PKD1 gene mutation and ultrasonographic characterization in cats with renal cysts
نویسندگان
چکیده
Background: Polycystic kidney disease (PKD) has a complex phenotype partly explained by genetic variants related to this disease. Ultrasonography is promising approach for defining clinical signs. This study aimed assess characteristics in cats with Polycystin-1 (PKD1) gene mutations and wild-type cats. Kidney were identified ultrasonography. Methods: A total of 108 variable breeds aged an average 37.01±3.50 months included. Blood examination biochemical tests evaluated. For cystic formation, renal ultrasound was performed. The PKD1 mutation via polymerase chain reaction (PCR) DNA sequencing. Matrix correlation effectiveness detection determined. Results: The results showed that 19.44% had mutations, high prevalence Persian Persian-related breed Our demonstrated the kidneys mutations. Based on ultrasonography results, there association between cyst formation. findings indicated did not detect cysts 4-36 months, supporting evidence may be present. found sensitivity specificity heterozygous mutation. Moreover, formation increased risk 2,623 times compared normal kidneys. Conclusions: Ultrasonographic examination, coupled investigations, help clarify phenotypic variability PKD1. profile will guide therapeutic outcomes reduce PKD morbidity mortality cats.
منابع مشابه
Genetic and clinical studies in autosomal dominant polycystic kidney disease type 1 (ADPKD1).
Thirteen Spanish families with autosomal dominant polycystic kidney disease were studied. In one family the disease did not segregate with polymorphic markers around the PKD1 locus. All subjects over the age of 30 years carrying a mutation at the PKD1 locus showed renal ultrasonographic cysts, but 40% of carriers of the PKD1 mutation younger than 30 years did not have renal cysts. Hypertension ...
متن کاملGene conversion is a likely cause of mutation in PKD1.
Approximately 70% of the gene responsible for the most common form of autosomal dominant polycystic kidney disease ( PKD1 ) is replicated in several highly homologous copies located more proximally on chromosome 16. We recently have described a novel technique for mutation detection in the duplicated region of PKD1 that circumvents the difficulties posed by these homologs. We have used this met...
متن کاملA Novel PKD1 Mutation in a Patient with Autosomal Dominant Polycystic Kidney Disease
                 
متن کاملFeline polycystic kidney disease mutation identified in PKD1.
Autosomal dominant polycystic kidney disease (ADPKD) is a commonly inherited disorder in humans that causes the formation of fluid-filled renal cysts, often leading to renal failure. PKD1 mutations cause 85% of ADPKD. Feline PKD is autosomal dominant and has clinical presentations similar to humans. PKD affects approximately 38% of Persian cats worldwide, which is approximately 6% of cats, maki...
متن کاملUltrasonographic features differentiating thyroglossal duct cysts from dermoid cysts
PURPOSE The purpose of this study was to identify ultrasonographic features that can be used to differentiate between thyroglossal duct cysts (TGDCs) and dermoid cysts (DCs). METHODS We searched surgical pathology reports completed between January 2004 and October 2015 and identified 66 patients with TGDCs or DCs who had undergone preoperative ultrasonography. The ultrasound images were revie...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: F1000Research
سال: 2023
ISSN: ['2046-1402']
DOI: https://doi.org/10.12688/f1000research.134906.1