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Home > D. Systemic pathology > Genetic and developmental anomalies > Malformative associations > dextrocardia-cystic renal dysplasia association

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dextrocardia-cystic renal dysplasia association

IMG/jpg/dextrocardia_multicystic_renal_dysplasia_12_1.jpg IMG/jpg/dextrocardia_multicystic_renal_dysplasia_12_2.jpg IMG/jpg/dextrocardia_multicystic_renal_dysplasia_12_a.jpg Dextrocardia

- 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.

See also

- dextrocardia
- bilateral renal dysplasia

  • BNORD (bilateral non-obstructive renal dysplasia)

References

- 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