Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease

2015 ◽  
Vol 350 (4) ◽  
pp. 268-271 ◽  
Author(s):  
Blanka Stiburkova ◽  
Jitka Stekrova ◽  
Makiko Nakamura ◽  
Kimiyoshi Ichida
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
Renal Hypouricemia ◽  
Autosomal Dominant Polycystic Kidney

scholarly journals Genetic Mutations in Autosomal Dominant Polycystic Kidney Disease Type-1

2019 ◽  
Vol 04 (01) ◽  
Author(s):  
Chandra Sanwal ◽  
Karim Nooruddin ◽  
Chirag Patel ◽  
Tiannan Zhang ◽  
Anita Bhagavathula ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Disease Type ◽  
Genetic Mutations ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

Rhombencephalosynapsis associated with autosomal dominant polycystic kidney disease Type 1

2008 ◽  
Vol 2 (6) ◽  
pp. 435-437 ◽  
Author(s):  
Robert Elliott ◽  
David H. Harter
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Chromosomal Abnormalities ◽  
Disease Type ◽  
Clear Pattern ◽  
Polycystic Kidney ◽  
Cerebellar Peduncles ◽  
Autosomal Dominant Polycystic Kidney

Rhombencephalosynapsis (RES) is a rare congenital malformation of the cerebellum characterized by hypogenesis or agenesis of the vermis and fusion of the cerebellar hemispheres with or without fusion of the dentate nuclei and superior cerebellar peduncles. No genetic or chromosomal abnormalities have been identified for RES. Although the occurrence of RES is presumed to be sporadic, no clear pattern of inheritance has been identified. The authors report on a 17-year-old girl with autosomal dominant polycystic kidney disease Type 1 as well as RES.

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