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Correlation between the PKD1 Gene Mutation and Ultrasonographic Examination in Diagnosis of Feline Polycystic Kidney Disease
|關鍵字:||feline polycystic kidney disease|
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|摘要:||多囊腎病侵犯了全世界約37-49 %的波斯貓及波斯相關品種貓隻，是貓最常見的遺傳性疾病。多囊腎病的定義為出現在腎臟皮質及髓質各種不同大小充滿液體的囊腫，甚至是肝臟、胰臟及子宮都可以見到。這些從出生即出現的腎臟囊腫，會隨著年齡增加而變大，最後壓迫腎臟實質造成不可回復性的腎衰竭。貓PKD1 gene exon 29上的點突變，是造成貓多囊腎病的原因，並且有自體顯性的遺傳模式。超音波是目前被廣泛用於診斷多囊腎病的工具，可以見到患貓腎臟中無或低回音性、圓形或卵圓形、與周圍腎臟組織界限分明的囊腫影像。本研究的實驗方法為隨機收集2006年十二月至2008年四月間至中興大學獸醫教學醫院就診的波斯貓及波斯相關品種的貓隻，一方面進行腹腔超音波學檢查，包括膀胱、雙側腎臟及肝臟，並紀錄是否患有多囊腎病；另一方面採血後萃取核苷酸，再利用聚合酶鏈反應增幅貓PKD1基因exon 29，定序後和正常基因比對，區分正常或是突變的基因型。最後比較這兩個檢測的結果，並且探討各種可能影響多囊腎病發生的因素。本研究總共收集111個貓隻病例，其中70隻為波斯貓，其餘41隻貓來自其他品種，包括13隻金吉拉貓、10隻短毛家貓、5隻美國短毛貓、5隻喜馬拉雅貓、3隻布偶貓、2隻孟加拉貓、1隻英國短毛貓、1隻異國短毛貓和1隻暹邏貓。所有的病例都進行PKD1基因exon 29點突變檢測，但其中只有54隻貓經過腹腔超音波學檢查。結果顯示以超音波及基因檢測多囊腎病在波斯貓的盛行率分別為24.24 %及15.71 %，這個比例明顯小於過去的報告。以超音波檢查診斷為多囊腎病的貓隻，在種別、診斷年齡、性別、腎臟指數及腎臟外的病灶都與未受侵犯貓隻沒有顯著相關性。而以基因檢測帶有PKD1基因點突變的貓隻，卻發現與性別有相關性，雄性顯著大於雌性貓隻。帶有PKD1基因點突變的貓隻，經過超音波檢查後都發現患有多囊腎病，而3隻經過超音波檢查診斷為多囊腎病的貓隻，卻發現並未帶有PKD1基因點突變。這個結果暗示可能有其他基因突變會造成多囊腎病，甚至影響其性別的分布。利用針對PKD1之exon 29診斷貓多囊腎病可能會造成偽陰性的結果。此外，除了波斯貓之外其他短毛品系的貓隻也有罹患多囊腎病的危險性。持續幾年的調查是獲得實際貓多囊腎病貓隻盛行率所必須的。此外，發展聚合酶鍊反應-增幅阻礙突變系統應用於貓多囊腎病的已知點突變的診斷，期望可以對未來疾病的盛行率及基因型調查會有很大的幫助。|
Feline polycystic kidney disease (PKD) is the most prevalent inherited disease of cats. It affected 37-49% Persian and Persian-related cats worldwide. PKD is characterized by the growth of fluid-filled cysts of different sizes in renal cortex and medulla, liver, pancreases and uterus. These cysts arise at birth and become larger with age, oppressing the renal parenchyma leading to irreversible renal failure finally. The point mutation in feline PKD1 gene exon29 is responsible for feline PKD with an autosomal dominant trait. Ultrasonographic examination is widely used for diagnosis, the cyst images of anechoic or hypoechoic, round shape and well-differentiated from renal tissue are showed in PKD affected cats. We collected Persian and Persian-related cats submitted to NCHU VMTH from December 2006 to April 2008. Ultrasonographic (USG)examination of urinary bladder, both kidneys and liver of cats was performed. In addition, polymerase chain reaction (PCR) was applied to amplify PKD1 gene exon29 of feline genomic DNA extracted from anticoagulant blood and the sequences of resulting PCR products were further identified by direct sequencing. Finally, Attempt was made to search the possible factors that affect the occurrence of PKD by comparing the results of USG examination and PKD1 gene mutation. In this study, we collected 111 cats consisting of 70 Persians, 13 Chinchilla, 10 Domestic Shorthair, 5 Himalaya, 5 American Shorthair, 3 Ragdoll, 2 Bengal, 1 Irish Shorthair, 1 Exotic Shorthair and 1 Siamese. All of the cats were examined by genetic test; among them only 54 cats were screened by ultrasound. The results showed the prevalence of PKD affected Persian cats diagnosed by USG and gene testing were 24.24% and 15.71% respectively. The prevalence was lower than that was reported previously. There was no correlation in breeds, age of diagnosis, sex, renal index and extrarenal lesions between the PKD affected cats diagnosed by USG and unaffected cats. However, cats with the PKD1 gene point mutation detected by gene testing related to gender of cats with significant difference. The male cats have higher risk to PKD than female cats. Moreover, cats with the PKD1 gene point mutation and examined by USG were all diagnosed as PKD, but 3 PKD affected cats diagnosed by ultrasound were absent of this mutation. The results suggested other mutations resembled in human PKD, may contribute to feline PKD, even influence the sex distribution. The use of gene testing to diagnose feline PKD may cause false negative results. Furthermore, not only Persian but also other Shorthair breeds had a risk of developing PKD. However, in order to obtain the exactly prevalence of feline PKD in Tai-Chung, continued investigation and increase of sample size are needed. Besides the conventional PCR, in this study, PCR-Amplification Refractory Mutation System assay was successfully developed to detect the point mutation in PKD1 gene exon 29 without sequencing, this would facilitate the survey of feline PKD prevalence and the genotype in the future.
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