non-syndromal renal hypodysplasia

Renal hypodyspasia associates bilateral non-obstructive renal dysplasia (BNORD) and bilateral non-obstructive renal hypoplasia(BNORH).

Renal hypodysplasia is characterized by a decrease in nephron number, a small overall kidney size, and a maldeveloped renal tissue.

It is a leading cause of chronic renal failure in young children.

Familial clustering and renal hypodysplasia phenotypes observed in transgenic animal models suggest a genetic contribution.

Types

 autosomal dominant nonsyndromic renal hypodysplasia (16998226)

Etiology

 Locus at 1p32-33 (17273976)
 Mutations in UPIIIA coding for uroplakin IIIA (16731295)

• Uroplakin IIIa is encoded by UPIIIA. It is an integral membrane protein present in urothelial plaques.
• The murine UPIIIa knockout is associated with urothelial anomalies and vesicoureteral reflux.
• De novo UPIIIA mutations recently were in 4 of 17 patients with severe bilateral renal adysplasia.

See also

 renal hypodysplasia

• syndromal renal hypodysplasia

References

 Sanna-Cherchi S, Caridi G, Weng PL, Dagnino M, Seri M, Konka A, Somenzi D, Carrea A, Izzi C, Casu D, Allegri L, Schmidt-Ott KM, Barasch J, Scolari F, Ravazzolo R, Ghiggeri GM, Gharavi AG. Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33. Am J Hum Genet. 2007 Mar;80(3):539-49. PMID: 17273976

 Kerecuk L, Sajoo A, McGregor L, Berg J, Haq MR, Sebire NJ, Bingham C, Edghill EL, Ellard S, Taylor J, Rigden S, Flinter FA, Woolf AS. Autosomal dominant inheritance of non-syndromic renal hypoplasia and dysplasia: dramatic variation in clinical severity in a single kindred. Nephrol Dial Transplant. 2007 Jan;22(1):259-63. PMID: 16998226

 Schonfelder EM, Knuppel T, Tasic V, Miljkovic P, Konrad M, Wuhl E, Antignac C, Bakkaloglu A, Schaefer F, Weber S; ESCAPE Trial Group. Mutations in Uroplakin IIIA are a rare cause of renal hypodysplasia in humans. Am J Kidney Dis. 2006 Jun;47(6):1004-12. PMID: 16731295

 Kerecuk L, Sajoo A, McGregor L, Berg J, Haq MR, Sebire NJ, Bingham C, Edghill EL, Ellard S, Taylor J, Rigden S, Flinter FA, Woolf AS. Autosomal dominant inheritance of non-syndromic renal hypoplasia and dysplasia: dramatic variation in clinical severity in a single kindred. Nephrol Dial Transplant. 2007 Jan;22(1):259-63. PMID: 16998226

 Woolf AS. Renal hypoplasia and dysplasia: starting to put the puzzle together. J Am Soc Nephrol. 2006 Oct;17(10):2647-9. PMID: 16959822