Congenital solitary kidney in autosomal dominant polycystic kidney disease: Where do known genes end and the unknown begin?
Clin Case Rep
; 11(11): e7917, 2023 Nov.
Article
em En
| MEDLINE
| ID: mdl-38028110
ABSTRACT
We present the case of a 41-year-old man patient diagnosed with solitary left kidney with few cysts. He has a family history of unilateral renal agenesis (URA) but no for autosomal dominant polycystic kidney disease (ADPKD). Genetic testing revealed PKD1 gene intron 11 heterozygous nucleotide variant c.2854-23G>T, but no gene mutation implicated in URA. Just eight cases of ADPKD with one kidney have been recorded globally. PC1 and PC2 disruption, causing primary cilia malformation or absence resulting in relevant in the first embryonic development alteration. Cillia's crucial significance in many diseases will require more research.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article