dextrocardia-cystic renal dysplasia association
Thursday 5 January 2006
Kramer-Zucker et al. recently showed that cilia of larval zebrafish kidney tubules have a 9+2 configuration and are motile. Disruption of cilia structure or motility resulted in pronephric cyst formations, with left-right asymmetry defects.
nephronophthisis type 2 (NPHP2) is caused by germline mutations in the inversin gene (INVS) (MIM.243305)(12872123)
Mutations in INVS in infantile NPHP that results in both situs inversus and cardiac septal defects in humans, mice and zebrafish. Congenital cardiac malformations might be part of a heterotaxy syndrome that is caused by the same mechanism that leads to situs inversus.
bilateral renal dysplasia
- BNORD (bilateral non-obstructive renal dysplasia)
Hildebrandt F, Otto E. Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease? Nat Rev Genet. 2005 Dec;6(12):928-40. PMID: 16341073