity models and their clinical appearance. We found 87 definite cases with ADPKD. 18 of these ADPKD cases had already received hemodialysis including 9 % male and 10% female. The age of initial diagnosis was between 26-30 years old. The age of receiving initial hemodialysis was between 46-55 years old. By the genetic counseling our patients not only recognized the hereditary pattern of the in the early stage but also enjoy good quality of life from the delayed progression of renal function.

口試委員會審定書
誌謝……………………………… Ⅰ
中文摘要…………………Ⅱ
英文摘要……………………………………Ⅲ
壹、研究背景……………………………… 1
貳、研究方法………………………….…………10
叁、結果………………….……………13
肆、討論……………………… ………………….35
伍、參考資料……………………………….40
附件一……………………………………….42
附件二…………………………………..48
圖目錄
Figure1.二次打擊理論…………………………3
Figure 2. 體染色體顯性多囊腎遺傳諮詢流程表……………..14
Figure 3.診斷為多囊腎患者初次就診原因分析圖………...18
Figure 4. 許×玲遺傳諮詢紀錄單…………………………21
Figure 5.許×玲2006（右腎）腎臟超音波圖…………………..22
Figure 6許×玲2006（左腎）腎臟超音波圖…………………..22
Figure 7.許×玲腎臟超音波數據及血液資料圖…………………23
Figure 8許蘇×華1992（左腎）腎臟超音波圖………………24
Figure 9.許蘇×華1992（右腎）腎臟超音波圖………………24
Figure 10.許蘇×華2006（左腎）腎臟超音波圖……………25
Figure 11.許蘇×華2006（右腎）腎臟超音波圖……………….25
Figure 12.許蘇×華腎臟超音波數據及血液資料圖……………26
Figure 13黃×妹遺傳諮詢紀錄單……………………..27
Figure 14黃×妹腎臟超音波數據及血液資料圖……………..28
Figure 15黃×妹2006腎臟超音波（左腎）圖………………28
Figure 16.黃×妹2006腎臟超音波（右腎）圖………………29
Figure 17.吳×男腎臟超音波數據及血液資料圖………………..30
Figure 18.吳×男腎臟超音波（左腎）圖……………………..30
Figure 19.吳×男腎臟超音波（右腎）圖……………………..31
Figure 20林×洋遺傳諮詢紀錄單…………………………..32
Figure 21.林×龍腎臟超音波數據及血液資料圖………………..33
Figure 22.林×洋腎臟超音波數據及血液資料圖……………..33
Figure 23楊×維遺傳諮詢紀錄單…………………..34

表目錄
Table1台灣地區八十八年度血液透析院所媒體申報資料…………4
Table2. 腎臟超音波診斷(遺傳相關)台北林口長庚醫院92-94年統計表…17
Table3. 多囊腎家族譜統計表……………………………..17
Table 4. 診斷為多囊腎且已經接受透析治療者性別人數分析表…….18
Table 5. 診斷為多囊腎及開始接受透析治療年齡別人數分析表…….19
Table 6. 多囊腎病患接受透析治療統計資料表………….20

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