Autosomal dominant polycystic kidney disease: molecular genetics and molecular pathogenesis

2000 ◽  
Vol 107 (2) ◽  
pp. 115-126 ◽  
Author(s):  
Michael Koptides ◽  
C. Constantinou Deltas
Keyword(s):  
Kidney Disease ◽  
Molecular Genetics ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Molecular Pathogenesis ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

The Molecular Genetics of Autosomal-Dominant Polycystic Kidney Disease of the PKD1 Type

2015 ◽  
pp. 101-109 ◽  
Author(s):  
Stefan Somlo ◽  
Gregory G. Germino ◽  
Brunhilde Wirth ◽  
Debra Weinstat-Saslow ◽  
Nikki Barton ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Molecular Genetics ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

Age-based ultrasonographic criteria for diagnosis of autosomal dominant polycystic kidney disease in Persian cats

2018 ◽  
Vol 21 (2) ◽  
pp. 156-164 ◽  
Author(s):  
Juliana M Guerra ◽  
Mariana F Freitas ◽  
Alexandre GT Daniel ◽  
Arine Pellegrino ◽  
Natália C Cardoso ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Molecular Genetics ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Serum Biochemistry ◽  
Renal Ultrasound ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney ◽  
Criteria For Diagnosis ◽  
The Cost

Objectives The aim of this study was to establish ultrasound criteria for the diagnosis of autosomal dominant polycystic kidney disease (ADPKD) in Persian cats. Methods Eighty-two Persian cats were assessed using renal ultrasound and genotyped for the C→A transversion in exon 29 of PKD1. The animals were also submitted to hematological characterization, serum biochemistry analyses and urinalysis. Results Age, sex and neutering status did not differ between ADPKD (n = 12) and non-ADPKD (n = 70) cats. After integrated molecular genetics/ultrasonographic analysis, the presence of at least one renal cyst was sufficient to establish a diagnosis of ADPKD in animals up to 15 months of age. Two or more cysts were required for diagnosis in cats aged 16–32 months, and at least three cysts warranted diagnosis of ADPKD in animals aged 33–49 months. Finally, four or more cysts led to diagnosis in cats aged 50–66 months. Although cats with ADPKD exhibited higher serum calcium levels than non-affected cats, hematological, urinalysis and other biochemical parameters did not differ between the two groups. Conclusions and relevance Integrated analyses of imaging and molecular genetics data enabled, for the first time, the establishment of age-based ultrasonographic criteria for the diagnosis of ADPKD in Persian cats. The development of imaging criteria is particularly relevant and useful in the clinical setting given the current limitations to access and the cost of molecular genetics-based diagnostic tests.

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