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renal malformations

Friday 14 May 2004


I. renal agenesis

- unilateral renal agenesis
- bilateral renal agenesis

II. Anomalies of renal position and form

- renal ectopia
- renal malrotation
- renal cross ectopia
- renal fusion
- renal duplication (duplex kidney)
- supernumerary kidney
- renal hypoplasia
- renomegaly

III. urinary obstruction with hydronephrosis

IV. Anomalies of renal differentiation (anomalies of nephrogenesis)

- renal aplasia
- renal dysplasia

  • obstructive renal dysplasia
  • diffuse cystic renal dysplasia
  • hypoplastic renal dysplasia
  • drug-induced fetal nephropathies

- abnormal tubular differentiation

  • renal tubular dysgenesis

V. renal cystic diseases

A. Renal dysplasia

- sporadic renal dysplasia

  • unilateral sporadic renal dysplasia
  • bilateral sporadic renal dysplasia

- hereditary renal dysplasia

  • non-syndromal hereditary renal dysplasia
  • syndromal hereditary renal dysplasia

B. polycystic kidney diseases (PKDs)

- autosomal recessive polycystic kidney disease (ARPKD)
- autosomal dominant polycystic kidney disease (ADPKD)

B. Medullary cysts

- medullary sponge kidney
- medullary cystic diseases

C. cortical cysts

- glomerulocystic diseases (GCKDs)
- simple cysts
- microcysts associated with malformative syndromes

D. renal cysts associated with hereditary malformative syndromes (without Renal dysplasia)

E. multilocular renal cysts


- Schedl A. Renal abnormalities and their developmental origin. Nat Rev Genet. 2007 Oct;8(10):791-802. PMID: 17878895

- Rodriguez MM. Developmental renal pathology: its past, present, and future. Fetal Pediatr Pathol. 2004 Jul-Aug;23(4):211-29. PMID: 16095033