Autor: |
Bucci, Romina, Tunesi, Francesca, De Rosa, Liliana Italia, Carrera, Paola, Mancassola, Giulia, Catania, Martina, Vezzoli, Giuseppe, Sciarrone Alibrandi, Maria Teresa |
Předmět: |
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Zdroj: |
Clinical Case Reports; Nov2023, Vol. 11 Issue 11, p1-3, 3p |
Abstrakt: |
Key Clinical Message: 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. [ABSTRACT FROM AUTHOR] |
Databáze: |
Complementary Index |
Externí odkaz: |
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